Variant report

Variant	rs4483670
Chromosome Location	chr12:8474182-8474183
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:8474006-8474206	K562	blood:	n/a	n/a
2	CTCF	chr12:8473930-8474336	K562	blood:	n/a	n/a
3	CTCF	chr12:8473959-8474211	K562	blood:	n/a	n/a
4	SPI1	chr12:8474177-8474412	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8474132-8474182	HEK293	kidney:	embryo
2	chr12:8474132-8474182	Hepatocyte	liver:	n/a
3	chr12:8474132-8474182	AG04449	skin:	fetal
4	chr12:8474132-8474182	NB4	blood:	n/a
5	chr12:8474132-8474182	HNPCEpiC	eye:	n/a
6	chr12:8474132-8474182	SK-N-MC	brain:	n/a
7	chr12:8474132-8474182	AG04450	lung:	fetal
8	chr12:8474132-8474182	GM06990	blood:	n/a
9	chr12:8474132-8474182	T-47D	breast:	n/a
10	chr12:8474132-8474182	GM19239	blood:	n/a
11	chr12:8474132-8474182	HCF	heart:	n/a
12	chr12:8474132-8474182	PrEC	prostate:	n/a
13	chr12:8474132-8474182	K562	blood:	n/a
14	chr12:8474132-8474182	CMK	blood:	n/a
15	chr12:8474132-8474182	BE2_C	brain:	n/a
16	chr12:8474132-8474182	H1-hESC	embryonic stem cell:	embryo
17	chr12:8474132-8474182	ECC-1	luminal epithelium:	n/a
18	chr12:8474132-8474182	AG09309	skin:	n/a
19	chr12:8474132-8474182	HCT-116	colon:	n/a
20	chr12:8474132-8474182	NT2-D1	testis:	n/a
21	chr12:8474132-8474182	Jurkat	blood:	n/a
22	chr12:8474132-8474182	NHBE	bronchial:	n/a
23	chr12:8474132-8474182	GM12892	blood:	n/a
24	chr12:8474132-8474182	AG09319	gingival:	n/a
25	chr12:8474132-8474182	Caco-2	colon:	n/a
26	chr12:8474132-8474182	HRPEpiC	eye:	n/a
27	chr12:8474132-8474182	HEEpiC	esophagus:	n/a
28	chr12:8474132-8474182	PANC-1	pancreas:	n/a
29	chr12:8474132-8474182	U87	brain:	n/a
30	chr12:8474132-8474182	MCF10A-Er-Src	breast:	n/a
31	chr12:8474132-8474182	ovcar-3	ovarian:	n/a
32	chr12:8474132-8474182	HRCEpiC	kidney:	n/a
33	chr12:8474132-8474182	SK-N-SH	brain:	n/a
34	chr12:8474132-8474182	IMR90	lung:	fetal
35	chr12:8474132-8474182	SAEC	small airway:	n/a
36	chr12:8474132-8474182	MCF-7	breast:	n/a
37	chr12:8474132-8474182	HAEpiC	amniotic membrane:	n/a
38	chr12:8474132-8474182	PFSK-1	brain:	n/a
39	chr12:8474132-8474182	Hela-S3	cervix:	n/a
40	chr12:8474132-8474182	HL-60	blood:	n/a
41	chr12:8474132-8474182	GM12891	blood:	n/a
42	chr12:8474132-8474182	HRE	kidney:	n/a
43	chr12:8474132-8474182	HCM	heart:	n/a
44	chr12:8474132-8474182	SK-N-SH_RA	brain:	n/a
45	chr12:8474132-8474182	HepG2	liver:	n/a
46	chr12:8474132-8474182	HUVEC	blood vessel:	n/a
47	chr12:8474132-8474182	ProgFib	skin:	n/a
48	chr12:8474132-8474182	HIPEpiC	eye:	n/a
49	chr12:8474132-8474182	A549	lung:	n/a
50	chr12:8474132-8474182	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
ENSG00000256101	TF binding region
ENSG00000221307	TF binding region
ENSG00000256101	CpG island
ENSG00000221307	CpG island

Extended variants
information (count: 105 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10734686	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10770450	0.84[ASN][1000 genomes]
rs10770457	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10770463	0.88[ASN][1000 genomes]
rs10770464	0.87[ASN][1000 genomes]
rs10770466	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10770468	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10770469	0.87[ASN][1000 genomes]
rs10841176	0.87[ASN][1000 genomes]
rs10841178	0.91[ASN][1000 genomes]
rs10841200	0.93[ASN][1000 genomes]
rs10841201	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10841203	0.81[ASN][1000 genomes]
rs10841204	0.93[ASN][1000 genomes]
rs10841206	0.81[ASN][1000 genomes]
rs10841207	0.81[ASN][1000 genomes]
rs10841240	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10841244	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11044501	0.97[ASN][1000 genomes]
rs11044624	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11044666	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11610374	0.90[ASN][1000 genomes]
rs12423077	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427358	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2465463	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2465993	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2714116	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2714118	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28550988	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34680023	0.88[ASN][1000 genomes]
rs35834165	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4018555	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4018557	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4463909	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4882930	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4882931	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4882932	0.93[ASN][1000 genomes]
rs4882934	0.87[ASN][1000 genomes]
rs4883124	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4883130	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57757122	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60457577	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73043172	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7956968	0.98[ASN][1000 genomes]
rs7963669	0.85[ASN][1000 genomes]
rs7967197	0.94[ASN][1000 genomes]
