Variant report

Variant	rs1620111
Chromosome Location	chr1:228402047-228402048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:228401920-228402048	K562	blood:	n/a	n/a
2	MAX	chr1:228399607-228402252	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:228400625-228402064	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:228402036-228402126	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr1:228400149-228402453	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:228400679-228402103	ECC-1	luminal epithelium:	n/a	n/a
7	MXI1	chr1:228400727-228402575	IMR90	lung:	n/a	n/a
8	MAZ	chr1:228400505-228402251	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228402036-228402086	PrEC	prostate:	n/a
2	chr1:228402036-228402086	NH-A	brain:	n/a
3	chr1:228402036-228402086	ovcar-3	ovarian:	n/a
4	chr1:228402036-228402086	AG09309	skin:	n/a
5	chr1:228402036-228402086	SK-N-MC	brain:	n/a
6	chr1:228402036-228402086	PFSK-1	brain:	n/a
7	chr1:228402036-228402086	HNPCEpiC	eye:	n/a
8	chr1:228402036-228402086	NHBE	bronchial:	n/a
9	chr1:228402036-228402086	HCT-116	colon:	n/a
10	chr1:228402036-228402086	GM19239	blood:	n/a
11	chr1:228402036-228402086	HRE	kidney:	n/a
12	chr1:228402036-228402086	NB4	blood:	n/a
13	chr1:228402036-228402086	NHDF-neo	bronchial:	n/a
14	chr1:228402036-228402086	HEEpiC	esophagus:	n/a
15	chr1:228402036-228402086	SKMC	muscle:	n/a
16	chr1:228402036-228402086	Caco-2	colon:	n/a
17	chr1:228402036-228402086	HCM	heart:	n/a
18	chr1:228402036-228402086	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:228402036-228402086	HepG2	liver:	n/a
20	chr1:228402036-228402086	IMR90	lung:	fetal
21	chr1:228402036-228402086	MCF10A-Er-Src	breast:	n/a
22	chr1:228402036-228402086	MCF-7	breast:	n/a
23	chr1:228402036-228402086	HL-60	blood:	n/a
24	chr1:228402036-228402086	AG04450	lung:	fetal
25	chr1:228402036-228402086	HCF	heart:	n/a
26	chr1:228402036-228402086	HMEC	breast:	n/a
27	chr1:228402036-228402086	HIPEpiC	eye:	n/a
28	chr1:228402036-228402086	ProgFib	skin:	n/a
29	chr1:228402036-228402086	SK-N-SH_RA	brain:	n/a
30	chr1:228402036-228402086	GM12878	blood:	n/a
31	chr1:228402036-228402086	AG04449	skin:	fetal
32	chr1:228402036-228402086	AG09319	gingival:	n/a
33	chr1:228402036-228402086	SK-N-SH	brain:	n/a
34	chr1:228402036-228402086	BJ	skin:	n/a
35	chr1:228402036-228402086	SAEC	small airway:	n/a
36	chr1:228402036-228402086	HCPEpiC	choroid plexus:	n/a
37	chr1:228402036-228402086	AoSMC	blood vessel:	n/a
38	chr1:228402036-228402086	ECC-1	luminal epithelium:	n/a
39	chr1:228402036-228402086	HRPEpiC	eye:	n/a
40	chr1:228402036-228402086	LNCaP	prostate:	n/a
41	chr1:228402036-228402086	HRCEpiC	kidney:	n/a
42	chr1:228402036-228402086	A549	lung:	n/a
43	chr1:228402036-228402086	NT2-D1	testis:	n/a
44	chr1:228402036-228402086	RPTEC	kidney:	n/a
45	chr1:228402036-228402086	K562	blood:	n/a
46	chr1:228402036-228402086	GM12891	blood:	n/a
47	chr1:228402036-228402086	Hela-S3	cervix:	n/a
48	chr1:228402036-228402086	H1-hESC	embryonic stem cell:	embryo
49	chr1:228402036-228402086	U87	brain:	n/a
50	chr1:228402036-228402086	HAEpiC	amniotic membrane:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
2	chr1:228399534..228402324-chr1:228461653..228463776,2	MCF-7	breast:
3	chr1:228352180..228354320-chr1:228400730..228402843,3	MCF-7	breast:
4	chr1:228270338..228271968-chr1:228400103..228402238,2	MCF-7	breast:
5	chr1:228401876..228404808-chr1:228460949..228463356,3	K562	blood:
6	chr1:228400118..228403034-chr1:228591844..228593875,2	MCF-7	breast:
7	chr1:228400987..228403639-chr1:228644070..228647036,3	K562	blood:
8	chr1:228401076..228403639-chr1:228645192..228647036,2	K562	blood:
9	chr1:228360767..228363057-chr1:228399837..228402220,2	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf145	TF binding region
OBSCN	TF binding region
C1orf145	CpG island
OBSCN	CpG island
ENSG00000181218	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000269890	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10158357	0.84[CEU][hapmap]
rs1059778	1.00[CEU][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs10753445	1.00[CEU][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs10799468	0.84[EUR][1000 genomes]
rs10799469	0.81[EUR][1000 genomes]
rs10799471	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916265	0.88[CEU][hapmap]
rs10916268	0.92[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs10916271	0.87[EUR][1000 genomes]
rs11580411	0.83[EUR][1000 genomes]
rs11584385	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11799681	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024649	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084338	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs12118872	0.91[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs12130630	0.84[CEU][hapmap]
rs12134624	0.88[TSI][hapmap]
rs12564763	0.88[CEU][hapmap];0.95[TSI][hapmap]
rs12726781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745416	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1331303	0.94[EUR][1000 genomes]
rs1411910	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1411911	0.83[EUR][1000 genomes]
rs1411913	0.83[EUR][1000 genomes]
rs1557026	0.84[CEU][hapmap]
rs1629290	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1629294	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1745423	0.82[TSI][hapmap]
rs1757129	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1757132	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1757133	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1757138	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1757139	1.00[CEU][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs1757140	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1757141	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1757142	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1757144	0.94[EUR][1000 genomes]
rs1757145	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1757147	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1757148	0.95[EUR][1000 genomes]
rs1757149	1.00[CEU][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1757150	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1757151	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1757152	1.00[CEU][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs1757153	0.87[ASN][1000 genomes]
rs1757155	0.94[EUR][1000 genomes]
rs1757156	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs1757158	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17640616	0.84[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs1771459	1.00[CEU][hapmap];0.82[GIH][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1771460	1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs1771461	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1771462	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1771467	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1771468	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1771469	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1771470	0.94[EUR][1000 genomes]
rs1771471	0.94[EUR][1000 genomes]
rs1771472	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1771474	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs1771476	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1771477	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1771478	0.95[EUR][1000 genomes]
