Variant report

Variant	rs131254
Chromosome Location	chr22:32131022-32131023
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32128598-32137554..22:32764253-32784733	K562	blood:
2	chr22:32129189..32131327-chr22:32145743..32148184,2	K562	blood:

Variant related genes	Relation type
ENSG00000183530	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000205853	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1013703	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076674	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];0.80[ASN][1000 genomes]
rs11089530	0.93[ASN][1000 genomes]
rs11089531	0.83[CEU][hapmap]
rs11703040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11703079	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs11703102	1.00[CHB][hapmap]
rs11703104	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11703232	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[ASN][1000 genomes]
rs11703246	0.81[YRI][hapmap]
rs11703275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11703810	0.93[ASN][1000 genomes]
rs11703854	0.93[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11704362	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704377	0.93[ASN][1000 genomes]
rs11705097	0.93[ASN][1000 genomes]
rs11705235	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs11705329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12157427	0.80[ASN][1000 genomes]
rs12157989	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap]
rs12159673	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12160120	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12160737	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12166848	0.80[ASN][1000 genomes]
rs131222	0.93[ASN][1000 genomes]
rs131224	0.93[ASN][1000 genomes]
rs131226	0.93[ASN][1000 genomes]
rs131228	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs131231	0.84[MEX][hapmap]
rs131235	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131237	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]
rs131241	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140079	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes]
rs140083	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140085	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989291	0.92[MEX][hapmap]
rs16989374	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs16989529	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[ASN][1000 genomes]
rs16989540	0.92[MEX][hapmap]
rs16989600	0.92[MEX][hapmap]
rs16989601	0.91[MEX][hapmap]
rs2040981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051583	0.92[MEX][hapmap]
rs2413058	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804088	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs4603881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55645350	0.93[ASN][1000 genomes]
rs55699591	0.93[ASN][1000 genomes]
rs5753753	0.80[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap]
rs5994424	0.93[ASN][1000 genomes]
rs5994436	0.83[CEU][hapmap]
rs5998066	1.00[CHB][hapmap]
rs5998068	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap]
rs5998074	0.84[MEX][hapmap]
rs5998079	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs5998080	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998081	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998084	0.80[ASN][1000 genomes]
rs5998085	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs5998089	0.80[ASN][1000 genomes]
rs5998091	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998093	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998095	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998098	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998099	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998103	0.93[ASN][1000 genomes]
rs5998113	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998114	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5998115	0.82[LWK][hapmap];0.92[MEX][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs5998116	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998123	0.93[ASN][1000 genomes]
rs5998133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.93[ASN][1000 genomes]
rs5998134	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[ASN][1000 genomes]
rs5998135	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs5998144	0.92[MEX][hapmap]
rs60136719	0.93[ASN][1000 genomes]
rs60209974	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs60669705	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61273982	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238893	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62238895	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62238904	0.93[ASN][1000 genomes]
rs62238906	0.93[ASN][1000 genomes]
rs62239186	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62239187	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62239188	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62240515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240684	0.93[ASN][1000 genomes]
rs62240686	0.93[ASN][1000 genomes]
rs62240687	0.93[ASN][1000 genomes]
rs7289259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289535	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7289702	0.83[CEU][hapmap]
rs7291898	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73162139	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740227	0.93[ASN][1000 genomes]
rs8136047	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs8141719	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8143084	0.80[ASN][1000 genomes]
rs81946	0.93[ASN][1000 genomes]
rs9619222	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9619224	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9621316	0.80[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32112200-32142000	Weak transcription	Hela-S3	cervix
2	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32113200-32132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32113400-32143800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:32113600-32134800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:32113600-32142000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:32120000-32132400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr22:32120600-32134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:32120800-32134400	Weak transcription	Colonic Mucosa	Colon
10	chr22:32121000-32134000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:32121000-32144000	Weak transcription	Fetal Kidney	kidney
12	chr22:32121200-32143600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr22:32121200-32143600	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:32121400-32132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:32121400-32132400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:32121400-32133400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr22:32121400-32134200	Weak transcription	HUVEC	blood vessel
18	chr22:32121400-32134400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:32121400-32134400	Weak transcription	Esophagus	oesophagus
20	chr22:32121400-32134400	Weak transcription	Ovary	ovary
21	chr22:32121400-32134400	Weak transcription	A549	lung
22	chr22:32121400-32134600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:32121400-32143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:32121600-32134400	Weak transcription	Fetal Brain Female	brain
25	chr22:32121600-32144000	Weak transcription	Brain Anterior Caudate	brain
26	chr22:32121600-32144000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:32121600-32144400	Weak transcription	HSMMtube	muscle
28	chr22:32121600-32144600	Weak transcription	Fetal Brain Male	brain
29	chr22:32121800-32132400	Weak transcription	Brain Germinal Matrix	brain
30	chr22:32121800-32132400	Weak transcription	Fetal Lung	lung
31	chr22:32122000-32140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:32123000-32134200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:32123200-32133800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr22:32123200-32134400	Weak transcription	Left Ventricle	heart
35	chr22:32123200-32134400	Weak transcription	Right Atrium	heart
36	chr22:32123200-32134600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:32123200-32144600	Weak transcription	Psoas Muscle	Psoas
38	chr22:32123200-32144800	Weak transcription	Right Ventricle	heart
39	chr22:32124200-32131200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:32124200-32132400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:32124200-32132400	Weak transcription	Fetal Muscle Leg	muscle
42	chr22:32124200-32144600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:32124200-32144600	Weak transcription	Spleen	Spleen
44	chr22:32124600-32132400	Weak transcription	Dnd41	blood
45	chr22:32125200-32134000	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:32125200-32134200	Weak transcription	K562	blood
47	chr22:32125200-32134400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr22:32125200-32143400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr22:32125200-32143800	Weak transcription	Brain Substantia Nigra	brain
50	chr22:32125200-32144600	Weak transcription	Brain Angular Gyrus	brain

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