Variant report

Variant	rs6966613
Chromosome Location	chr7:86793494-86793495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86789627..86792814-chr7:86793487..86796665,4	MCF-7	breast:
2	chr7:86780653..86784932-chr7:86790317..86796236,8	MCF-7	breast:
3	chr7:86792984..86795614-chr7:86847472..86850861,3	MCF-7	breast:
4	chr7:86787322..86790184-chr7:86793047..86794551,2	MCF-7	breast:
5	chr7:86793067..86795598-chr7:86796456..86798752,2	MCF-7	breast:
6	chr7:86787017..86789055-chr7:86792968..86795917,2	MCF-7	breast:
7	chr7:86625566..86628417-chr7:86793431..86795954,2	K562	blood:
8	chr7:86793446..86796829-chr7:86819626..86821826,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135185	Chromatin interaction
ENSG00000200397	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10085726	0.89[AMR][1000 genomes]
rs10228392	0.92[AMR][1000 genomes]
rs10245036	0.95[JPT][hapmap]
rs10257953	0.92[AMR][1000 genomes]
rs10263920	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1058972	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1558050	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[ASN][1000 genomes]
rs17698411	0.96[EUR][1000 genomes]
rs17766011	0.96[EUR][1000 genomes]
rs1859125	0.96[EUR][1000 genomes]
rs1859126	0.94[EUR][1000 genomes]
rs1859127	0.94[EUR][1000 genomes]
rs1859128	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1981536	0.96[EUR][1000 genomes]
rs2074757	0.95[AMR][1000 genomes]
rs2108271	0.92[AMR][1000 genomes]
rs2108272	0.92[AMR][1000 genomes]
rs2190424	0.92[AMR][1000 genomes]
rs2286267	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2286268	0.90[AMR][1000 genomes]
rs2373389	0.96[EUR][1000 genomes]
rs3747807	0.92[AMR][1000 genomes]
rs3789251	0.95[AMR][1000 genomes]
rs3789252	0.95[AMR][1000 genomes]
rs3810883	1.00[JPT][hapmap]
rs4140847	0.92[AMR][1000 genomes]
rs4236504	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs4639442	0.94[AMR][1000 genomes]
rs4728685	0.90[ASN][1000 genomes]
rs4728686	0.92[AMR][1000 genomes]
rs4728688	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4728689	0.89[AMR][1000 genomes]
rs4728690	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56327053	0.96[EUR][1000 genomes]
rs6465092	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs66470321	0.84[EUR][1000 genomes]
rs6952842	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6957785	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6958626	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6958797	0.96[EUR][1000 genomes]
rs6959152	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6964225	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6978590	0.95[JPT][hapmap];0.92[YRI][hapmap]
rs739711	0.95[EUR][1000 genomes]
rs739712	0.95[EUR][1000 genomes]
rs744136	0.96[EUR][1000 genomes]
rs757159	0.84[JPT][hapmap]
rs757961	0.89[AMR][1000 genomes]
rs765968	0.95[AMR][1000 genomes]
rs7776634	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7792031	0.81[JPT][hapmap]
rs7793356	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7800541	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7810647	0.92[AMR][1000 genomes]
rs886318	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs886787	0.89[AMR][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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr7:86782600-86811400	Weak transcription	Spleen	Spleen
2	chr7:86782800-86798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:86782800-86798400	Weak transcription	Gastric	stomach
4	chr7:86782800-86810800	Weak transcription	Esophagus	oesophagus
5	chr7:86782800-86811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:86783000-86798000	Weak transcription	Lung	lung
7	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:86783200-86799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:86784000-86794200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:86784000-86796000	Weak transcription	Colonic Mucosa	Colon
11	chr7:86784200-86796200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:86784600-86793600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:86784600-86794800	Weak transcription	HSMMtube	muscle
14	chr7:86784600-86799600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:86785000-86795800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:86785600-86794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:86785600-86813400	Weak transcription	Stomach Mucosa	stomach
18	chr7:86785600-86822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:86785800-86794200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:86786000-86795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:86786000-86795200	Weak transcription	Aorta	Aorta
22	chr7:86786000-86795400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:86786000-86795400	Weak transcription	Psoas Muscle	Psoas
24	chr7:86786000-86795400	Weak transcription	Right Ventricle	heart
25	chr7:86786000-86797400	Weak transcription	Fetal Brain Male	brain
26	chr7:86786000-86801200	Weak transcription	Fetal Intestine Small	intestine
27	chr7:86786400-86794200	Weak transcription	Hela-S3	cervix
28	chr7:86786600-86794200	Weak transcription	Fetal Brain Female	brain
29	chr7:86786600-86794800	Weak transcription	Brain Substantia Nigra	brain
30	chr7:86786600-86795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:86786600-86828400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:86786800-86794800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:86786800-86795000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:86786800-86796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:86787000-86794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:86787000-86794800	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:86787200-86794200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:86788600-86830400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:86788600-86832400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:86789000-86794800	Weak transcription	Fetal Heart	heart
41	chr7:86789000-86832400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:86789000-86832400	Strong transcription	Dnd41	blood
43	chr7:86789200-86795200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:86789400-86830800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:86789600-86794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:86789600-86794600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:86789600-86832400	Strong transcription	Fetal Thymus	thymus
48	chr7:86789800-86795400	Weak transcription	Ovary	ovary
49	chr7:86789800-86833000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:86790000-86811400	Weak transcription	Pancreas	Pancrea

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