Variant report

Variant	rs6463310
Chromosome Location	chr7:5230956-5230957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:3071236..3074140-chr7:5230121..5232796,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131652	Chromatin interaction
ENSG00000103145	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10258544	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761408	0.91[ASN][1000 genomes]
rs3801043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3801045	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236378	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4236379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4367443	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4410810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4427074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4446651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4478482	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4526271	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4530926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4538779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4720528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4724432	1.00[CHD][hapmap]
rs4724450	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724452	0.95[ASN][1000 genomes]
rs4724461	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6463311	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6463314	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463319	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961379	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961389	1.00[YRI][hapmap]
rs6965224	0.95[ASN][1000 genomes]
rs6970161	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6971240	0.82[EUR][1000 genomes]
rs7777063	0.95[ASN][1000 genomes]
rs7785898	0.95[ASN][1000 genomes]
rs7791896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7800465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7802384	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8180839	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
5	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
9	nsv1015639	chr7:5209510-5255399	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv887390	chr7:5224407-5411296	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5228800-5231000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:5229200-5231000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:5229200-5231000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:5229200-5231000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:5229200-5231000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:5229200-5231000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr7:5229200-5231000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:5229200-5231000	Active TSS	Stomach Mucosa	stomach
9	chr7:5229200-5231000	Active TSS	A549	lung
10	chr7:5229200-5231000	Active TSS	Hela-S3	cervix
11	chr7:5229200-5231400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:5229200-5231400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:5229200-5231600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:5229400-5231000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:5229400-5231000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:5229400-5231000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:5229400-5231000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:5229400-5231000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:5229400-5231000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:5229400-5231000	Active TSS	Colonic Mucosa	Colon
21	chr7:5229400-5231000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:5229400-5231000	Active TSS	Esophagus	oesophagus
23	chr7:5229400-5231000	Active TSS	Fetal Kidney	kidney
24	chr7:5229400-5231000	Active TSS	Psoas Muscle	Psoas
25	chr7:5229400-5231000	Active TSS	GM12878-XiMat	blood
26	chr7:5229400-5231000	Active TSS	HMEC	breast
27	chr7:5229400-5231200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:5229400-5231400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:5229400-5231400	Enhancers	Fetal Brain Male	brain
30	chr7:5229400-5231400	Active TSS	HSMM	muscle
31	chr7:5229400-5231400	Active TSS	HSMMtube	muscle
32	chr7:5229400-5231800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:5229600-5231000	Active TSS	NHDF-Ad	bronchial
34	chr7:5229800-5231000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:5229800-5231200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:5230200-5231000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr7:5230400-5231000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr7:5230400-5231000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:5230400-5231200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr7:5230400-5231200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:5230400-5231200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:5230400-5231200	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr7:5230400-5231200	Flanking Active TSS	HUVEC	blood vessel
44	chr7:5230400-5231400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr7:5230400-5231400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:5230400-5231400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:5230400-5231400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr7:5230400-5231400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:5230400-5231400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:5230400-5231400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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