Variant report

Variant	rs6947629
Chromosome Location	chr7:116421967-116421968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116420793..116424066-chr7:116430514..116433680,3	MCF-7	breast:
2	chr7:116308824..116313523-chr7:116420776..116428402,10	MCF-7	breast:
3	chr7:116413101..116415855-chr7:116420933..116422538,2	MCF-7	breast:
4	chr7:116332830..116334618-chr7:116420093..116422503,2	MCF-7	breast:
5	chr7:116417818..116419444-chr7:116419827..116422346,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105976	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10435378	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs168686	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16945	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183642	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187437	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs193688	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023748	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237717	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299439	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402118	0.90[AFR][1000 genomes]
rs35759345	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38854	0.86[AFR][1000 genomes]
rs38859	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41735	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41736	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41737	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41738	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41739	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41743	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41744	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41746	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41747	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41748	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41749	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs42229	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42336	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42374	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6566	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6951311	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6978135	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116378800-116422200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:116410000-116422200	Weak transcription	Adipose Nuclei	Adipose
3	chr7:116413400-116424000	Weak transcription	Colonic Mucosa	Colon
4	chr7:116415800-116424000	Enhancers	Fetal Lung	lung
5	chr7:116416800-116422400	Enhancers	Stomach Mucosa	stomach
6	chr7:116416800-116422600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:116417000-116422200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:116417400-116423000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:116417800-116423000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:116417800-116423200	Genic enhancers	NHEK	skin
11	chr7:116418000-116437600	Weak transcription	Spleen	Spleen
12	chr7:116418200-116422800	Genic enhancers	A549	lung
13	chr7:116418200-116423200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:116418400-116422000	Weak transcription	Brain Angular Gyrus	brain
15	chr7:116418600-116422000	Enhancers	Pancreas	Pancrea
16	chr7:116418600-116423000	Genic enhancers	Osteobl	bone
17	chr7:116418600-116423200	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr7:116418800-116422200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:116418800-116422600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:116418800-116424400	Strong transcription	Hela-S3	cervix
21	chr7:116419200-116422600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:116419600-116423000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:116419600-116423600	Enhancers	HSMMtube	muscle
24	chr7:116419600-116429200	Weak transcription	Fetal Brain Male	brain
25	chr7:116420000-116423200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:116420000-116423600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:116420000-116423800	Enhancers	Fetal Muscle Leg	muscle
28	chr7:116420200-116422000	Enhancers	Placenta	Placenta
29	chr7:116420200-116423000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:116420400-116422400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:116420400-116423200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:116420400-116423400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:116420600-116423000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:116420600-116423000	Enhancers	HMEC	breast
35	chr7:116420800-116422200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:116420800-116422600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:116420800-116423800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:116421000-116422000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:116421000-116422000	Weak transcription	NHDF-Ad	bronchial
40	chr7:116421000-116422200	Weak transcription	NHLF	lung
41	chr7:116421000-116422400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:116421200-116422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:116421200-116422200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:116421200-116422400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:116421200-116422800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:116421200-116423000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:116421200-116423600	Weak transcription	HepG2	liver
48	chr7:116421200-116424000	Weak transcription	Small Intestine	intestine
49	chr7:116421400-116422000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:116421400-116422200	Weak transcription	Psoas Muscle	Psoas

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