Variant report

Variant	rs6957133
Chromosome Location	chr7:5279340-5279341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5278338..5280109-chr7:5466615..5469254,2	MCF-7	breast:
2	chr7:5277560..5281384-chr7:5464859..5466747,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273084	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000234432	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58213418	1.00[EUR][1000 genomes]
rs61509153	1.00[EUR][1000 genomes]
rs6966855	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv830889	chr7:5248157-5427465	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv8034	chr7:5257953-5417973	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv887392	chr7:5263194-5359680	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5231400-5279800	Weak transcription	Fetal Brain Male	brain
2	chr7:5254200-5280000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:5258000-5279600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:5267400-5279800	Weak transcription	Right Atrium	heart
5	chr7:5268200-5280000	Weak transcription	Psoas Muscle	Psoas
6	chr7:5270200-5279800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:5271000-5279800	Weak transcription	A549	lung
8	chr7:5271000-5279800	Weak transcription	HMEC	breast
9	chr7:5271200-5279600	Weak transcription	NH-A	brain
10	chr7:5271200-5280000	Weak transcription	Colonic Mucosa	Colon
11	chr7:5271400-5279600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:5271400-5279800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:5271400-5280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:5271600-5280000	Weak transcription	HUVEC	blood vessel
15	chr7:5271800-5279800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:5272000-5279600	Weak transcription	Hela-S3	cervix
17	chr7:5272400-5279600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:5272400-5279600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:5272400-5279600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:5272400-5279600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:5272400-5279600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:5272400-5279800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:5272600-5279600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:5272600-5279800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:5272600-5280000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:5272800-5279800	Weak transcription	Brain Germinal Matrix	brain
27	chr7:5272800-5280000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:5272800-5280000	Weak transcription	Aorta	Aorta
29	chr7:5272800-5280000	Weak transcription	NHEK	skin
30	chr7:5273000-5279800	Weak transcription	Lung	lung
31	chr7:5273000-5279800	Weak transcription	Pancreas	Pancrea
32	chr7:5273000-5280000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:5273000-5280000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:5273000-5280000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:5273000-5280200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:5273200-5279600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:5273400-5279600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:5273400-5279600	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:5273400-5279800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:5273400-5279800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:5273400-5279800	Weak transcription	Right Ventricle	heart
42	chr7:5273400-5279800	Weak transcription	Dnd41	blood
43	chr7:5273400-5280000	Weak transcription	Esophagus	oesophagus
44	chr7:5273400-5280000	Weak transcription	Gastric	stomach
45	chr7:5273400-5280000	Weak transcription	Left Ventricle	heart
46	chr7:5273600-5279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:5273600-5279800	Weak transcription	Fetal Brain Female	brain
48	chr7:5274600-5279600	Weak transcription	Fetal Thymus	thymus
49	chr7:5274600-5279800	Weak transcription	Thymus	Thymus
50	chr7:5275200-5279600	Weak transcription	K562	blood

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