Variant report

Variant	rs131237
Chromosome Location	chr22:32120373-32120374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32119939-32122852..22:32334260-32338420	H1-hESC	embryonic stem cell:	embryo
2	chr22:32110777..32113551-chr22:32120326..32122209,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128254	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1013703	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs1076674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11089530	0.87[ASN][1000 genomes]
rs11703040	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703079	1.00[CHB][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs11703102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11703104	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703232	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs11703275	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703798	0.85[AMR][1000 genomes]
rs11703810	0.87[ASN][1000 genomes]
rs11703854	0.87[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11704362	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11704377	0.87[ASN][1000 genomes]
rs11705097	0.87[ASN][1000 genomes]
rs11705235	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs11705329	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12157427	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12157989	0.87[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs12159673	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12160120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160737	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12166848	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs131222	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131224	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131226	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131231	0.92[MEX][hapmap]
rs131235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131241	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131243	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131246	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131251	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131252	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131254	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs140079	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140083	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs140085	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16989291	1.00[MEX][hapmap]
rs16989374	1.00[CHB][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs16989529	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs16989540	0.84[MEX][hapmap]
rs16989600	0.84[MEX][hapmap]
rs16989601	0.84[MEX][hapmap]
rs2040981	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs2051583	0.84[MEX][hapmap]
rs2413058	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28374732	0.87[AMR][1000 genomes]
rs3804088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4603881	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55645350	0.87[ASN][1000 genomes]
rs55699591	0.87[ASN][1000 genomes]
rs56406828	0.85[AMR][1000 genomes]
rs5753682	0.85[MEX][hapmap]
rs5753753	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs5994424	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994436	0.88[GIH][hapmap]
rs5998063	0.81[AMR][1000 genomes]
rs5998064	0.85[AMR][1000 genomes]
rs5998065	0.84[AMR][1000 genomes]
rs5998066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998070	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998071	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998074	0.92[MEX][hapmap]
rs5998079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998081	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998082	0.92[AMR][1000 genomes]
rs5998084	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5998089	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998091	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998093	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998095	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998103	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998113	0.93[ASN][1000 genomes]
rs5998114	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs5998115	0.84[MEX][hapmap]
rs5998116	0.93[ASN][1000 genomes]
rs5998123	0.87[ASN][1000 genomes]
rs5998133	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs5998134	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs5998135	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs5998144	0.84[MEX][hapmap]
rs60136719	0.87[ASN][1000 genomes]
rs60209974	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60669705	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61273982	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62238893	0.87[ASN][1000 genomes]
rs62238895	0.87[ASN][1000 genomes]
rs62238904	0.87[ASN][1000 genomes]
rs62238906	0.87[ASN][1000 genomes]
rs62239167	0.88[AMR][1000 genomes]
rs62239185	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62239186	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62239187	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62239188	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62240515	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62240684	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240686	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240687	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289259	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7289535	0.81[ASN][1000 genomes]
rs7291898	0.87[ASN][1000 genomes]
rs73162139	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs740227	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8141719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8143084	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs81946	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619221	0.84[AMR][1000 genomes]
rs9619222	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9619224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9621307	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9621316	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32078800-32126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:32080400-32121400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:32081200-32126400	Weak transcription	Stomach Mucosa	stomach
4	chr22:32089400-32126000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:32102800-32123000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:32103000-32125000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr22:32105000-32121400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:32105000-32124000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:32105000-32124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:32105200-32123600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:32105400-32124200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:32105800-32123200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:32105800-32124600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:32105800-32125000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr22:32106400-32122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:32107600-32124000	Strong transcription	Placenta	Placenta
17	chr22:32109600-32128200	Weak transcription	Pancreas	Pancrea
18	chr22:32111600-32120400	Weak transcription	Esophagus	oesophagus
19	chr22:32111800-32122800	Weak transcription	Right Ventricle	heart
20	chr22:32112000-32120600	Weak transcription	NHLF	lung
21	chr22:32112200-32142000	Weak transcription	Hela-S3	cervix
22	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:32113000-32121200	Weak transcription	Aorta	Aorta
24	chr22:32113000-32123800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:32113200-32122800	Weak transcription	Psoas Muscle	Psoas
26	chr22:32113200-32132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:32113400-32121000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:32113400-32123000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:32113400-32130400	Weak transcription	NH-A	brain
30	chr22:32113400-32143800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr22:32113600-32134800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:32113600-32142000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr22:32113800-32120400	Weak transcription	Colonic Mucosa	Colon
34	chr22:32113800-32126200	Strong transcription	Fetal Intestine Small	intestine
35	chr22:32114600-32122000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:32114600-32124200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:32114600-32125200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:32114600-32125200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr22:32114600-32129400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:32114800-32120600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:32114800-32121400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:32114800-32121600	Strong transcription	Liver	Liver
43	chr22:32114800-32121600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:32114800-32121800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr22:32114800-32127200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:32114800-32127400	Strong transcription	Fetal Stomach	stomach
47	chr22:32115000-32121200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:32115000-32121600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:32115000-32121600	Strong transcription	Fetal Thymus	thymus
50	chr22:32115000-32121800	Strong transcription	Primary B cells from cord blood	blood

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