Variant report

Variant	rs6961389
Chromosome Location	chr7:5393243-5393244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5392202..5395491-chr7:5457316..5460762,4	MCF-7	breast:
2	chr7:5390223..5394286-chr7:5463754..5470437,10	MCF-7	breast:
3	chr7:5386316..5389607-chr7:5391900..5393906,3	MCF-7	breast:
4	chr7:5391981..5394946-chr7:5398721..5402031,4	K562	blood:
5	chr7:5392552..5394323-chr7:5466285..5467849,2	MCF-7	breast:
6	chr7:5384267..5386515-chr7:5392551..5394416,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241269	Chromatin interaction
ENSG00000188365	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000234432	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59361010	1.00[AFR][1000 genomes]
rs59771917	1.00[AFR][1000 genomes]
rs6463310	1.00[YRI][hapmap]
rs6463314	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
5	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
6	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
7	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
8	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
9	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv887395	chr7:5305297-5427128	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	333 gene(s)	inside rSNPs	diseases
13	nsv887397	chr7:5315557-5450031	Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv464291	chr7:5319387-5411356	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv605983	chr7:5319387-5411356	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv464292	chr7:5319387-5414602	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv605984	chr7:5319387-5414602	Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv887398	chr7:5328429-5427128	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
20	nsv887399	chr7:5366935-5427128	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
22	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
23	nsv605985	chr7:5375542-5414602	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv605986	chr7:5375542-5427128	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv887400	chr7:5393243-5441337	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5359000-5394000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:5361000-5398600	Weak transcription	Hela-S3	cervix
3	chr7:5361200-5394400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:5368400-5393400	Strong transcription	Duodenum Mucosa	Duodenum
5	chr7:5369200-5393800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:5372200-5422000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:5372200-5424200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:5373600-5403200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:5376800-5411600	Weak transcription	K562	blood
10	chr7:5378400-5394000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:5383800-5396200	Weak transcription	HUVEC	blood vessel
12	chr7:5384200-5396200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:5384600-5393800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:5384600-5403200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:5384800-5394200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:5384800-5394200	Strong transcription	Placenta	Placenta
17	chr7:5384800-5394200	Weak transcription	Psoas Muscle	Psoas
18	chr7:5385000-5394000	Weak transcription	HSMM	muscle
19	chr7:5385000-5394000	Weak transcription	HSMMtube	muscle
20	chr7:5385000-5394000	Weak transcription	NH-A	brain
21	chr7:5385000-5394400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:5385000-5396000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:5385000-5398600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:5385000-5403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:5385000-5418000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:5385400-5403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:5385600-5394000	Weak transcription	Right Atrium	heart
28	chr7:5385600-5394200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:5385600-5403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:5385800-5400800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:5385800-5403600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:5385800-5404800	Strong transcription	Fetal Thymus	thymus
33	chr7:5386000-5394200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:5386000-5394200	Weak transcription	Stomach Mucosa	stomach
35	chr7:5386600-5418000	Strong transcription	Dnd41	blood
36	chr7:5387400-5394600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:5387400-5400400	Strong transcription	Thymus	Thymus
38	chr7:5387400-5406600	Strong transcription	HepG2	liver
39	chr7:5387600-5393400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr7:5387600-5394000	Strong transcription	Pancreas	Pancrea
41	chr7:5387600-5394200	Strong transcription	Esophagus	oesophagus
42	chr7:5387800-5394200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:5388000-5393400	Strong transcription	Colonic Mucosa	Colon
44	chr7:5388000-5393800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:5388200-5393800	Strong transcription	Brain Germinal Matrix	brain
46	chr7:5388600-5402800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:5388800-5394200	Strong transcription	NHEK	skin
48	chr7:5389000-5393400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr7:5389400-5393600	Strong transcription	Adipose Nuclei	Adipose
50	chr7:5389400-5393600	Strong transcription	Brain Cingulate Gyrus	brain

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