Variant report

Variant	rs2963747
Chromosome Location	chr5:114707689-114707690
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	chr5:114701068..114703742-chr5:114706747..114709542,2	MCF-7	breast:
2	chr5:114700131..114702425-chr5:114706517..114709440,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10477531	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11241322	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11740600	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11745205	0.81[EUR][1000 genomes]
rs13162208	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17137667	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17137708	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17383865	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1812674	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2016888	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2198712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2925170	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925172	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2963749	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963758	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2963765	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2964560	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35389100	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6887728	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs751485	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7714928	0.81[EUR][1000 genomes]
rs897478	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882731	chr5:114702503-114721081	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv882732	chr5:114702503-114722599	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3470654	chr5:114706116-114721234	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3470655	chr5:114706116-114721234	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv1025594	chr5:114706443-114721081	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv441963	chr5:114706443-114721085	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
2	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
3	chr5:114702200-114711400	Weak transcription	Left Ventricle	heart
4	chr5:114702600-114707800	Weak transcription	HMEC	breast
5	chr5:114702600-114712000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:114702600-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:114702600-114713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:114702800-114707800	Weak transcription	HSMMtube	muscle
9	chr5:114703000-114707800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:114705600-114709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:114705800-114708000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:114706400-114713200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:114706600-114707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:114706600-114708000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:114706600-114708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:114706800-114707800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:114706800-114708000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:114706800-114708600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:114707000-114708600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:114707400-114708400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:114707600-114708200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:114707600-114708200	Enhancers	Fetal Muscle Leg	muscle
23	chr5:114707600-114708200	Enhancers	Psoas Muscle	Psoas
24	chr5:114707600-114708200	Enhancers	NHDF-Ad	bronchial
25	chr5:114707600-114708200	Enhancers	NHEK	skin
26	chr5:114707600-114708200	Enhancers	Osteobl	bone
27	chr5:114707600-114708400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:114707600-114708400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:114707600-114708600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:114707600-114708600	Enhancers	Hela-S3	cervix

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