Variant report

Variant	rs2964551
Chromosome Location	chr5:114711740-114711741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10039741	0.90[EUR][1000 genomes]
rs10057172	1.00[CEU][hapmap]
rs10074300	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10477530	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17137659	0.90[EUR][1000 genomes]
rs2605198	1.00[CEU][hapmap]
rs2925161	0.85[EUR][1000 genomes]
rs2925164	1.00[EUR][1000 genomes]
rs2925165	1.00[EUR][1000 genomes]
rs2925167	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2925168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2925169	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2925171	0.90[EUR][1000 genomes]
rs2963743	1.00[EUR][1000 genomes]
rs2963744	1.00[EUR][1000 genomes]
rs2963745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2963746	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2963748	0.90[EUR][1000 genomes]
rs2963755	0.85[EUR][1000 genomes]
rs2963759	0.90[EUR][1000 genomes]
rs2963760	0.82[EUR][1000 genomes]
rs2963762	0.90[EUR][1000 genomes]
rs2963763	0.90[EUR][1000 genomes]
rs2963766	0.90[EUR][1000 genomes]
rs2964549	0.85[EUR][1000 genomes]
rs2964552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2964553	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2964554	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2964555	0.90[EUR][1000 genomes]
rs2964556	0.90[EUR][1000 genomes]
rs2964557	0.90[EUR][1000 genomes]
rs2964558	0.90[EUR][1000 genomes]
rs2964559	0.90[EUR][1000 genomes]
rs62370830	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62370833	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
11	esv34270	chr5:114709101-114721101	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv34634	chr5:114709137-114723044	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv34713	chr5:114709137-114723044	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 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	chr5:114702600-114712000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:114702600-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:114702600-114713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:114706400-114713200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:114708000-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:114708200-114711800	Weak transcription	NHDF-Ad	bronchial
9	chr5:114708200-114712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114708200-114712800	Weak transcription	NHEK	skin
11	chr5:114708200-114712800	Weak transcription	Osteobl	bone
12	chr5:114708200-114713000	Weak transcription	HMEC	breast
13	chr5:114708200-114713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:114708200-114713600	Weak transcription	Psoas Muscle	Psoas
15	chr5:114708200-114720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:114708400-114713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:114708600-114712800	Weak transcription	HSMMtube	muscle
18	chr5:114710600-114713000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:114710600-114713200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:114710800-114713200	Enhancers	Hela-S3	cervix
21	chr5:114711200-114711800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:114711200-114712400	Enhancers	Fetal Intestine Small	intestine
23	chr5:114711400-114712000	Enhancers	Left Ventricle	heart
24	chr5:114711400-114713600	Enhancers	Fetal Heart	heart
25	chr5:114711400-114714600	Enhancers	Fetal Muscle Leg	muscle
26	chr5:114711600-114711800	Enhancers	Duodenum Mucosa	Duodenum
27	chr5:114711600-114711800	Enhancers	HepG2	liver
28	chr5:114711600-114711800	Enhancers	NHLF	lung
29	chr5:114711600-114712000	Enhancers	Small Intestine	intestine
30	chr5:114711600-114712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:114711600-114713200	Enhancers	HSMM	muscle
32	chr5:114711600-114713800	Enhancers	Adipose Nuclei	Adipose

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