Variant report

Variant	rs7172988
Chromosome Location	chr15:39187185-39187186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39187046..39189183-chr15:39189684..39192597,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11852439	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11852946	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592794	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1897737	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2411220	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34053185	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046994	chr15:38806163-39239014	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking 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	15 gene(s)	inside rSNPs	diseases
2	nsv832975	chr15:39011915-39227590	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1054810	chr15:39019900-39578526	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv542359	chr15:39019900-39578526	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040746	chr15:39126735-39327690	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv904090	chr15:39138908-39347192	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv457117	chr15:39183430-39380526	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv569207	chr15:39183430-39380526	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv569208	chr15:39183430-39385921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr15:39176200-39197600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr15:39179200-39187200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:39182000-39188400	Weak transcription	Placenta	Placenta
4	chr15:39185000-39187400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:39185000-39187400	Enhancers	Ovary	ovary
6	chr15:39185000-39189200	Enhancers	HSMM	muscle
7	chr15:39185000-39189800	Enhancers	HUVEC	blood vessel
8	chr15:39185000-39189800	Enhancers	NHDF-Ad	bronchial
9	chr15:39185000-39192000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr15:39185200-39187200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:39185200-39188200	Enhancers	Fetal Kidney	kidney
12	chr15:39185200-39189600	Enhancers	Osteobl	bone
13	chr15:39185200-39192800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:39185400-39187400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:39185400-39187800	Enhancers	Fetal Intestine Large	intestine
16	chr15:39185400-39188800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:39185400-39190000	Enhancers	HSMMtube	muscle
18	chr15:39185400-39190200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:39185400-39191200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:39185600-39187600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:39185600-39187800	Enhancers	Fetal Intestine Small	intestine
22	chr15:39185800-39187200	Enhancers	Colon Smooth Muscle	Colon
23	chr15:39185800-39187200	Enhancers	Fetal Stomach	stomach
24	chr15:39185800-39187800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:39185800-39188000	Enhancers	Fetal Lung	lung
26	chr15:39185800-39188800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:39185800-39188800	Enhancers	Fetal Heart	heart
28	chr15:39185800-39188800	Enhancers	HMEC	breast
29	chr15:39186000-39188400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:39186200-39188000	Flanking Active TSS	A549	lung
31	chr15:39186200-39188800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:39186400-39187200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr15:39186400-39187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:39186400-39188400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:39186400-39188600	Enhancers	NHEK	skin
36	chr15:39186600-39187400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:39186600-39189200	Enhancers	Hela-S3	cervix
38	chr15:39186600-39189200	Enhancers	NH-A	brain
39	chr15:39186800-39187200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr15:39186800-39187800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:39186800-39188800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:39187000-39187200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:39187000-39187800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:39187000-39189000	Enhancers	NHLF	lung

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