Variant report

Variant	rs149262020
Chromosome Location	chr6:142621415-142621416
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	POLR2A	chr6:142621261-142624876	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr6:142621379-142624744	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr6:142621374-142624737	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr6:142621394-142621501	MCF-7	breast:	n/a	n/a
5	MAX	chr6:142621389-142624658	A549	lung:	n/a	chr6:142622591-142622601
6	POLR2A	chr6:142620820-142625014	PANC-1	pancreas:	n/a	n/a
7	FOS	chr6:142621404-142622372	MCF10A-Er-Src	breast:	n/a	n/a
8	HEY1	chr6:142621377-142624744	HepG2	liver:	n/a	chr6:142622910-142622925
9	SETDB1	chr6:142621410-142621913	U2OS	brain:	n/a	n/a
10	POLR2A	chr6:142621415-142624753	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142616863..142618821-chr6:142620050..142622053,2	K562	blood:
2	chr6:142619918..142621591-chr6:142650811..142653503,2	MCF-7	breast:

Variant related genes	Relation type
GPR126	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv275340	chr6:142620405-142624568	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142616400-142621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:142618200-142621800	Enhancers	HMEC	breast
3	chr6:142618400-142621600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:142618400-142621600	Enhancers	NHEK	skin
5	chr6:142618600-142621800	Weak transcription	Stomach Mucosa	stomach
6	chr6:142618800-142621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:142618800-142622000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:142619200-142622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:142619400-142621800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:142619400-142622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:142619400-142622000	Enhancers	Placenta	Placenta
12	chr6:142619600-142621600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:142619600-142621600	Weak transcription	Fetal Lung	lung
14	chr6:142619600-142622200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:142619600-142622200	Weak transcription	NHDF-Ad	bronchial
16	chr6:142619800-142621600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:142619800-142621800	Weak transcription	Fetal Heart	heart
18	chr6:142619800-142622000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:142619800-142622000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:142619800-142622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:142619800-142622000	Weak transcription	NH-A	brain
22	chr6:142620000-142621800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:142620000-142621800	Weak transcription	Osteobl	bone
24	chr6:142620000-142622000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:142620000-142622200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:142620400-142621600	Enhancers	HepG2	liver
27	chr6:142620400-142621800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:142620400-142621800	Weak transcription	NHLF	lung
29	chr6:142620400-142622000	Weak transcription	HSMMtube	muscle
30	chr6:142620400-142622200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:142620600-142621800	Weak transcription	HSMM	muscle
32	chr6:142620600-142622200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:142621200-142621600	Enhancers	Liver	Liver
34	chr6:142621200-142621600	Enhancers	A549	lung
35	chr6:142621400-142621600	Enhancers	HUVEC	blood vessel
36	chr6:142621400-142621800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:142621400-142622000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:142621400-142622000	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:142621400-142622400	Flanking Active TSS	Hela-S3	cervix

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