Variant report

Variant	rs210591
Chromosome Location	chr7:69247003-69247004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69211697..69213251-chr7:69245459..69247066,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1014417	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10245786	0.90[ASN][1000 genomes]
rs10257549	0.82[ASN][1000 genomes]
rs10259748	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10452738	0.82[ASN][1000 genomes]
rs11508453	0.87[ASN][1000 genomes]
rs11763186	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11974201	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11978431	0.82[ASN][1000 genomes]
rs11983891	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12333974	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12698813	0.83[ASN][1000 genomes]
rs12698816	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12698825	0.84[ASN][1000 genomes]
rs12698830	0.82[ASN][1000 genomes]
rs13226538	0.82[ASN][1000 genomes]
rs13232095	0.80[EUR][1000 genomes]
rs17140933	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17140980	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17140982	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1860488	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1985165	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2098116	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs210593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210594	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210596	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210598	0.81[EUR][1000 genomes]
rs210599	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210601	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210603	0.80[EUR][1000 genomes]
rs210604	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210606	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533427	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533428	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533429	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533430	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533431	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2533433	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2533435	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533441	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533442	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533444	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533448	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533449	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2533451	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533452	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533458	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851483	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851484	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851487	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851489	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851490	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851492	0.82[EUR][1000 genomes]
rs2851496	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851497	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851498	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851501	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851503	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851505	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851506	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851507	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851508	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851510	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851511	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851514	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851515	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851516	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2865805	0.87[ASN][1000 genomes]
rs28770244	0.82[ASN][1000 genomes]
rs34221396	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35696945	0.83[ASN][1000 genomes]
rs3886905	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717520	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718906	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs5005279	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs505949	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs513150	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs532820	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547630	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55990156	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56302473	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565505	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs576193	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs576293	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs585282	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs589983	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590609	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs593063	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595681	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60359704	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs610930	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61135042	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs626767	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627981	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs645245	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460523	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6460532	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs646233	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs649200	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6943309	0.84[AFR][1000 genomes]
rs6951921	0.82[ASN][1000 genomes]
rs6955261	0.81[AFR][1000 genomes]
rs6957302	0.80[EUR][1000 genomes]
rs6959766	0.81[EUR][1000 genomes]
rs6961164	0.85[ASN][1000 genomes]
rs6963882	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6966036	0.86[ASN][1000 genomes]
rs6978134	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6979355	0.87[ASN][1000 genomes]
rs726372	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7779010	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7786073	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7795152	0.81[ASN][1000 genomes]
rs7796973	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7797340	0.82[ASN][1000 genomes]
rs7801117	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7809145	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809934	0.85[ASN][1000 genomes]
rs877687	0.87[ASN][1000 genomes]
rs9332399	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69244800-69247200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:69245000-69247400	Enhancers	Placenta	Placenta
3	chr7:69245400-69249600	Enhancers	Right Atrium	heart
4	chr7:69245400-69250000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:69245400-69250800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:69245600-69249600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:69245600-69249600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:69245600-69249800	Enhancers	Brain Substantia Nigra	brain
9	chr7:69245600-69250800	Enhancers	Brain Germinal Matrix	brain
10	chr7:69245800-69248000	Weak transcription	NHEK	skin
11	chr7:69245800-69249200	Enhancers	NHDF-Ad	bronchial
12	chr7:69246000-69247800	Weak transcription	Fetal Heart	heart
13	chr7:69246000-69248000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:69246000-69248200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:69246000-69249600	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:69246000-69249800	Enhancers	Fetal Stomach	stomach
17	chr7:69246000-69250000	Enhancers	Fetal Muscle Leg	muscle
18	chr7:69246000-69250800	Enhancers	Adipose Nuclei	Adipose
19	chr7:69246200-69247400	Enhancers	Psoas Muscle	Psoas
20	chr7:69246200-69248200	Enhancers	Fetal Muscle Trunk	muscle
21	chr7:69246200-69249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:69246200-69250000	Enhancers	Ovary	ovary
23	chr7:69246200-69250600	Enhancers	Fetal Brain Female	brain
24	chr7:69246400-69247200	Enhancers	Lung	lung
25	chr7:69246400-69247200	Enhancers	Small Intestine	intestine
26	chr7:69246400-69247600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr7:69246400-69248200	Weak transcription	HSMM	muscle
28	chr7:69246400-69249800	Enhancers	Fetal Lung	lung
29	chr7:69246600-69247400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:69246600-69247400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:69246600-69248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:69246600-69248000	Weak transcription	Brain Anterior Caudate	brain
33	chr7:69246600-69248200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:69246600-69249200	Enhancers	Stomach Smooth Muscle	stomach
35	chr7:69246600-69249400	Enhancers	Colon Smooth Muscle	Colon
36	chr7:69246600-69252800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:69246600-69253200	Weak transcription	HSMMtube	muscle
38	chr7:69246800-69247200	Enhancers	Fetal Thymus	thymus
39	chr7:69246800-69247800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:69246800-69247800	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:69246800-69248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:69246800-69248000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:69246800-69248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:69246800-69248200	Weak transcription	Right Ventricle	heart
45	chr7:69246800-69248400	Enhancers	Fetal Brain Male	brain
46	chr7:69246800-69250800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:69246800-69253200	Weak transcription	Fetal Kidney	kidney
48	chr7:69246800-69256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:69247000-69247200	Enhancers	Left Ventricle	heart
50	chr7:69247000-69248000	Weak transcription	GM12878-XiMat	blood

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