Variant report

Variant	rs4882283
Chromosome Location	chr12:38710249-38710250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr12:38710249-38710744	MCF-7	breast:	n/a	chr12:38710366-38710380 chr12:38710402-38710411 chr12:38710365-38710379
2	CTCF	chr12:38710220-38710370	GM12870	blood:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
3	CEBPB	chr12:38710148-38710725	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr12:38710218-38710700	GM12878	blood:	n/a	n/a
5	MEF2A	chr12:38710193-38710736	GM12878	blood:	n/a	n/a
6	RCOR1	chr12:38709982-38710871	GM12878	blood:	n/a	n/a
7	CTCF	chr12:38710135-38710550	K562	blood:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
8	E2F4	chr12:38710220-38710807	MCF10A-Er-Src	breast:	n/a	chr12:38710396-38710408
9	GABPA	chr12:38710217-38710882	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:38709898-38711157	A549	lung:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
11	SP1	chr12:38710199-38710684	H1-hESC	embryonic stem cell:	n/a	chr12:38710389-38710399 chr12:38710389-38710399
12	MAZ	chr12:38710236-38710664	GM12878	blood:	n/a	n/a
13	NFIC	chr12:38710223-38710829	ECC-1	luminal epithelium:	n/a	n/a
14	JUND	chr12:38710225-38710686	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:38710240-38710390	GM12878	blood:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
16	TCF7L2	chr12:38710193-38711049	Hela-S3	cervix:	n/a	n/a
17	MYBL2	chr12:38710220-38710782	HepG2	liver:	n/a	n/a
18	RAD21	chr12:38710209-38710451	K562	blood:	n/a	chr12:38710300-38710319
19	CTCF	chr12:38710120-38710270	HVMF	connective:	n/a	n/a
20	TBP	chr12:38710204-38711087	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr12:38710099-38711036	A549	lung:	n/a	n/a
22	JUND	chr12:38710248-38710795	A549	lung:	n/a	n/a
23	CTCF	chr12:38710161-38710437	HUVEC	blood vessel:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
24	CTCF	chr12:38710155-38710457	Pancreas_OC	pancreas:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
25	SMC3	chr12:38710077-38710627	HepG2	liver:	n/a	chr12:38710304-38710318
26	CTCF	chr12:38710120-38710270	HFF	foreskin:	n/a	n/a
27	CTCF	chr12:38710240-38710390	HEEpiC	esophagus:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
28	MYC	chr12:38710242-38710720	NB4	blood:	n/a	n/a
29	CTCF	chr12:38710240-38710390	HPAF	blood vessel:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
30	POLR2A	chr12:38710183-38710995	SK-N-MC	brain:	n/a	n/a
31	FOSL2	chr12:38710116-38710791	A549	lung:	n/a	n/a
32	CTCF	chr12:38710240-38710390	Hela-S3	cervix:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
33	CTCF	chr12:38710199-38710445	HepG2	liver:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
34	CTCF	chr12:38710240-38710390	WERI-Rb-1	eye:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
35	CTCF	chr12:38710208-38710425	NHEK	skin:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
36	ATF3	chr12:38710223-38710780	A549	lung:	n/a	n/a
37	CEBPB	chr12:38710176-38710750	A549	lung:	n/a	n/a
38	CTCF	chr12:38710240-38710390	HL-60	blood:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
39	CTCF	chr12:38710003-38710411	HepG2	liver:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
40	CTCF	chr12:38710206-38710421	MCF-7	breast:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
41	ZNF384	chr12:38710094-38710664	K562	blood:	n/a	n/a
42	GABPA	chr12:38710176-38710959	Hela-S3	cervix:	n/a	n/a
43	PAX5	chr12:38710240-38710686	GM12878	blood:	n/a	n/a
44	CTCF	chr12:38710240-38710390	GM06990	blood:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
45	CREB1	chr12:38710233-38710718	K562	blood:	n/a	n/a
46	CTCF	chr12:38710191-38710423	GM13976	blood:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
47	CTCF	chr12:38710240-38710390	AG09309	skin:	n/a	chr12:38710297-38710318 chr12:38710303-38710319 chr12:38710302-38710320
48	FOXA2	chr12:38710243-38710709	A549	lung:	n/a	n/a
49	CBX3	chr12:38710189-38710797	HCT-116	colon:	n/a	n/a
50	ELF1	chr12:38710119-38710724	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ALG10B	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1046071	0.90[ASN][1000 genomes]
rs10748433	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10748446	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785586	0.81[EUR][1000 genomes]
rs10785590	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10785621	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880802	0.82[EUR][1000 genomes]
rs10880882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880931	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183090	0.82[EUR][1000 genomes]
rs11183150	0.81[EUR][1000 genomes]
rs11183215	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183276	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183390	0.81[ASN][1000 genomes]
rs12422351	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12424003	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12812406	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1319664	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1601745	0.82[EUR][1000 genomes]
rs1813392	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1825802	0.82[EUR][1000 genomes]
rs1825806	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1843887	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1843910	0.83[EUR][1000 genomes]
rs1843911	0.82[EUR][1000 genomes]
rs1973292	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973293	0.93[EUR][1000 genomes]
rs2013804	0.81[EUR][1000 genomes]
rs2078343	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2387843	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2387847	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2387855	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2387924	0.82[EUR][1000 genomes]
rs35518352	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3956264	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4402370	0.83[EUR][1000 genomes]
rs4550281	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4882279	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4882284	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4882350	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4882354	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882355	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882358	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4882359	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582539	0.80[EUR][1000 genomes]
rs6582564	0.80[EUR][1000 genomes]
rs6582599	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582607	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6582618	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582630	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582631	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582668	0.86[ASN][1000 genomes]
rs7132539	0.89[ASN][1000 genomes]
rs7138671	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296576	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300109	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301762	0.93[ASN][1000 genomes]
rs7304568	0.80[EUR][1000 genomes]
rs7306030	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7485963	0.88[ASN][1000 genomes]
rs7486919	0.90[ASN][1000 genomes]
rs7952795	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955128	0.96[EUR][1000 genomes]
