Variant report

Variant	rs375048017
Chromosome Location	chr15:62354837-62354838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:62354632-62354841	HepG2	liver:	n/a	n/a
2	MAFK	chr15:62354566-62354877	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:62353762..62355861-chr15:62356925..62359258,2	MCF-7	breast:
2	chr15:62352901..62356622-chr15:62357854..62362137,6	K562	blood:

Variant related genes	Relation type
VPS13C	TF binding region
C2CD4A	TF binding region
ENSG00000198535	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904288	chr15:62146598-62356386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv904290	chr15:62175134-62356386	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv904294	chr15:62178695-62356386	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv457176	chr15:62178695-62519658	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv569643	chr15:62178695-62519658	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv471247	chr15:62202481-62519658	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv569646	chr15:62202482-62519658	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1044748	chr15:62276183-62521856	Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv542405	chr15:62276183-62521856	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv457178	chr15:62340126-62394324	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv569652	chr15:62340126-62394324	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv1560	chr15:62354264-62399304	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62353400-62355200	Weak transcription	Hela-S3	cervix
2	chr15:62353400-62355600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:62353400-62355600	Weak transcription	Gastric	stomach
4	chr15:62353400-62355600	Weak transcription	Pancreas	Pancrea
5	chr15:62353400-62355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:62353400-62355800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:62353400-62356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:62353400-62358800	Weak transcription	Placenta	Placenta
9	chr15:62353400-62358800	Weak transcription	Psoas Muscle	Psoas
10	chr15:62353400-62358800	Weak transcription	Stomach Mucosa	stomach
11	chr15:62353400-62359000	Weak transcription	Lung	lung
12	chr15:62353600-62355400	Weak transcription	HMEC	breast
13	chr15:62353600-62355400	Weak transcription	NHEK	skin
14	chr15:62353600-62355600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:62353600-62355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:62353600-62356400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:62353600-62356400	Weak transcription	K562	blood
18	chr15:62353600-62358400	Weak transcription	Aorta	Aorta
19	chr15:62353600-62358600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:62353600-62358800	Weak transcription	Liver	Liver
21	chr15:62353600-62358800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:62353600-62358800	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:62353600-62358800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:62353800-62358800	Weak transcription	Adipose Nuclei	Adipose
25	chr15:62354000-62358600	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:62354000-62358800	Weak transcription	Brain Angular Gyrus	brain
27	chr15:62354200-62358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr15:62354200-62358800	Weak transcription	Brain Anterior Caudate	brain
29	chr15:62354400-62355600	Weak transcription	Fetal Intestine Small	intestine
30	chr15:62354400-62358600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:62354400-62358600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:62354600-62355600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:62354600-62356000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:62354800-62356000	Enhancers	Pancreatic Islets	Pancreatic Islet

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