Variant report

Variant	rs57217517
Chromosome Location	chr5:95216167-95216168
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	chr5:95214888..95216647-chr5:95219513..95221406,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28926199	1.00[AMR][1000 genomes]
rs4330485	1.00[AMR][1000 genomes]
rs55652330	1.00[AMR][1000 genomes]
rs55757346	1.00[AMR][1000 genomes]
rs57808386	1.00[AMR][1000 genomes]
rs58292647	1.00[AMR][1000 genomes]
rs59433710	1.00[AMR][1000 genomes]
rs60897703	1.00[AMR][1000 genomes]
rs61572029	1.00[AMR][1000 genomes]
rs6870381	1.00[AMR][1000 genomes]
rs73771803	1.00[AMR][1000 genomes]
rs73771806	1.00[AMR][1000 genomes]
rs73771809	1.00[AMR][1000 genomes]
rs73771826	1.00[AMR][1000 genomes]
rs73771828	1.00[AMR][1000 genomes]
rs73771831	1.00[AMR][1000 genomes]
rs73771837	1.00[AMR][1000 genomes]
rs73771838	1.00[AMR][1000 genomes]
rs73771843	1.00[AMR][1000 genomes]
rs73773854	1.00[AMR][1000 genomes]
rs73773855	1.00[AMR][1000 genomes]
rs73780154	1.00[AMR][1000 genomes]
rs7705187	1.00[AMR][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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95195200-95217400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:95202800-95217200	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:95206600-95218800	Weak transcription	HSMM	muscle
4	chr5:95206800-95217400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:95207400-95218000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:95207400-95219000	Weak transcription	Psoas Muscle	Psoas
7	chr5:95208800-95217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:95210200-95220000	Weak transcription	Right Ventricle	heart
9	chr5:95210600-95221800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:95211000-95218400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:95212000-95216800	Enhancers	Liver	Liver
12	chr5:95212000-95224000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:95212400-95223800	Weak transcription	Brain Substantia Nigra	brain
14	chr5:95212600-95219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:95214000-95216200	Flanking Active TSS	HepG2	liver
17	chr5:95214000-95216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:95214000-95216600	Enhancers	Fetal Intestine Large	intestine
19	chr5:95214000-95219200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:95214200-95216200	Enhancers	Placenta	Placenta
21	chr5:95214200-95217800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:95214200-95218000	Enhancers	NHEK	skin
23	chr5:95214200-95219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:95214400-95216200	Weak transcription	Colonic Mucosa	Colon
25	chr5:95214400-95216400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:95214400-95216800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr5:95214400-95224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
29	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:95214600-95222000	Weak transcription	Left Ventricle	heart
32	chr5:95214600-95225000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:95214600-95230400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:95214800-95217600	Weak transcription	Right Atrium	heart
35	chr5:95214800-95217800	Weak transcription	Fetal Heart	heart
36	chr5:95214800-95219000	Weak transcription	K562	blood
37	chr5:95214800-95226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:95215000-95230200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:95215200-95223600	Weak transcription	A549	lung
40	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:95215400-95217600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:95215400-95219600	Weak transcription	Fetal Intestine Small	intestine
43	chr5:95215600-95217600	Weak transcription	Spleen	Spleen
44	chr5:95215600-95226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:95215600-95226000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:95215800-95216400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:95215800-95218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:95215800-95218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:95215800-95218800	Weak transcription	Esophagus	oesophagus
50	chr5:95215800-95218800	Weak transcription	Gastric	stomach

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