rs1771479	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1771482	1.00[CEU][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs1771483	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1771484	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1771485	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1771487	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066237	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs2185544	0.88[EUR][1000 genomes]
rs2313601	0.88[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2313602	1.00[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs2776845	0.95[EUR][1000 genomes]
rs2776853	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2776855	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.97[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2776856	1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs2792984	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2872538	1.00[CEU][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2989563	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3121188	0.86[EUR][1000 genomes]
rs3121190	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3121191	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121192	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3795777	0.94[EUR][1000 genomes]
rs3795782	0.92[CEU][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs4653536	0.85[EUR][1000 genomes]
rs4653543	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4653545	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4653915	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4653917	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs4653921	0.84[CEU][hapmap]
rs4653931	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653933	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4653934	0.83[EUR][1000 genomes]
rs4653935	0.81[JPT][hapmap]
rs4653936	0.82[JPT][hapmap]
rs489926	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs491293	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs493945	0.96[CEU][hapmap];0.90[TSI][hapmap]
rs512406	0.91[EUR][1000 genomes]
rs545313	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs546967	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55658545	0.84[EUR][1000 genomes]
rs55971985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56112646	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56168609	0.81[EUR][1000 genomes]
rs566640	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61825279	0.80[EUR][1000 genomes]
rs61827540	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6426492	0.81[CEU][hapmap]
rs6657968	0.84[CEU][hapmap]
rs6661539	0.83[EUR][1000 genomes]
rs6673893	0.84[CEU][hapmap]
rs6682260	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs72757827	0.80[EUR][1000 genomes]
rs72757829	0.86[EUR][1000 genomes]
rs7512209	1.00[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs7525075	0.92[EUR][1000 genomes]
rs7532141	0.82[EUR][1000 genomes]
rs7532924	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7537636	1.00[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs7539762	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs849749	0.81[TSI][hapmap]
rs947087	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	esv3419574	chr1:228397729-228402327	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	esv3397989	chr1:228398279-228402677	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	esv3358379	chr1:228399204-228403102	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1620111	OBSCN	cis	Skin Sun Exposed Lower leg	GTEx
rs1620111	OBSCN	cis	Esophagus Mucosa	GTEx
rs1620111	WDR26	cis	cerebellum	SCAN
rs1620111	MRPL55	cis	cerebellum	SCAN
rs1620111	MRPL55	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr1:228400000-228402400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:228400000-228402600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:228400200-228402200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:228400200-228402600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:228400400-228402200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:228400400-228402400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:228400400-228403200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:228400600-228402200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:228400600-228402200	Active TSS	Fetal Intestine Large	intestine
11	chr1:228400600-228402200	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:228400600-228402200	Active TSS	Hela-S3	cervix
13	chr1:228400600-228402400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:228400600-228404200	Active TSS	Brain Anterior Caudate	brain
15	chr1:228400800-228402200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:228401000-228402200	Active TSS	Primary hematopoietic stem cells	blood
17	chr1:228401200-228402200	Active TSS	A549	lung
18	chr1:228401400-228402200	Enhancers	Primary B cells from cord blood	blood
19	chr1:228401400-228402200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:228401400-228402400	Active TSS	Brain Germinal Matrix	brain
21	chr1:228401400-228402600	Weak transcription	Primary T cells from cord blood	blood
22	chr1:228401400-228403800	Genic enhancers	Left Ventricle	heart
23	chr1:228401400-228404200	Enhancers	Fetal Brain Male	brain
24	chr1:228401400-228405200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:228401400-228412200	Weak transcription	HSMMtube	muscle
26	chr1:228401400-228412600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:228401600-228402200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:228401600-228402200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:228401600-228402200	Flanking Active TSS	HMEC	breast
30	chr1:228401600-228402400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:228401600-228402400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:228401600-228402600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:228401600-228412200	Weak transcription	Right Atrium	heart
34	chr1:228401800-228402200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:228401800-228402200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:228401800-228402200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:228401800-228402200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:228401800-228402200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr1:228401800-228402200	Flanking Active TSS	Esophagus	oesophagus
40	chr1:228401800-228402200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr1:228401800-228402200	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr1:228401800-228402200	Flanking Active TSS	Lung	lung
43	chr1:228401800-228402200	Flanking Active TSS	Thymus	Thymus
44	chr1:228401800-228402200	Flanking Active TSS	Spleen	Spleen
45	chr1:228401800-228402400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:228401800-228402400	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr1:228401800-228402600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:228401800-228402600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:228401800-228402600	Enhancers	Pancreas	Pancrea
50	chr1:228401800-228402800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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