Variant report

Variant	rs8037769
Chromosome Location	chr15:39870687-39870688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:39870574-39892778	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr15:39870584-39871471	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:39870622-39870834	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr15:39870624-39892458	HUVEC	blood vessel:	n/a	n/a
5	MXI1	chr15:39870632-39876677	IMR90	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39869407..39871427-chr15:39874178..39876262,2	K562	blood:
2	chr15:39869319..39871177-chr15:39871544..39874678,3	MCF-7	breast:
3	chr15:39867115..39869175-chr15:39869428..39872036,2	MCF-7	breast:
4	chr15:39869641..39872520-chr15:39877889..39880142,2	K562	blood:

No data

Variant related genes	Relation type
THBS1	TF binding region
ENSG00000137801	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16969307	1.00[AMR][1000 genomes]
rs16969364	1.00[AMR][1000 genomes]
rs16969365	1.00[AMR][1000 genomes]
rs35248254	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41406047	1.00[AMR][1000 genomes]
rs7163020	1.00[AMR][1000 genomes]
rs8029417	1.00[AMR][1000 genomes]
rs8031289	1.00[AMR][1000 genomes]
rs8033803	1.00[AMR][1000 genomes]
rs8035627	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39851000-39871800	Weak transcription	Pancreas	Pancrea
2	chr15:39854400-39870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:39863600-39871200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:39865800-39871200	Weak transcription	Esophagus	oesophagus
5	chr15:39866000-39871000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:39866000-39871200	Weak transcription	Adipose Nuclei	Adipose
7	chr15:39866400-39870800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:39866400-39870800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:39866600-39870800	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:39866800-39871200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:39867400-39870800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:39867600-39871000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:39869600-39871200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:39869600-39871400	Enhancers	HSMM	muscle
15	chr15:39870000-39871600	Enhancers	Fetal Lung	lung
16	chr15:39870400-39871200	Enhancers	HUVEC	blood vessel
17	chr15:39870400-39871600	Enhancers	Fetal Stomach	stomach
18	chr15:39870600-39870800	Enhancers	NHLF	lung
19	chr15:39870600-39871200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr15:39870600-39871200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:39870600-39871200	Enhancers	NHDF-Ad	bronchial
22	chr15:39870600-39871200	Enhancers	Osteobl	bone
23	chr15:39870600-39871400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr15:39870600-39871400	Enhancers	HSMMtube	muscle
25	chr15:39870600-39871400	Enhancers	NHEK	skin
26	chr15:39870600-39871600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr15:39870600-39871600	Enhancers	Fetal Kidney	kidney
28	chr15:39870600-39871600	Enhancers	HMEC	breast
29	chr15:39870600-39872000	Enhancers	Fetal Heart	heart

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