Variant report

Variant	rs62002740
Chromosome Location	chr15:59623071-59623072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11854485	0.92[ASN][1000 genomes]
rs34395963	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7162847	0.92[ASN][1000 genomes]
rs7163858	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7164264	0.92[ASN][1000 genomes]
rs7169866	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv457175	chr15:59609753-59681214	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv569603	chr15:59609753-59681214	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv471246	chr15:59610743-59681214	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1794268	chr15:59614874-59637355	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59600000-59627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:59606800-59631600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:59608600-59623200	Weak transcription	Psoas Muscle	Psoas
4	chr15:59608600-59623400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:59608600-59625800	Weak transcription	HMEC	breast
6	chr15:59610200-59627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:59612200-59625800	Weak transcription	HUVEC	blood vessel
8	chr15:59613800-59626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:59616400-59624600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:59617600-59624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:59618200-59624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:59618200-59626800	Weak transcription	Brain Angular Gyrus	brain
13	chr15:59619000-59626200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:59619000-59626400	Enhancers	Primary B cells from peripheral blood	blood
15	chr15:59619200-59623800	Enhancers	Liver	Liver
16	chr15:59619600-59624600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:59619800-59624000	Enhancers	HepG2	liver
18	chr15:59620000-59623800	Enhancers	Fetal Intestine Large	intestine
19	chr15:59620400-59623200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:59620400-59623400	Enhancers	HSMM	muscle
21	chr15:59620400-59624200	Enhancers	Stomach Mucosa	stomach
22	chr15:59620400-59624600	Enhancers	NHDF-Ad	bronchial
23	chr15:59620400-59625000	Enhancers	Fetal Intestine Small	intestine
24	chr15:59620600-59623400	Strong transcription	Hela-S3	cervix
25	chr15:59620600-59623600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:59620600-59625000	Weak transcription	Spleen	Spleen
27	chr15:59620800-59623400	Enhancers	NH-A	brain
28	chr15:59620800-59625400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr15:59621000-59623600	Enhancers	HSMMtube	muscle
30	chr15:59621200-59623600	Enhancers	Fetal Kidney	kidney
31	chr15:59621200-59626800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:59621200-59627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:59621400-59623400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:59621400-59623400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr15:59621400-59624800	Enhancers	Duodenum Mucosa	Duodenum
36	chr15:59621400-59624800	Flanking Active TSS	A549	lung
37	chr15:59621400-59625800	Weak transcription	NHEK	skin
38	chr15:59621600-59623200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:59621600-59623200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:59621600-59626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:59621800-59624200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:59621800-59624200	Weak transcription	Brain Substantia Nigra	brain
43	chr15:59622000-59624200	Enhancers	Osteobl	bone
44	chr15:59622000-59625600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:59622000-59625600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr15:59622000-59627400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr15:59622200-59623800	Enhancers	Colonic Mucosa	Colon
48	chr15:59622200-59625000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr15:59622200-59627400	Weak transcription	Fetal Heart	heart
50	chr15:59622400-59623200	Enhancers	Right Ventricle	heart

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