Variant report

Variant	rs59495263
Chromosome Location	chr2:54377598-54377599
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	chr2:54341341..54343085-chr2:54376949..54378991,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10173565	0.87[ASN][1000 genomes]
rs10186140	0.88[ASN][1000 genomes]
rs10201710	0.94[ASN][1000 genomes]
rs10206954	0.86[ASN][1000 genomes]
rs11125522	0.94[ASN][1000 genomes]
rs11689599	0.93[ASN][1000 genomes]
rs11884229	0.87[ASN][1000 genomes]
rs11884435	0.87[ASN][1000 genomes]
rs12615044	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12617094	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12620359	0.85[ASN][1000 genomes]
rs12623320	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13399590	0.96[ASN][1000 genomes]
rs13406537	0.84[ASN][1000 genomes]
rs13417064	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13425449	0.95[ASN][1000 genomes]
rs1421618	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1421619	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17045536	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112126	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2112127	0.96[ASN][1000 genomes]
rs2287640	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287641	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287644	0.83[ASN][1000 genomes]
rs2287645	0.83[ASN][1000 genomes]
rs55762565	0.98[ASN][1000 genomes]
rs55994902	0.96[ASN][1000 genomes]
rs56696975	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57437150	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57536238	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57940005	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57940820	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57995357	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58125959	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59749650	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59929874	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59936071	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60798176	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61434527	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545387	0.86[ASN][1000 genomes]
rs6713993	0.93[ASN][1000 genomes]
rs6742463	0.93[ASN][1000 genomes]
rs72800778	0.94[ASN][1000 genomes]
rs7558563	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7572559	0.98[ASN][1000 genomes]
rs7574376	0.87[ASN][1000 genomes]
rs7593897	0.96[ASN][1000 genomes]
rs918356	0.81[ASN][1000 genomes]
rs9631060	0.93[ASN][1000 genomes]
rs977784	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
9	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv1006984	chr2:54343466-54384094	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv874148	chr2:54344325-54432222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1003889	chr2:54347750-54424601	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv582011	chr2:54348704-54384927	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1011433	chr2:54351145-54424601	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1012230	chr2:54351988-54422959	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv874149	chr2:54358517-54432222	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54350600-54382600	Weak transcription	Aorta	Aorta
3	chr2:54352200-54411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:54360600-54382400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:54361400-54389800	Weak transcription	Lung	lung
6	chr2:54362000-54386800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:54362000-54416400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:54362200-54391400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:54362200-54411200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:54362400-54379400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:54362400-54379400	Weak transcription	Ovary	ovary
12	chr2:54362400-54382400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:54362400-54382400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:54362400-54382600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:54362400-54386800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:54362600-54382600	Weak transcription	Right Ventricle	heart
17	chr2:54362800-54387000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:54364000-54382600	Weak transcription	HSMM	muscle
19	chr2:54364800-54380400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:54366400-54380000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:54366400-54380800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:54366400-54389200	Weak transcription	Fetal Stomach	stomach
23	chr2:54366400-54391200	Weak transcription	Spleen	Spleen
24	chr2:54366400-54397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:54366600-54379400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:54366600-54382400	Weak transcription	Left Ventricle	heart
27	chr2:54366600-54409600	Weak transcription	Psoas Muscle	Psoas
28	chr2:54367400-54416600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:54367600-54382600	Weak transcription	Primary B cells from cord blood	blood
30	chr2:54368000-54383800	Weak transcription	Gastric	stomach
31	chr2:54369600-54416600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:54371200-54382400	Weak transcription	Liver	Liver
33	chr2:54371400-54387000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:54373200-54377600	Strong transcription	Primary T cells from cord blood	blood
35	chr2:54374800-54379400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:54375800-54379400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:54376400-54377600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:54376600-54377600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:54376600-54377800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:54376800-54377800	Enhancers	HSMMtube	muscle
41	chr2:54377000-54377600	Enhancers	Adipose Nuclei	Adipose
42	chr2:54377000-54377600	Enhancers	Fetal Lung	lung
43	chr2:54377000-54377800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:54377000-54377800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:54377200-54377600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:54377200-54377600	Enhancers	Fetal Muscle Leg	muscle
47	chr2:54377200-54377800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:54377400-54377600	Enhancers	NHDF-Ad	bronchial
49	chr2:54377400-54391200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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