Variant report

Variant	rs17128871
Chromosome Location	chr14:56317755-56317756
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	chr14:56304789..56307595-chr14:56316105..56318121,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12588231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12588715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12589557	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12590605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878170	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12886283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12886883	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12887415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12888134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12891989	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12892029	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12892971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896271	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17128832	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17128836	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17128847	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17128862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17128875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1953361	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2095490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34130924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34181761	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34190854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34403994	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34749214	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34831029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34973073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35177157	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35201150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35361184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35604109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35657227	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35787613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35847182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35874101	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35969016	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57997565	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71412699	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7144347	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7149370	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7154675	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7158865	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7161015	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][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	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	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	chr14:56315200-56317800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:56316800-56318400	Enhancers	Stomach Mucosa	stomach
3	chr14:56316800-56319000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:56316800-56319000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:56317000-56318000	Weak transcription	Aorta	Aorta
6	chr14:56317000-56318400	Enhancers	Adipose Nuclei	Adipose
7	chr14:56317200-56319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:56317200-56319200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:56317400-56318000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:56317400-56318000	Flanking Active TSS	NHDF-Ad	bronchial
11	chr14:56317400-56318200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:56317400-56318200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:56317400-56318400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:56317400-56318400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:56317400-56318400	Enhancers	Ovary	ovary
16	chr14:56317400-56318400	Enhancers	HMEC	breast
17	chr14:56317400-56318400	Enhancers	Osteobl	bone
18	chr14:56317400-56318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:56317400-56318600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:56317400-56318600	Enhancers	Hela-S3	cervix
21	chr14:56317400-56319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:56317400-56319000	Enhancers	NHLF	lung
23	chr14:56317400-56319200	Enhancers	HSMMtube	muscle
24	chr14:56317600-56318000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:56317600-56318000	Enhancers	Spleen	Spleen
26	chr14:56317600-56318400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:56317600-56318400	Enhancers	Esophagus	oesophagus
28	chr14:56317600-56318400	Enhancers	HSMM	muscle
29	chr14:56317600-56318400	Enhancers	NH-A	brain
30	chr14:56317600-56318400	Enhancers	NHEK	skin
31	chr14:56317600-56318600	Enhancers	HUVEC	blood vessel
32	chr14:56317600-56319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:56317600-56319000	Enhancers	Right Atrium	heart

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