Variant report

Variant	rs62076502
Chromosome Location	chr17:45463842-45463843
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	chr17:45463722..45466707-chr17:45470914..45473396,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11652957	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11654217	0.90[EUR][1000 genomes]
rs55883342	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62076536	0.84[EUR][1000 genomes]
rs72825637	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1818362	chr17:45419139-45499396	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv908564	chr17:45422628-45522311	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1801088	chr17:45435575-45522311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1056191	chr17:45442007-45519072	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1061628	chr17:45444530-45491469	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv543379	chr17:45444530-45491469	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv908565	chr17:45446158-45494645	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1815649	chr17:45451894-45473107	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
2	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
3	chr17:45423000-45465400	Weak transcription	Adipose Nuclei	Adipose
4	chr17:45450800-45470400	Weak transcription	Liver	Liver
5	chr17:45451000-45464600	Weak transcription	Primary B cells from cord blood	blood
6	chr17:45460600-45467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:45460800-45466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:45461400-45466800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:45461400-45500400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr17:45461600-45475200	Weak transcription	Colon Smooth Muscle	Colon
11	chr17:45461600-45500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:45461600-45500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:45462000-45465000	Weak transcription	Primary T cells from cord blood	blood
14	chr17:45462400-45464800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:45462600-45464800	Weak transcription	Fetal Intestine Large	intestine
16	chr17:45462600-45468000	Weak transcription	Fetal Muscle Leg	muscle
17	chr17:45462800-45465600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr17:45463000-45464200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr17:45463000-45466000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:45463200-45464000	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr17:45463200-45464000	Strong transcription	Lung	lung
22	chr17:45463200-45464400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:45463200-45464600	ZNF genes & repeats	Fetal Stomach	stomach
24	chr17:45463200-45465800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:45463200-45465800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr17:45463200-45466800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:45463400-45464000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:45463400-45464000	Strong transcription	Gastric	stomach
29	chr17:45463400-45466400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:45463400-45467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:45463600-45465200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr17:45463600-45470000	Weak transcription	Spleen	Spleen
33	chr17:45463600-45473400	Weak transcription	Fetal Brain Male	brain
34	chr17:45463800-45464000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:45463800-45464400	Strong transcription	Ovary	ovary
36	chr17:45463800-45468200	Weak transcription	HepG2	liver
37	chr17:45463800-45468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:45463800-45477800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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