rs7960643	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7965877	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977200	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977738	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050718	chr12:37857751-38757302	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv898972	chr12:37857899-38719455	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv898973	chr12:37913469-38733094	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv898974	chr12:37913469-38881918	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv898985	chr12:38015951-38856607	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv898986	chr12:38015951-38922227	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2422349	chr12:38103874-38761647	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv898992	chr12:38106133-38959053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv1039580	chr12:38169669-38844008	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1047388	chr12:38169669-38949760	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1047550	chr12:38207030-38908242	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1035850	chr12:38207030-38912512	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv469355	chr12:38242029-38851642	Weak transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv558573	chr12:38242029-38851642	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1036471	chr12:38279331-38843441	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv469357	chr12:38347638-38865066	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv558580	chr12:38347638-38865066	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv558581	chr12:38373092-38865066	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv1037285	chr12:38377445-38832352	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv1047616	chr12:38377445-38843441	Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv1048454	chr12:38377445-38868369	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv1049142	chr12:38377445-38872038	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	nsv1053589	chr12:38377445-38875511	ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	nsv1041670	chr12:38381206-38860567	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
28	esv2751097	chr12:38385512-38843441	Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv899004	chr12:38424982-38730455	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
30	nsv1046762	chr12:38424982-38807781	Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
31	nsv826332	chr12:38442547-38958438	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
32	nsv1049289	chr12:38453409-38861645	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
33	nsv541472	chr12:38453409-38861645	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	nsv1054889	chr12:38453609-38861506	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
35	nsv541473	chr12:38453609-38861506	ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
36	nsv1044107	chr12:38453609-38873485	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
37	nsv541474	chr12:38453609-38873485	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
38	nsv1046439	chr12:38453609-38956518	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
39	nsv541475	chr12:38453609-38956518	Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
40	nsv1039179	chr12:38453609-39029275	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
41	nsv541476	chr12:38453609-39029275	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
42	nsv1037779	chr12:38480764-38872104	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
43	nsv899006	chr12:38535661-38851642	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
44	nsv899007	chr12:38571966-38801746	Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
45	nsv1043698	chr12:38640895-38872104	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
46	nsv1045416	chr12:38640895-38887087	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
47	nsv541478	chr12:38640895-38887087	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
48	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
49	nsv976602	chr12:38676673-38718735	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
50	nsv899008	chr12:38692547-38792348	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4882283	ALG10B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38709600-38710800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:38709800-38710400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:38709800-38710600	Active TSS	Primary hematopoietic stem cells	blood
4	chr12:38709800-38711000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:38709800-38711000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:38709800-38711000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:38709800-38711000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:38709800-38711000	Active TSS	Fetal Brain Male	brain
9	chr12:38709800-38711000	Active TSS	Thymus	Thymus
10	chr12:38709800-38711000	Active TSS	Osteobl	bone
11	chr12:38709800-38711200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:38709800-38711200	Active TSS	Brain Angular Gyrus	brain
13	chr12:38709800-38711200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr12:38709800-38711200	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:38709800-38711200	Active TSS	NHLF	lung
16	chr12:38709800-38711400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:38709800-38711400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:38709800-38711400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:38709800-38711400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:38709800-38711400	Active TSS	Right Atrium	heart
21	chr12:38709800-38711400	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr12:38709800-38711600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:38709800-38711600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:38709800-38711600	Active TSS	Brain Germinal Matrix	brain
25	chr12:38709800-38711600	Active TSS	A549	lung
26	chr12:38709800-38711600	Active TSS	NHDF-Ad	bronchial
27	chr12:38710000-38710400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:38710000-38710400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:38710000-38710400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:38710000-38710400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:38710000-38710600	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr12:38710000-38710600	Active TSS	Primary T cells fromperipheralblood	blood
33	chr12:38710000-38710600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:38710000-38710600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:38710000-38710600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:38710000-38710800	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr12:38710000-38710800	Active TSS	Colonic Mucosa	Colon
38	chr12:38710000-38711000	Active TSS	Primary B cells from peripheral blood	blood
39	chr12:38710000-38711000	Active TSS	Primary T cells from cord blood	blood
40	chr12:38710000-38711000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:38710000-38711000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:38710000-38711000	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:38710000-38711000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:38710000-38711000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:38710000-38711000	Active TSS	Brain Hippocampus Middle	brain
46	chr12:38710000-38711000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr12:38710000-38711000	Active TSS	Fetal Muscle Leg	muscle
48	chr12:38710000-38711200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:38710000-38711200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:38710000-38711200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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