Variant report

Variant	rs72907691
Chromosome Location	chr2:189210795-189210796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
2	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
3	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
4	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

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]
rs10931368	1.00[AFR][1000 genomes];1.00[AMR][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]
rs11679949	1.00[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]
rs11685643	1.00[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]
rs11693105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11694636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][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]
rs57067423	1.00[EUR][1000 genomes]
rs57210291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59668663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60894296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[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]
rs72896851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[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]
rs72898830	1.00[AFR][1000 genomes];1.00[AMR][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]
rs72905596	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]
rs72907697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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]
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]
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:7 , 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
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
2	chr2:189194600-189218200	Weak transcription	Gastric	stomach
3	chr2:189199400-189210800	Weak transcription	HUVEC	blood vessel
4	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
5	chr2:189199800-189212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:189200600-189221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:189205200-189228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:189205600-189212000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:189205600-189215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:189205600-189227400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:189205800-189211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:189206000-189220400	Weak transcription	Fetal Stomach	stomach
13	chr2:189206200-189218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:189206400-189218800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:189207000-189211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:189208000-189211000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:189208800-189211000	Enhancers	Fetal Lung	lung
18	chr2:189209400-189211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:189209600-189211000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:189209600-189212000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:189209600-189215400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:189209800-189211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:189209800-189211200	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:189210000-189210800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:189210000-189211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:189210000-189211000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:189210000-189211200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:189210000-189211800	Weak transcription	Fetal Kidney	kidney
29	chr2:189210200-189211400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:189210200-189213400	Weak transcription	Fetal Brain Male	brain
31	chr2:189210200-189217400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:189210200-189224600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:189210400-189211800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:189210400-189214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:189210400-189225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:189210600-189211000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:189210600-189211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:189210600-189211000	Enhancers	A549	lung
39	chr2:189210600-189211000	Enhancers	Osteobl	bone

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