Variant report

Variant	rs3812426
Chromosome Location	chr8:50822676-50822677
allele	A/G
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	REST	chr8:50822049-50824821	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
2	REST	chr8:50822140-50822837	PFSK-1	brain:	n/a	chr8:50822601-50822614
3	CTCF	chr8:50822620-50822770	NHDF-neo	bronchial:	n/a	n/a
4	REST	chr8:50822423-50822755	H1-hESC	embryonic stem cell:	n/a	chr8:50822601-50822614
5	FOXA1	chr8:50822271-50822708	HepG2	liver:	n/a	n/a
6	E2F6	chr8:50821848-50822887	H1-hESC	embryonic stem cell:	n/a	chr8:50821961-50821978
7	FOXP2	chr8:50822520-50822755	SK-N-MC	brain:	n/a	n/a
8	REST	chr8:50822555-50822788	PFSK-1	brain:	n/a	chr8:50822601-50822614
9	CTCF	chr8:50822660-50822810	HBMEC	blood vessel:	n/a	n/a
10	RAD21	chr8:50821893-50822891	H1-hESC	embryonic stem cell:	n/a	chr8:50822377-50822391 chr8:50822785-50822799
11	MAX	chr8:50822132-50823671	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr8:50822517-50822713	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr8:50821983-50822676	SK-N-SH	brain:	n/a	chr8:50822592-50822605
14	REST	chr8:50822051-50824817	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
15	REST	chr8:50822077-50824754	H1-neurons	neurons:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
16	CTCF	chr8:50822666-50822741	Gliobla	brain:	n/a	n/a
17	CTCF	chr8:50822620-50822770	AG09319	gingival:	n/a	n/a
18	RAD21	chr8:50822047-50822919	H1-hESC	embryonic stem cell:	n/a	chr8:50822377-50822391 chr8:50822785-50822799
19	BACH1	chr8:50822115-50822758	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:50822670-50822845	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:50822110-50823618	SK-N-MC	brain:	n/a	n/a
22	CHD1	chr8:50822371-50822769	H1-hESC	embryonic stem cell:	n/a	chr8:50822568-50822578
23	RAD21	chr8:50822067-50822815	H1-hESC	embryonic stem cell:	n/a	chr8:50822377-50822391 chr8:50822785-50822799
24	MAX	chr8:50821895-50822831	H1-hESC	embryonic stem cell:	n/a	chr8:50822017-50822028 chr8:50822016-50822026 chr8:50822020-50822027 chr8:50822017-50822028 chr8:50822018-50822027 chr8:50822016-50822029 chr8:50822017-50822028
25	REST	chr8:50822518-50822764	H1-hESC	embryonic stem cell:	n/a	chr8:50822601-50822614
26	FOXA1	chr8:50822208-50822752	HepG2	liver:	n/a	n/a
27	MAX	chr8:50821878-50822755	H1-hESC	embryonic stem cell:	n/a	chr8:50822017-50822028 chr8:50822016-50822026 chr8:50822020-50822027 chr8:50822017-50822028 chr8:50822018-50822027 chr8:50822016-50822029 chr8:50822017-50822028
28	CTCF	chr8:50822640-50822790	HCPEpiC	choroid plexus:	n/a	n/a
29	POLR2A	chr8:50822217-50822815	H1-neurons	neurons:	n/a	n/a
30	CTCF	chr8:50822560-50822710	HPF	lung:	n/a	chr8:50822592-50822605
31	HDAC2	chr8:50822094-50822695	H1-hESC	embryonic stem cell:	n/a	chr8:50822466-50822475
32	CTCF	chr8:50822660-50822810	HMEC	breast:	n/a	n/a
33	SIN3A	chr8:50822049-50823683	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr8:50822131-50822797	U87	brain:	n/a	chr8:50822601-50822614

Variant related genes	Relation type
SNTG1	TF binding region
ENSG00000271148	TF binding region

