Variant report

Variant	rs12160120
Chromosome Location	chr22:32104168-32104169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32102727-32109893..22:32846948-32860159	GM12878	blood:

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1013703	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1076674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[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];0.83[AMR][1000 genomes]
rs11703102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11703104	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703232	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703275	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703810	0.87[ASN][1000 genomes]
rs11703854	0.87[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11704362	0.93[ASN][1000 genomes]
rs11704377	0.87[ASN][1000 genomes]
rs11705097	0.87[ASN][1000 genomes]
rs11705235	1.00[CHB][hapmap]
rs11705329	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12157427	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12157989	0.87[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs12159673	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12160737	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12166848	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs131222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131224	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131226	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131241	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131243	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131246	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131251	0.93[ASN][1000 genomes]
rs131252	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs131254	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs140079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140083	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs140085	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16989374	1.00[CHB][hapmap]
rs16989529	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2040981	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2413058	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28374732	0.89[AMR][1000 genomes]
rs3804088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4603881	0.93[ASN][1000 genomes]
rs55645350	0.87[ASN][1000 genomes]
rs55699591	0.87[ASN][1000 genomes]
rs56406828	0.83[AMR][1000 genomes]
rs5753753	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap]
rs5994424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998065	0.82[AMR][1000 genomes]
rs5998066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998070	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998071	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998081	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998082	0.85[AMR][1000 genomes]
rs5998084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998089	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998091	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998093	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998095	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998103	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998113	0.93[ASN][1000 genomes]
rs5998114	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs5998116	0.93[ASN][1000 genomes]
rs5998123	0.87[ASN][1000 genomes]
rs5998133	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs5998134	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs5998135	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs60136719	0.87[ASN][1000 genomes]
rs60209974	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60669705	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61273982	0.80[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	0.86[AMR][1000 genomes]
rs62239185	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62239186	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62239187	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62239188	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62240515	0.93[ASN][1000 genomes]
rs62240684	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240686	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240687	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289259	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7289535	0.81[ASN][1000 genomes]
rs7291898	0.87[ASN][1000 genomes]
rs73162139	0.93[ASN][1000 genomes]
rs740227	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8141719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8143084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs81946	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619221	0.85[AMR][1000 genomes]
rs9619222	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9619224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9621307	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9621316	0.94[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32073400-32111800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:32076600-32107600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32077200-32108000	Weak transcription	Psoas Muscle	Psoas
4	chr22:32077200-32109200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:32078000-32111400	Strong transcription	Fetal Intestine Small	intestine
6	chr22:32078400-32111800	Strong transcription	Fetal Stomach	stomach
7	chr22:32078800-32107800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:32078800-32126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:32079000-32113800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr22:32080400-32121400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:32081200-32126400	Weak transcription	Stomach Mucosa	stomach
12	chr22:32081600-32110600	Weak transcription	Hela-S3	cervix
13	chr22:32089200-32113800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:32089400-32126000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:32089800-32108000	Weak transcription	A549	lung
16	chr22:32091800-32108200	Weak transcription	Pancreas	Pancrea
17	chr22:32092000-32113800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:32093800-32108000	Weak transcription	Fetal Brain Male	brain
19	chr22:32095000-32104400	Strong transcription	Liver	Liver
20	chr22:32095400-32113400	Strong transcription	Fetal Intestine Large	intestine
21	chr22:32098200-32107800	Weak transcription	Colonic Mucosa	Colon
22	chr22:32098600-32111600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:32099400-32110000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:32099600-32105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:32099600-32106200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:32099600-32108000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:32099600-32108000	Weak transcription	Fetal Kidney	kidney
28	chr22:32099600-32111400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:32099800-32108000	Weak transcription	Small Intestine	intestine
30	chr22:32100800-32105800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:32100800-32106200	Weak transcription	HepG2	liver
32	chr22:32100800-32106200	Weak transcription	NH-A	brain
33	chr22:32100800-32107800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr22:32100800-32107800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr22:32100800-32108000	Weak transcription	Brain Anterior Caudate	brain
36	chr22:32100800-32108000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:32100800-32108000	Weak transcription	K562	blood
38	chr22:32100800-32108800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:32101000-32104600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr22:32101000-32105000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:32101000-32105200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:32101000-32105200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:32101000-32105800	Weak transcription	Fetal Brain Female	brain
44	chr22:32101000-32106000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr22:32101000-32106000	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:32101000-32106200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr22:32101000-32106600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:32101000-32106600	Weak transcription	Primary B cells from cord blood	blood
49	chr22:32101000-32106600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:32101000-32106600	Weak transcription	Colon Smooth Muscle	Colon

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