Variant report

Variant	rs6463311
Chromosome Location	chr7:5231628-5231629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5229879..5231449-chr7:5231595..5233756,2	K562	blood:
2	chr7:5231544..5233195-chr7:5257262..5260176,2	MCF-7	breast:
3	chr16:3071236..3074140-chr7:5230121..5232796,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157954	Chromatin interaction
ENSG00000103145	Chromatin interaction
ENSG00000131652	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10258544	0.95[ASN][1000 genomes]
rs11761408	0.87[ASN][1000 genomes]
rs11771301	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3801043	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3801045	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4236378	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4236379	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4367443	0.87[ASN][1000 genomes]
rs4410810	0.87[ASN][1000 genomes]
rs4427074	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4433032	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4446651	0.95[ASN][1000 genomes]
rs4478482	1.00[ASN][1000 genomes]
rs4526271	1.00[ASN][1000 genomes]
rs4530926	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4538779	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4720528	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4724432	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs4724450	0.95[ASN][1000 genomes]
rs4724452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724461	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6463310	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6463314	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6463319	0.91[ASN][1000 genomes]
rs6952562	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6961379	1.00[ASN][1000 genomes]
rs6965224	0.91[ASN][1000 genomes]
rs7777063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785898	0.91[ASN][1000 genomes]
rs7791896	0.91[ASN][1000 genomes]
rs7800465	0.91[ASN][1000 genomes]
rs8180839	1.00[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5229400-5231800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:5230400-5231800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr7:5230400-5231800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr7:5230600-5231800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr7:5230600-5233200	Weak transcription	Aorta	Aorta
6	chr7:5230800-5231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:5230800-5231800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:5230800-5231800	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr7:5230800-5232200	Enhancers	Small Intestine	intestine
10	chr7:5231000-5231800	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:5231000-5231800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:5231000-5231800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr7:5231000-5231800	Flanking Active TSS	Hela-S3	cervix
14	chr7:5231000-5232200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:5231000-5233000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:5231200-5231800	Enhancers	Brain Angular Gyrus	brain
17	chr7:5231200-5231800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:5231200-5231800	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:5231200-5231800	Enhancers	Placenta	Placenta
20	chr7:5231200-5231800	Genic enhancers	Fetal Thymus	thymus
21	chr7:5231200-5232000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:5231200-5232000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:5231200-5232000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:5231200-5232000	Enhancers	Liver	Liver
25	chr7:5231200-5232200	Enhancers	Gastric	stomach
26	chr7:5231200-5232600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:5231200-5232600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:5231200-5232800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:5231200-5233000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:5231200-5233000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:5231200-5233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:5231200-5239400	Weak transcription	A549	lung
33	chr7:5231200-5240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:5231200-5249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:5231200-5254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:5231400-5231800	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:5231400-5231800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:5231400-5231800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:5231400-5231800	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr7:5231400-5231800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:5231400-5231800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:5231400-5231800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:5231400-5231800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:5231400-5231800	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:5231400-5231800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
46	chr7:5231400-5232000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:5231400-5232000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr7:5231400-5232000	Enhancers	Thymus	Thymus
49	chr7:5231400-5232200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:5231400-5232400	Enhancers	Primary T helper cells fromperipheralblood	blood

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