Variant report

Variant	rs2645115
Chromosome Location	chr6:37995227-37995228
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	chr6:37990598..37992933-chr6:37993341..37995757,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11964613	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11964671	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11968604	0.95[AMR][1000 genomes]
rs11970017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11970145	1.00[AMR][1000 genomes]
rs13198459	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13203867	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13205214	1.00[JPT][hapmap]
rs13207526	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13210087	0.90[ASN][1000 genomes]
rs13210967	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13211881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13217630	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs13218158	1.00[AMR][1000 genomes]
rs13219500	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16890185	1.00[JPT][hapmap]
rs16890194	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890301	0.89[EUR][1000 genomes]
rs16890365	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2453882	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2645096	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2645098	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2645104	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645118	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645121	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645123	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645126	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2842498	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842499	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842511	0.80[AMR][1000 genomes]
rs2842512	0.80[AMR][1000 genomes]
rs2842513	0.87[AMR][1000 genomes]
rs2842514	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842516	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842524	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34011349	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34038972	0.82[EUR][1000 genomes]
rs34054102	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34123707	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34406273	0.82[EUR][1000 genomes]
rs34611895	1.00[AMR][1000 genomes]
rs34745343	1.00[AMR][1000 genomes]
rs34754573	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35202194	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35248825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35330991	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35597126	0.82[EUR][1000 genomes]
rs35609407	1.00[AMR][1000 genomes]
rs35953900	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4394213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4711518	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55943813	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56391784	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6458037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6908761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6910837	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912250	1.00[AMR][1000 genomes]
rs6916057	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6916535	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6917208	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6918802	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6919884	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6923132	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6923254	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6923665	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6925563	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6933547	1.00[YRI][hapmap]
rs6940491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71569395	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71569399	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71569402	0.89[EUR][1000 genomes]
rs7740636	0.82[EUR][1000 genomes]
rs7742379	1.00[AMR][1000 genomes]
rs7747538	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7757560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7760770	0.95[AMR][1000 genomes]
rs7766767	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7776025	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9296236	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv34450	chr6:37963308-38007241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763549	chr6:37985025-38014006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37985000-37995600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
4	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:37985200-37995400	Weak transcription	A549	lung
6	chr6:37985200-37995600	Weak transcription	Brain Angular Gyrus	brain
7	chr6:37985200-38001400	Weak transcription	Small Intestine	intestine
8	chr6:37988000-38001400	Weak transcription	Stomach Mucosa	stomach
9	chr6:37988400-37995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:37989800-37995400	Weak transcription	Brain Substantia Nigra	brain
11	chr6:37989800-37995400	Weak transcription	Left Ventricle	heart
12	chr6:37989800-37995600	Weak transcription	Primary T cells from cord blood	blood
13	chr6:37990400-38000400	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:37990600-38005800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:37992600-37995400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:37992800-37995400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:37992800-37998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:37993000-38001800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:37993400-37995400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:37993600-37995400	Weak transcription	Osteobl	bone
21	chr6:37993800-37995400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:37993800-37995400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:37993800-37995400	Weak transcription	NHDF-Ad	bronchial
24	chr6:37993800-37995800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:37994000-37996600	Enhancers	Dnd41	blood
26	chr6:37994400-37995800	Enhancers	Psoas Muscle	Psoas
27	chr6:37994400-37999200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:37994400-38011400	Weak transcription	Aorta	Aorta
29	chr6:37994600-37995600	Weak transcription	Spleen	Spleen
30	chr6:37994600-37995800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:37994600-37996000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:37994600-37996000	Enhancers	Colon Smooth Muscle	Colon
33	chr6:37994600-37996600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:37994600-37996800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:37994800-37995400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:37994800-37995800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:37994800-37996000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:37995000-37995400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:37995000-37995600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:37995000-37995800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:37995000-37996000	Enhancers	HSMMtube	muscle
42	chr6:37995000-37996600	Enhancers	GM12878-XiMat	blood
43	chr6:37995000-37996800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:37995000-37997200	Enhancers	Liver	Liver
45	chr6:37995000-37998000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:37995200-37995800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:37995200-37996000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:37995200-37996000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr6:37995200-37996200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr6:37995200-37996600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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