Variant report

Variant	rs8139560
Chromosome Location	chr22:32003798-32003799
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	ELF1	chr22:32003663-32004052	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:32003767-32003944	K562	blood:	n/a	n/a
3	POLR2A	chr22:32003649-32004532	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:32003755-32003993	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:32003718-32004542	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32000648..32004011-chr22:32006419..32009000,3	K562	blood:

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1018486	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1018487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018488	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12165609	1.00[ASN][1000 genomes]
rs12168645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130089	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13433626	1.00[ASN][1000 genomes]
rs16989274	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989278	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989279	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16989312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989334	1.00[ASN][1000 genomes]
rs16989336	1.00[ASN][1000 genomes]
rs16989379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989617	0.80[EUR][1000 genomes]
rs16989620	0.80[EUR][1000 genomes]
rs16989682	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989753	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989760	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2009893	1.00[ASN][1000 genomes]
rs41302569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45594940	1.00[ASN][1000 genomes]
rs55648708	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673702	1.00[ASN][1000 genomes]
rs55684328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728055	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734125	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806621	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55844032	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853109	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55868468	1.00[ASN][1000 genomes]
rs55894054	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55916646	1.00[ASN][1000 genomes]
rs55931230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56112397	1.00[EUR][1000 genomes]
rs56150546	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56156742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211407	1.00[ASN][1000 genomes]
rs56227594	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56298010	1.00[ASN][1000 genomes]
rs56318295	1.00[ASN][1000 genomes]
rs56355520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411340	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57103115	1.00[ASN][1000 genomes]
rs5753700	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57886497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58365021	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58807171	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58825043	0.80[AFR][1000 genomes]
rs60324934	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60359561	1.00[ASN][1000 genomes]
rs60907110	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61151238	1.00[ASN][1000 genomes]
rs61561528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236218	0.80[EUR][1000 genomes]
rs62236223	0.81[EUR][1000 genomes]
rs62236224	0.81[EUR][1000 genomes]
rs62236225	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236226	0.81[EUR][1000 genomes]
rs62236230	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236231	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236232	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62236257	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236258	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237760	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237761	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237764	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62237765	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237767	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237768	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237770	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237772	0.83[ASN][1000 genomes]
rs62237773	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237774	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237775	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237790	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237791	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237794	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237797	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237806	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237810	0.88[AFR][1000 genomes]
rs62237812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237813	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237814	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237819	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237836	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237837	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237839	1.00[ASN][1000 genomes]
rs62237841	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237844	1.00[AFR][1000 genomes]
rs62237845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237846	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237847	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237848	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237849	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237850	1.00[ASN][1000 genomes]
rs62237852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237857	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62239168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239172	1.00[ASN][1000 genomes]
rs62239174	1.00[ASN][1000 genomes]
rs62239180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239183	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62240689	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518753	1.00[ASN][1000 genomes]
rs66666267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67935422	1.00[ASN][1000 genomes]
rs7285091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285893	1.00[ASN][1000 genomes]
rs7286496	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7287417	1.00[ASN][1000 genomes]
rs7287509	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7287516	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7288051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292913	1.00[ASN][1000 genomes]
rs7292915	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7293143	1.00[ASN][1000 genomes]
rs73160635	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160655	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160658	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162106	1.00[ASN][1000 genomes]
rs73162112	1.00[ASN][1000 genomes]
rs8137314	1.00[ASN][1000 genomes]
rs8139274	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8139316	0.91[AFR][1000 genomes]
rs8142002	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8142355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142821	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9619215	1.00[ASN][1000 genomes]
rs9619217	1.00[ASN][1000 genomes]
rs9621295	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621299	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
4	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
7	chr22:31976200-32014800	Weak transcription	A549	lung
8	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
10	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31985800-32006600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:31985800-32010400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:31996000-32008400	Strong transcription	Primary T cells from cord blood	blood
20	chr22:31996200-32010000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr22:31996400-32010800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:31996600-32010600	Strong transcription	Thymus	Thymus
23	chr22:31996600-32011200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr22:31996600-32011800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:31996600-32012200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:31996800-32011600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:31997200-32012000	Strong transcription	Fetal Thymus	thymus
30	chr22:31997400-32010400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr22:31997600-32006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:31997600-32008000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr22:31997600-32011400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr22:31998000-32008000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr22:31998400-32008000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr22:31998400-32015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
38	chr22:31998800-32003800	Weak transcription	Brain Anterior Caudate	brain
39	chr22:31998800-32004200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:31998800-32004400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:31998800-32004600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:31998800-32006800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:31998800-32007000	Weak transcription	Liver	Liver
44	chr22:31998800-32010200	Weak transcription	Left Ventricle	heart
45	chr22:31998800-32012200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:31999000-32010000	Weak transcription	Right Ventricle	heart
47	chr22:31999000-32010200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:31999000-32010600	Weak transcription	Osteobl	bone
49	chr22:31999000-32011800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr22:31999000-32013800	Weak transcription	HMEC	breast

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