Variant report

Variant	rs738702
Chromosome Location	chr22:31977594-31977595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
2	chr22:31974878..31977685-chr22:31979541..31981630,2	K562	blood:
3	22:31976153-31978142..22:32162110-32166713	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000241878	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1044085	1.00[ASW][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10775716	0.85[ASN][1000 genomes]
rs11089512	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11089514	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11089515	0.82[EUR][1000 genomes]
rs12166823	0.91[TSI][hapmap]
rs12170867	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12171042	0.83[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs12485048	0.84[TSI][hapmap]
rs1543416	0.81[JPT][hapmap]
rs2024747	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs2092905	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs2108107	0.91[TSI][hapmap]
rs2236033	0.83[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2281440	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295242	1.00[JPT][hapmap]
rs2295251	0.83[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs2387	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3818134	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4820051	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820979	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4820980	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs4820983	0.81[JPT][hapmap]
rs5749293	1.00[ASW][hapmap];0.90[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs5749301	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749303	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749304	0.91[JPT][hapmap]
rs5749306	0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5753620	1.00[ASW][hapmap];0.81[CHD][hapmap];0.91[TSI][hapmap]
rs5753622	1.00[ASW][hapmap];0.81[CHD][hapmap];0.91[TSI][hapmap]
rs5753633	1.00[ASW][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap]
rs5753647	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753650	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753657	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753667	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs5753675	0.83[EUR][1000 genomes]
rs5753677	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753681	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs5753686	0.81[JPT][hapmap]
rs5753691	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs5753714	0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs5753715	0.85[ASN][1000 genomes]
rs5753716	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753734	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs59285943	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5994415	0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs5998042	0.86[JPT][hapmap]
rs5998054	0.83[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs7289075	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs7291918	0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs738656	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs738684	0.83[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs761746	0.83[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs8461	0.81[JPT][hapmap]
rs9621269	0.86[CEU][hapmap]
rs9621291	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9621305	0.91[TSI][hapmap]
rs9956	0.81[CHD][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	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
5	nsv979746	chr22:31976201-31982901	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
2	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
3	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
4	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
5	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:31941400-31981400	Weak transcription	NHEK	skin
9	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
12	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
13	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:31954400-31980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr22:31957200-31977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:31957800-31979600	Weak transcription	K562	blood
18	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:31964400-31979800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
21	chr22:31965000-31977600	Strong transcription	Primary T cells from cord blood	blood
22	chr22:31965200-31977600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:31967000-31977600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
27	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:31970400-31977800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:31970600-31980000	Weak transcription	Fetal Lung	lung
30	chr22:31970600-31980600	Weak transcription	Brain Angular Gyrus	brain
31	chr22:31970600-31980800	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:31970600-31981400	Weak transcription	Pancreas	Pancrea
33	chr22:31970800-31979400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr22:31970800-31979800	Weak transcription	Osteobl	bone
35	chr22:31971400-31982000	Weak transcription	Gastric	stomach
36	chr22:31971600-31981200	Weak transcription	HMEC	breast
37	chr22:31971800-31979800	Weak transcription	NH-A	brain
38	chr22:31971800-31982000	Weak transcription	Brain Substantia Nigra	brain
39	chr22:31972000-31978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:31972000-31979600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:31972000-31979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:31972000-31979800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr22:31972000-31980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:31972000-31981200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:31972000-31981600	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:31972000-31982600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:31972200-31979600	Weak transcription	NHLF	lung
48	chr22:31973600-31979600	Weak transcription	HSMM	muscle
49	chr22:31973800-31979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:31973800-31980600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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