Variant report

Variant	rs1472364
Chromosome Location	chr6:37990758-37990759
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: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12191440	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12194872	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.83[MKK][hapmap]
rs12196555	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs12524157	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1390735	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.83[MKK][hapmap]
rs4711519	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6933547	0.87[CHB][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37983000-37994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:37983400-37994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:37985000-37995600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37985200-37991400	Weak transcription	GM12878-XiMat	blood
8	chr6:37985200-37995000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:37985200-37995400	Weak transcription	A549	lung
10	chr6:37985200-37995600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:37985200-38001400	Weak transcription	Small Intestine	intestine
12	chr6:37985400-37992200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:37987000-37993600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:37987400-37990800	Enhancers	Colon Smooth Muscle	Colon
15	chr6:37987800-37990800	Enhancers	Fetal Stomach	stomach
16	chr6:37988000-38001400	Weak transcription	Stomach Mucosa	stomach
17	chr6:37988400-37995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:37989000-37991600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:37989200-37992600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:37989400-37995000	Weak transcription	Liver	Liver
21	chr6:37989600-37994600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:37989600-37995000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:37989800-37990800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:37989800-37992200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:37989800-37994400	Weak transcription	Psoas Muscle	Psoas
26	chr6:37989800-37995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:37989800-37995400	Weak transcription	Brain Substantia Nigra	brain
28	chr6:37989800-37995400	Weak transcription	Left Ventricle	heart
29	chr6:37989800-37995600	Weak transcription	Primary T cells from cord blood	blood
30	chr6:37990400-38000400	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:37990600-37990800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:37990600-38005800	Weak transcription	Stomach Smooth Muscle	stomach

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