Variant report

Variant	rs131243
Chromosome Location	chr22:32124778-32124779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32082408..32084266-chr22:32123563..32125534,2	K562	blood:

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

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

rs_ID	r²[population]
rs1013703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];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];0.84[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	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[ASN][1000 genomes]
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	0.94[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[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12157427	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12157989	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];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12160737	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12166848	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs131222	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131224	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131226	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131228	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131231	0.84[MEX][hapmap]
rs131235	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131237	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]
rs131241	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131251	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131254	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]
rs140079	1.00[ASW][hapmap];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]
rs140083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140085	0.94[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	0.86[ASW][hapmap];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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804088	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4603881	0.94[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	0.84[AMR][1000 genomes];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];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998080	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998081	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998084	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998085	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs5998089	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998091	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998093	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998095	0.84[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];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998099	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998103	0.93[ASN][1000 genomes]
rs5998113	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs5998115	0.92[MEX][hapmap]
rs5998116	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998123	0.93[ASN][1000 genomes]
rs5998133	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.93[ASN][1000 genomes]
rs5998134	0.86[ASW][hapmap];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	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs60669705	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61273982	0.98[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]
rs62239185	0.81[AMR][1000 genomes]
rs62239186	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62239187	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62239188	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62240515	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240684	0.84[AMR][1000 genomes];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];0.92[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	0.93[ASN][1000 genomes]
rs73162139	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740227	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8136047	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8141719	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8143084	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs81946	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9619222	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9619224	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9621316	0.84[AMR][1000 genomes];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:125 , 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	chr22:32081200-32126400	Weak transcription	Stomach Mucosa	stomach
3	chr22:32089400-32126000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:32103000-32125000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:32105800-32125000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr22:32109600-32128200	Weak transcription	Pancreas	Pancrea
7	chr22:32112200-32142000	Weak transcription	Hela-S3	cervix
8	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:32113200-32132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:32113400-32130400	Weak transcription	NH-A	brain
11	chr22:32113400-32143800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr22:32113600-32134800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:32113600-32142000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:32113800-32126200	Strong transcription	Fetal Intestine Small	intestine
15	chr22:32114600-32125200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:32114600-32125200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:32114600-32129400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:32114800-32127200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:32114800-32127400	Strong transcription	Fetal Stomach	stomach
20	chr22:32115600-32126800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:32116000-32128400	Weak transcription	Small Intestine	intestine
22	chr22:32120000-32128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:32120000-32130200	Weak transcription	HMEC	breast
24	chr22:32120000-32132400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr22:32120600-32134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:32120800-32134400	Weak transcription	Colonic Mucosa	Colon
27	chr22:32121000-32134000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:32121000-32144000	Weak transcription	Fetal Kidney	kidney
29	chr22:32121200-32124800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:32121200-32128400	Weak transcription	NHEK	skin
31	chr22:32121200-32130400	Weak transcription	NHDF-Ad	bronchial
32	chr22:32121200-32143600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:32121200-32143600	Weak transcription	Colon Smooth Muscle	Colon
34	chr22:32121400-32124800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:32121400-32124800	Weak transcription	K562	blood
36	chr22:32121400-32128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:32121400-32128000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr22:32121400-32128200	Weak transcription	Gastric	stomach
39	chr22:32121400-32128200	Weak transcription	Osteobl	bone
40	chr22:32121400-32129200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:32121400-32130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:32121400-32130400	Weak transcription	Thymus	Thymus
43	chr22:32121400-32130400	Weak transcription	NHLF	lung
44	chr22:32121400-32130600	Weak transcription	Aorta	Aorta
45	chr22:32121400-32132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:32121400-32132400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:32121400-32133400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr22:32121400-32134200	Weak transcription	HUVEC	blood vessel
49	chr22:32121400-32134400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:32121400-32134400	Weak transcription	Esophagus	oesophagus

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