Variant report

Variant	rs7595047
Chromosome Location	chr2:39595236-39595237
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	chr2:39594087..39595987-chr2:39607916..39609547,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10199948	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10490305	0.80[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs11886110	0.91[ASN][1000 genomes]
rs11888511	0.89[EUR][1000 genomes]
rs11898025	0.89[EUR][1000 genomes]
rs11898704	0.90[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs11902188	0.83[ASN][1000 genomes]
rs17023405	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17023552	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17023573	0.89[EUR][1000 genomes]
rs17023584	0.89[EUR][1000 genomes]
rs17038958	0.83[ASN][1000 genomes]
rs2708227	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs3770661	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55797011	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55961227	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56024079	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56361338	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56850142	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56928728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57271382	0.89[EUR][1000 genomes]
rs57401773	0.89[EUR][1000 genomes]
rs58005382	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58824151	0.91[ASN][1000 genomes]
rs59121834	0.89[EUR][1000 genomes]
rs59459399	0.83[ASN][1000 genomes]
rs59707152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61219633	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61257289	0.89[EUR][1000 genomes]
rs6544206	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6712399	0.90[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[ASN][1000 genomes]
rs6718000	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6725784	0.83[ASN][1000 genomes]
rs6727395	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6731330	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6751506	0.90[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap]
rs6755534	1.00[EUR][1000 genomes]
rs72921023	0.89[EUR][1000 genomes]
rs72927494	0.89[EUR][1000 genomes]
rs73923836	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923842	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73923844	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73923847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73923887	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923888	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923889	0.91[ASN][1000 genomes]
rs73923895	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924810	1.00[ASN][1000 genomes]
rs73924815	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924816	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924817	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924818	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73930526	0.89[EUR][1000 genomes]
rs73930538	0.89[EUR][1000 genomes]
rs7563373	1.00[CEU][hapmap]
rs7569943	0.89[EUR][1000 genomes]
rs7588265	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7591563	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7595102	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7596222	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7599017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39572200-39597600	Weak transcription	Osteobl	bone
2	chr2:39584400-39598400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:39584400-39604600	Weak transcription	Right Ventricle	heart
4	chr2:39587000-39596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:39587000-39597000	Weak transcription	NHLF	lung
6	chr2:39587000-39608800	Weak transcription	Pancreas	Pancrea
7	chr2:39587200-39604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:39587800-39604800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:39588000-39595400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:39588000-39607800	Weak transcription	Ovary	ovary
11	chr2:39588000-39608800	Weak transcription	Lung	lung
12	chr2:39588000-39609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
14	chr2:39588200-39599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:39588200-39602800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:39588200-39603000	Weak transcription	Adipose Nuclei	Adipose
17	chr2:39588400-39596800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:39588400-39603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:39588600-39599400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:39589600-39595600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:39590000-39597000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:39590000-39604800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:39590200-39597000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:39590200-39597200	Weak transcription	NHDF-Ad	bronchial
25	chr2:39590200-39597400	Weak transcription	NHEK	skin
26	chr2:39590200-39598200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:39590200-39598400	Weak transcription	Fetal Lung	lung
28	chr2:39590200-39599800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:39590200-39602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:39590200-39602800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:39590200-39604800	Weak transcription	HSMMtube	muscle
32	chr2:39590400-39598200	Weak transcription	Primary B cells from cord blood	blood
33	chr2:39590400-39599800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:39590400-39600400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:39590400-39602400	Weak transcription	Liver	Liver
36	chr2:39590600-39598200	Weak transcription	Fetal Intestine Large	intestine
37	chr2:39590600-39598200	Weak transcription	HSMM	muscle
38	chr2:39590600-39598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:39590600-39598600	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:39590600-39601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:39590600-39601200	Weak transcription	Fetal Stomach	stomach
42	chr2:39590600-39602200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:39590800-39595400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:39591000-39602000	Weak transcription	Fetal Thymus	thymus
45	chr2:39591800-39602200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:39591800-39604600	Weak transcription	NH-A	brain
47	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:39592000-39596800	Weak transcription	Brain Substantia Nigra	brain
49	chr2:39592000-39606800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:39592200-39599800	Weak transcription	Rectal Smooth Muscle	rectum

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