rs7972333	0.95[ASN][1000 genomes]
rs7974349	0.86[ASN][1000 genomes]
rs7977760	0.83[ASN][1000 genomes]
rs9668832	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9738201	0.91[ASN][1000 genomes]
rs9738625	0.91[ASN][1000 genomes]
rs9739125	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	esv1796538	chr12:8276546-8508693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv427902	chr12:8276546-8623987	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	esv2757488	chr12:8280755-8580804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv1799331	chr12:8308073-8568222	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	esv1808210	chr12:8309095-8530951	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv1040962	chr12:8317823-8584660	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats 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
17	nsv1036525	chr12:8317823-8603777	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv1049334	chr12:8320887-8529380	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv557332	chr12:8321048-8598823	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv557333	chr12:8321048-8599397	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
21	esv16224	chr12:8323225-8589822	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1036867	chr12:8329500-8581129	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	esv1804506	chr12:8333011-8561680	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv1050342	chr12:8334885-8581129	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv1048534	chr12:8334885-8584660	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	esv1816305	chr12:8343961-8584660	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv1040012	chr12:8357507-8584660	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	esv2760766	chr12:8357507-8584672	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	nsv898733	chr12:8357507-8600363	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
30	esv1848469	chr12:8361724-8589775	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv1050188	chr12:8362038-8581129	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	nsv1050955	chr12:8362038-8584660	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats 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
33	nsv898734	chr12:8367694-8568358	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
34	nsv1043700	chr12:8370702-8584660	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer 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
35	nsv1054161	chr12:8371320-8584660	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
36	nsv973015	chr12:8371568-8602961	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
37	nsv1050081	chr12:8378239-8584660	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
38	nsv1039971	chr12:8393816-8584660	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
39	nsv1052610	chr12:8401834-8584660	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
40	nsv1046231	chr12:8401834-8603777	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
41	nsv1047103	chr12:8412050-8562623	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
42	nsv1043254	chr12:8412050-8581129	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
43	nsv1054850	chr12:8412050-8584660	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
44	nsv1042364	chr12:8417967-8605829	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
45	nsv1044464	chr12:8428423-8581129	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
46	nsv1046598	chr12:8428423-8584660	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
47	esv2477755	chr12:8432560-8512033	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
48	nsv1041859	chr12:8436238-8584660	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
49	nsv1037314	chr12:8449100-8584660	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
50	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4483670	LINC00937	cis	Artery Tibial	GTEx
rs4483670	LINC00937	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8471400-8475800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:8471600-8474400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:8472800-8474200	Enhancers	Fetal Muscle Leg	muscle
4	chr12:8473000-8474400	Enhancers	K562	blood
5	chr12:8473200-8475000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:8473400-8474200	Enhancers	Thymus	Thymus
7	chr12:8473600-8474200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:8473800-8474200	Enhancers	Dnd41	blood
9	chr12:8473800-8474600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:8473800-8474600	Enhancers	Fetal Thymus	thymus
11	chr12:8473800-8475800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:8473800-8475800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:8473800-8475800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:8473800-8476000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:8473800-8476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:8474000-8475000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:8474000-8475800	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links