Variant report

Variant	rs72905596
Chromosome Location	chr2:189168960-189168961
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189168624..189170839-chr2:189170843..189173711,2	MCF-7	breast:
2	chr2:189161236..189163223-chr2:189166744..189169461,3	K562	blood:
3	chr2:189167037..189169913-chr2:189190017..189191810,2	K562	blood:
4	chr2:189167224..189169277-chr2:189170587..189173046,3	K562	blood:

Variant related genes	Relation type
ENSG00000207951	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10931353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11674292	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11678294	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678729	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679720	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11680235	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683340	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11683969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11685495	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11686476	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687577	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11689113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691788	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11692575	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11693105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11694636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695469	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151778	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185535	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185546	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185596	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185714	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12989776	0.86[EUR][1000 genomes]
rs13393442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59668663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72895717	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895720	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895723	0.86[EUR][1000 genomes]
rs72895727	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895728	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895740	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895757	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72896824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897930	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72897939	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72901578	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901590	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901594	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903509	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903511	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903524	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903526	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903527	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903532	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903537	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903560	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905551	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907987	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909505	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909545	1.00[ASN][1000 genomes]
rs72909549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909559	1.00[EUR][1000 genomes]
rs72909566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909876	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909889	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909891	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909893	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909895	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911709	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911710	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911713	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911720	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911722	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911724	0.86[EUR][1000 genomes]
rs72911729	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911733	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911739	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911740	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911751	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911762	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911775	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911777	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911779	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911782	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911793	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72913327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7423329	0.93[EUR][1000 genomes]
rs7579593	1.00[EUR][1000 genomes]
rs9288154	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:189162400-189170000	Weak transcription	Aorta	Aorta
5	chr2:189164000-189169200	Weak transcription	Pancreas	Pancrea
6	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
7	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
8	chr2:189165000-189170600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:189165600-189170200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:189167200-189169200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:189167200-189170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:189167200-189171600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:189167400-189169600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:189167400-189169600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:189167400-189172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:189167600-189170200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:189167800-189169200	Enhancers	Osteobl	bone
18	chr2:189167800-189169400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:189168000-189169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:189168000-189169200	Weak transcription	Placenta	Placenta
21	chr2:189168000-189169400	Enhancers	HSMM	muscle
22	chr2:189168000-189169400	Enhancers	NH-A	brain
23	chr2:189168000-189169400	Enhancers	NHLF	lung
24	chr2:189168000-189170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:189168000-189170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:189168000-189172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:189168200-189169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:189168200-189169000	Flanking Active TSS	HUVEC	blood vessel
29	chr2:189168200-189169200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:189168200-189172400	Weak transcription	Psoas Muscle	Psoas
31	chr2:189168200-189183200	Weak transcription	Ovary	ovary
32	chr2:189168400-189169000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:189168400-189169000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:189168400-189171200	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:189168400-189173200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:189168600-189169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:189168600-189169000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:189168600-189169000	Weak transcription	Fetal Kidney	kidney
39	chr2:189168600-189169200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:189168600-189169800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:189168600-189169800	Enhancers	NHDF-Ad	bronchial
42	chr2:189168600-189172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:189168600-189172600	Weak transcription	HMEC	breast
44	chr2:189168800-189169400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:189168800-189169400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:189168800-189169600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr2:189168800-189169600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:189168800-189170400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:189168800-189170600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:189168800-189172400	Weak transcription	NHEK	skin

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