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10096242	0.91[ASN][1000 genomes]
rs10112215	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs10112818	0.88[JPT][hapmap];0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1021202	0.85[CEU][hapmap]
rs10216383	0.83[AFR][1000 genomes]
rs1023979	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs10504093	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10957679	0.83[ASN][1000 genomes]
rs10957681	0.91[ASN][1000 genomes]
rs10957682	0.83[ASN][1000 genomes]
rs10957739	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs10957741	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs1157932	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11773979	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777957	0.88[JPT][hapmap]
rs11781675	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11782772	0.91[ASN][1000 genomes]
rs11783503	0.87[JPT][hapmap]
rs11783631	0.87[JPT][hapmap]
rs11787050	0.83[ASN][1000 genomes]
rs12541061	0.85[CEU][hapmap]
rs12541363	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs12545695	0.83[ASN][1000 genomes]
rs12549981	0.83[ASN][1000 genomes]
rs12679386	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13252824	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13264385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13273334	0.82[JPT][hapmap]
rs1344326	0.87[JPT][hapmap]
rs1352114	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs1385980	0.82[ASN][1000 genomes]
rs1484805	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs1484807	0.85[CEU][hapmap]
rs1484813	0.85[CEU][hapmap]
rs1486258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1486263	0.83[ASN][1000 genomes]
rs1552378	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552379	0.83[ASN][1000 genomes]
rs1552380	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs1586364	0.83[ASN][1000 genomes]
rs167631	0.87[CEU][hapmap]
rs16913687	0.83[ASN][1000 genomes]
rs16914039	0.83[ASN][1000 genomes]
rs170331	0.83[ASN][1000 genomes]
rs182646	0.81[EUR][1000 genomes]
rs1843607	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs186455	0.87[CEU][hapmap]
rs2015043	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs2086888	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2129161	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs2129169	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs2170953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2200494	0.81[EUR][1000 genomes]
rs2220157	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs223081	0.82[EUR][1000 genomes]
rs2247368	0.87[ASN][1000 genomes]
rs2385554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385696	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2385697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2385698	0.87[CEU][hapmap]
rs2449957	0.82[EUR][1000 genomes]
rs2449958	0.81[EUR][1000 genomes]
rs2449960	0.87[ASN][1000 genomes]
rs2449961	1.00[ASN][1000 genomes]
rs2449963	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2450286	0.83[ASN][1000 genomes]
rs2450287	0.84[ASN][1000 genomes]
rs2450288	0.81[EUR][1000 genomes]
rs2450290	0.84[ASN][1000 genomes]
rs2450291	0.81[EUR][1000 genomes]
rs2628417	0.81[EUR][1000 genomes]
rs28869911	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs318850	0.87[ASN][1000 genomes]
rs318851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs318853	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs318854	0.86[CHB][hapmap]
rs318858	0.83[ASN][1000 genomes]
rs318859	0.83[ASN][1000 genomes]
rs318861	0.83[ASN][1000 genomes]
rs318862	0.81[EUR][1000 genomes]
rs318864	0.81[EUR][1000 genomes]
rs318867	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs318872	0.82[EUR][1000 genomes]
rs318873	0.82[EUR][1000 genomes]
rs318874	0.83[ASN][1000 genomes]
rs318875	0.82[EUR][1000 genomes]
rs318913	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs318915	0.85[CEU][hapmap]
rs318916	0.87[CEU][hapmap]
rs318918	0.85[CEU][hapmap]
rs318920	0.87[CEU][hapmap]
rs318923	0.87[CEU][hapmap]
rs365318	0.81[EUR][1000 genomes]
rs366526	0.81[EUR][1000 genomes]
rs379601	0.96[ASN][1000 genomes]
rs3812424	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs384406	0.81[EUR][1000 genomes]
rs391798	0.81[EUR][1000 genomes]
rs404309	0.96[ASN][1000 genomes]
rs406337	0.81[EUR][1000 genomes]
rs412929	0.95[ASN][1000 genomes]
rs415276	0.82[EUR][1000 genomes]
rs4242456	0.88[JPT][hapmap]
rs4460388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs451034	0.96[ASN][1000 genomes]
rs453906	0.91[ASN][1000 genomes]
rs4873118	0.83[ASN][1000 genomes]
rs4873119	0.83[ASN][1000 genomes]
rs4873120	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4873123	0.88[JPT][hapmap]
rs4873367	0.81[JPT][hapmap]
rs4873392	0.83[ASN][1000 genomes]
rs55780592	0.89[ASN][1000 genomes]
rs55879210	0.83[ASN][1000 genomes]
rs6472838	0.89[ASN][1000 genomes]
rs6472839	0.91[ASN][1000 genomes]
rs6984738	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6988440	0.85[ASN][1000 genomes]
rs6991925	0.89[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7002291	0.91[ASN][1000 genomes]
rs7002909	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003221	0.91[ASN][1000 genomes]
rs7004973	0.83[ASN][1000 genomes]
rs7008449	0.83[ASN][1000 genomes]
rs7010915	0.87[JPT][hapmap]
rs7014520	0.87[JPT][hapmap]
rs73676077	0.87[ASN][1000 genomes]
rs7828900	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs7833019	0.87[CEU][hapmap]
rs7833377	0.82[JPT][hapmap]
rs923058	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs923060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931293	0.88[JPT][hapmap]
rs931294	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs9643685	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9643689	0.81[JPT][hapmap]
rs9643692	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs967107	0.87[ASN][1000 genomes]
rs967109	0.81[EUR][1000 genomes]
rs967110	0.81[EUR][1000 genomes]
rs971926	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs974740	0.83[ASN][1000 genomes]
rs974742	0.83[ASN][1000 genomes]
rs993553	0.88[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50821000-50824400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:50821400-50824600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:50821400-50825000	Active TSS	Fetal Brain Female	brain
4	chr8:50821400-50826800	Active TSS	Fetal Brain Male	brain
5	chr8:50821600-50823000	Active TSS	Brain Angular Gyrus	brain
6	chr8:50821600-50824400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:50821600-50824600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:50821600-50824600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:50821600-50829000	Active TSS	Brain Germinal Matrix	brain
10	chr8:50821800-50823000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:50821800-50823200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:50821800-50823200	Active TSS	Brain Anterior Caudate	brain
13	chr8:50821800-50823400	Active TSS	NHDF-Ad	bronchial
14	chr8:50821800-50824200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:50821800-50824800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:50821800-50825200	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr8:50821800-50827800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:50821800-50828600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:50822000-50822800	Active TSS	HepG2	liver
20	chr8:50822000-50823400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr8:50822000-50823600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:50822000-50824000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:50822000-50824000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:50822000-50824400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:50822000-50824400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:50822000-50824600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr8:50822000-50824600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:50822000-50828400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:50822200-50822800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:50822200-50822800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:50822200-50822800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:50822200-50822800	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr8:50822200-50822800	Flanking Bivalent TSS/Enh	HMEC	breast
34	chr8:50822200-50823000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:50822200-50823000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:50822200-50823000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr8:50822200-50823000	Active TSS	NH-A	brain
38	chr8:50822200-50823200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr8:50822200-50823600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:50822200-50824400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:50822200-50824600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:50822400-50822800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:50822400-50822800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:50822400-50822800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:50822400-50822800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:50822400-50822800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr8:50822400-50822800	Bivalent/Poised TSS	Fetal Thymus	thymus
48	chr8:50822400-50822800	Flanking Active TSS	Ovary	ovary
49	chr8:50822400-50822800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr8:50822400-50823000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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