Variant report

Variant	rs72665980
Chromosome Location	chr4:106292308-106292309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106287631..106290693-chr4:106292188..106294028,3	K562	blood:
2	chr12:90102654..90104425-chr4:106291428..106293075,2	MCF-7	breast:
3	chr4:106288031..106290693-chr4:106292188..106294028,2	K562	blood:

Variant related genes	Relation type
ENSG00000070961	Chromatin interaction
ENSG00000271614	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1017988	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1391436	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1498124	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603706	0.93[AFR][1000 genomes]
rs17035436	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17035468	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035475	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035478	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035581	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17035584	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17035586	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17035619	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647242	0.82[AFR][1000 genomes]
rs2647255	0.93[AFR][1000 genomes]
rs28561818	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34628486	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41372153	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41438151	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273475	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560414	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4698937	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4698938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699169	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699172	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699173	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55755102	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55758341	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55998107	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184249	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256811	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387770	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56397029	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58566149	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59738222	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59939789	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533188	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66517713	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66712969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66867451	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66956902	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66988826	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67075366	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67104841	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67124324	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67209101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67248885	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67457538	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67554145	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67670123	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6811159	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68146425	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823995	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665984	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668208	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72668219	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72668239	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7656023	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673307	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678439	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924282	0.82[AFR][1000 genomes]
rs924283	0.82[AFR][1000 genomes]
rs9942141	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106253800-106343000	Weak transcription	Psoas Muscle	Psoas
2	chr4:106272800-106304000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:106273400-106293000	Weak transcription	Pancreas	Pancrea
4	chr4:106274400-106326800	Weak transcription	Small Intestine	intestine
5	chr4:106274800-106294400	Weak transcription	HSMM	muscle
6	chr4:106274800-106330400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:106275800-106307800	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:106278600-106307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:106279000-106339600	Weak transcription	HSMMtube	muscle
10	chr4:106279000-106347400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:106280000-106344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:106281000-106326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:106282600-106316800	Weak transcription	Fetal Heart	heart
14	chr4:106282600-106325800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:106282600-106335600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:106283600-106330000	Weak transcription	Right Ventricle	heart
17	chr4:106285000-106326000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:106286600-106295400	Weak transcription	Hela-S3	cervix
19	chr4:106287000-106320800	Weak transcription	NH-A	brain
20	chr4:106287000-106335800	Weak transcription	Colonic Mucosa	Colon
21	chr4:106287600-106304000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:106287600-106304800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:106287600-106335600	Weak transcription	Esophagus	oesophagus
24	chr4:106287600-106357000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:106287800-106293000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:106287800-106293000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:106287800-106303800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:106287800-106303800	Weak transcription	Fetal Stomach	stomach
29	chr4:106287800-106304000	Weak transcription	Ovary	ovary
30	chr4:106287800-106306000	Weak transcription	Placenta	Placenta
31	chr4:106287800-106318600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:106287800-106320000	Weak transcription	A549	lung
33	chr4:106287800-106326800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:106287800-106330200	Weak transcription	Gastric	stomach
35	chr4:106287800-106335400	Weak transcription	Spleen	Spleen
36	chr4:106287800-106335800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:106287800-106347600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:106288400-106293000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:106288400-106293800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:106288400-106297200	Weak transcription	HMEC	breast
41	chr4:106288400-106306000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:106288400-106318600	Weak transcription	Aorta	Aorta
43	chr4:106288400-106330200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:106288400-106330200	Weak transcription	Lung	lung
45	chr4:106288600-106304000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:106288600-106325600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:106288600-106335400	Weak transcription	Thymus	Thymus
48	chr4:106288800-106292800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:106288800-106303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:106288800-106320600	Weak transcription	NHEK	skin

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