Variant report

Variant	rs2075008
Chromosome Location	chr7:38247486-38247487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38246853..38248824-chr7:38252553..38254232,2	MCF-7	breast:
2	chr7:38218320..38221053-chr7:38246020..38247686,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11561858	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12154578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155282	0.84[AMR][1000 genomes]
rs12155480	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12701609	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701612	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12701619	0.84[AMR][1000 genomes]
rs13224408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228253	0.83[EUR][1000 genomes]
rs13228385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13230963	0.84[AMR][1000 genomes]
rs13235913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13241002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13244147	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs13244639	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17150899	1.00[CEU][hapmap]
rs17171309	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17171318	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs17171319	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs17171320	1.00[CEU][hapmap]
rs17171321	1.00[CEU][hapmap]
rs2240827	1.00[CEU][hapmap]
rs2240836	0.87[CEU][hapmap]
rs2270166	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270170	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs34053049	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34362539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34367511	0.84[AMR][1000 genomes]
rs34385844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34723472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34809818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34854936	0.84[EUR][1000 genomes]
rs34928238	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34938473	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34954380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35130602	0.84[AMR][1000 genomes]
rs35268837	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35505895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35506556	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35849318	0.84[EUR][1000 genomes]
rs35899177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71546636	0.88[EUR][1000 genomes]
rs71548605	0.84[AMR][1000 genomes]
rs7349990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7795457	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9638936	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1030349	chr7:38227528-38372719	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv538818	chr7:38227528-38372719	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv433041	chr7:38229107-38358728	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv433044	chr7:38238119-38358728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
2	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:38223600-38255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:38228000-38256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:38228200-38254400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:38229200-38249200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:38230200-38259200	Weak transcription	K562	blood
8	chr7:38232400-38255000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:38232800-38255200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:38232800-38256000	Weak transcription	Fetal Brain Male	brain
11	chr7:38235200-38251400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:38235800-38249000	Weak transcription	Thymus	Thymus
13	chr7:38235800-38251200	Weak transcription	Fetal Kidney	kidney
14	chr7:38236000-38250800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:38236000-38252000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:38236000-38254200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:38236000-38254600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:38236400-38254800	Weak transcription	Brain Germinal Matrix	brain
19	chr7:38236800-38250600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:38236800-38254600	Weak transcription	Small Intestine	intestine
21	chr7:38236800-38261600	Weak transcription	HMEC	breast
22	chr7:38237000-38249200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:38237000-38255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:38237200-38255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:38237600-38258600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:38237800-38251400	Weak transcription	Right Ventricle	heart
27	chr7:38237800-38252200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:38237800-38261600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:38238000-38249000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:38238000-38251200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:38238000-38257000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:38238000-38259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:38238400-38249200	Weak transcription	A549	lung
34	chr7:38238400-38249400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:38238400-38250800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:38238400-38251600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:38238400-38255400	Weak transcription	Lung	lung
38	chr7:38238600-38249000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:38238600-38249000	Weak transcription	Adipose Nuclei	Adipose
40	chr7:38238600-38249000	Weak transcription	Fetal Stomach	stomach
41	chr7:38238600-38250800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:38238600-38254600	Weak transcription	NH-A	brain
43	chr7:38238600-38268800	Weak transcription	Esophagus	oesophagus
44	chr7:38239200-38250800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:38239200-38254600	Weak transcription	Gastric	stomach
46	chr7:38239200-38254600	Weak transcription	NHLF	lung
47	chr7:38239200-38255600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:38239200-38256200	Weak transcription	Aorta	Aorta
49	chr7:38239400-38254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:38239600-38252000	Weak transcription	Rectal Smooth Muscle	rectum

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