Variant report

Variant	rs17376277
Chromosome Location	chr5:112562934-112562935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519341	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13355627	0.85[ASN][1000 genomes]
rs17135465	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17135473	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17135525	0.82[EUR][1000 genomes]
rs17135541	0.87[EUR][1000 genomes]
rs17135586	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs17135601	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs17135607	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs17135615	0.87[EUR][1000 genomes]
rs1822487	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1822494	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2222145	0.87[EUR][1000 genomes]
rs2900070	0.87[EUR][1000 genomes]
rs34893422	1.00[ASN][1000 genomes]
rs41420244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs589147	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59073951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59935751	0.92[ASN][1000 genomes]
rs6871668	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6876870	0.91[EUR][1000 genomes]
rs882755	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[TSI][hapmap];0.82[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112554200-112564200	Weak transcription	Small Intestine	intestine
3	chr5:112555000-112566800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:112557400-112564800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:112557600-112566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:112557600-112566400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:112557800-112565200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:112557800-112566200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:112557800-112566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:112557800-112566400	Weak transcription	HMEC	breast
12	chr5:112557800-112566600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:112558800-112568000	Weak transcription	Psoas Muscle	Psoas
14	chr5:112559000-112564800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:112559000-112568000	Weak transcription	Aorta	Aorta
16	chr5:112559000-112570000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:112559000-112571200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:112559600-112566400	Weak transcription	Adipose Nuclei	Adipose
19	chr5:112559800-112565000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:112560000-112565400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:112560200-112568000	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:112560400-112565400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:112560600-112566400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:112560800-112564800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:112560800-112568400	Weak transcription	Fetal Stomach	stomach
26	chr5:112560800-112569000	Weak transcription	Osteobl	bone
27	chr5:112561000-112565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:112561000-112566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:112561200-112570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:112561400-112568800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:112561600-112564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:112561600-112565600	Weak transcription	Fetal Heart	heart
33	chr5:112561600-112575000	Weak transcription	Right Ventricle	heart
34	chr5:112561800-112563000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:112561800-112563600	Weak transcription	Ovary	ovary
36	chr5:112561800-112568000	Weak transcription	Left Ventricle	heart
37	chr5:112562000-112566400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:112562000-112568000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:112562200-112564800	Weak transcription	Right Atrium	heart
40	chr5:112562200-112566400	Weak transcription	NH-A	brain
41	chr5:112562200-112566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:112562200-112570400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:112562400-112564000	Weak transcription	NHEK	skin
44	chr5:112562400-112566800	Weak transcription	NHDF-Ad	bronchial

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