Variant report

Variant	rs6967317
Chromosome Location	chr7:47704543-47704544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47704100..47706174-chr7:47707596..47709114,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10951916	0.81[ASN][1000 genomes]
rs11766347	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11770543	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35341430	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724608	0.81[ASN][1000 genomes]
rs4724610	0.83[ASN][1000 genomes]
rs6969715	0.83[ASN][1000 genomes]
rs7790431	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7790476	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:47699800-47705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:47699800-47706000	Weak transcription	Pancreas	Pancrea
4	chr7:47700000-47708800	Weak transcription	Spleen	Spleen
5	chr7:47701000-47704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:47701000-47708800	Weak transcription	Right Ventricle	heart
7	chr7:47701200-47705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:47701600-47705800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:47701600-47708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:47701600-47708800	Weak transcription	Fetal Kidney	kidney
11	chr7:47701600-47709000	Weak transcription	Lung	lung
12	chr7:47701800-47705200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:47701800-47705600	Weak transcription	NHLF	lung
14	chr7:47701800-47706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:47701800-47707800	Weak transcription	Primary B cells from cord blood	blood
16	chr7:47702600-47708200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:47702800-47705600	Enhancers	Fetal Intestine Small	intestine
18	chr7:47703400-47705800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:47703400-47707400	Enhancers	Fetal Intestine Large	intestine
20	chr7:47703600-47708800	Weak transcription	Psoas Muscle	Psoas
21	chr7:47703800-47705800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:47703800-47708600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:47703800-47708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:47703800-47708800	Weak transcription	Liver	Liver
25	chr7:47703800-47709000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:47704200-47704800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:47704200-47706800	Enhancers	HepG2	liver
28	chr7:47704400-47704600	Enhancers	Fetal Lung	lung
29	chr7:47704400-47704600	Enhancers	Small Intestine	intestine
30	chr7:47704400-47704800	Enhancers	HSMMtube	muscle
31	chr7:47704400-47705000	Flanking Active TSS	A549	lung
32	chr7:47704400-47705200	Enhancers	Placenta	Placenta
33	chr7:47704400-47705600	Enhancers	Primary B cells from peripheral blood	blood

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