Variant report

Variant	rs572247750
Chromosome Location	chr6:49431791-49431792
allele	G/T
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	SIN3A	chr6:49430267-49432021	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF1	chr6:49431748-49431797	K562	blood:	n/a	n/a
3	POLR2A	chr6:49430177-49432089	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:49430132-49431947	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:49431658-49431849	MCF10A-Er-Src	breast:	n/a	n/a
6	GABPA	chr6:49430316-49431849	MCF-7	breast:	n/a	chr6:49431064-49431071
7	CUX1	chr6:49430955-49431847	K562	blood:	n/a	n/a
8	POLR2A	chr6:49429792-49431845	MCF10A-Er-Src	breast:	n/a	n/a
9	WRNIP1	chr6:49430380-49431798	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:49429891-49432113	Hela-S3	cervix:	n/a	n/a
11	CHD1	chr6:49431112-49431905	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F4	chr6:49430391-49432209	MCF10A-Er-Src	breast:	n/a	chr6:49431113-49431124 chr6:49431112-49431123 chr6:49431109-49431126 chr6:49430905-49430917 chr6:49431109-49431126
13	POLR2A	chr6:49430399-49431827	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:49429738-49431811	GM12891	blood:	n/a	n/a
15	MXI1	chr6:49429538-49431842	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:49429949..49432434-chr6:49603239..49605832,3	K562	blood:
2	chr6:49431483..49432991-chr6:49522409..49524636,2	MCF-7	breast:
3	chr6:20401677..20404627-chr6:49430582..49432502,2	K562	blood:
4	chr6:49431721..49433516-chr6:49458650..49460317,2	K562	blood:
5	chr6:49431208..49433199-chr6:49629940..49632995,3	K562	blood:
6	chr6:49429390..49432411-chr6:49516710..49519961,3	MCF-7	breast:

Variant related genes	Relation type
MUT	TF binding region
ENSG00000112242	Chromatin interaction
ENSG00000197261	Chromatin interaction
ENSG00000112077	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv603081	chr6:49421241-49446233	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv603082	chr6:49421241-49446509	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv603083	chr6:49429706-49446233	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv603084	chr6:49429706-49446509	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv603085	chr6:49429706-49450341	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv441996	chr6:49431565-49447295	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv603086	chr6:49431569-49440363	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv603087	chr6:49431569-49441062	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv603088	chr6:49431569-49446504	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv603089	chr6:49431569-49446509	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv2763934	chr6:49431569-49447295	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv603090	chr6:49431569-49447295	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv1019611	chr6:49431569-49470663	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49429000-49434200	Active TSS	GM12878-XiMat	blood
2	chr6:49429200-49432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:49429400-49432000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:49429400-49432000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:49429400-49432200	Active TSS	Ovary	ovary
6	chr6:49429400-49432200	Active TSS	Right Atrium	heart
7	chr6:49429600-49431800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:49429600-49431800	Active TSS	Psoas Muscle	Psoas
9	chr6:49429600-49431800	Active TSS	Right Ventricle	heart
10	chr6:49429600-49432000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:49429600-49432000	Active TSS	Colonic Mucosa	Colon
12	chr6:49429600-49432000	Active TSS	NHDF-Ad	bronchial
13	chr6:49429600-49432200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:49429600-49432200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:49429600-49432200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:49429600-49432200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:49429600-49432200	Active TSS	Fetal Kidney	kidney
18	chr6:49429600-49432200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr6:49429600-49432200	Active TSS	NHLF	lung
20	chr6:49429800-49431800	Active TSS	Left Ventricle	heart
21	chr6:49429800-49432000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:49429800-49432000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr6:49429800-49432000	Active TSS	HSMMtube	muscle
24	chr6:49429800-49432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:49430000-49431800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:49430000-49431800	Active TSS	Fetal Intestine Large	intestine
27	chr6:49430000-49432000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:49430000-49432000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:49430000-49432000	Active TSS	Fetal Muscle Trunk	muscle
30	chr6:49430000-49432000	Active TSS	Fetal Thymus	thymus
31	chr6:49430000-49432200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:49430000-49432200	Active TSS	Fetal Lung	lung
33	chr6:49430000-49432200	Active TSS	A549	lung
34	chr6:49430000-49432400	Active TSS	K562	blood
35	chr6:49430000-49432600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:49430000-49432600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:49430200-49431800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:49430200-49431800	Active TSS	Fetal Heart	heart
39	chr6:49430200-49431800	Bivalent/Poised TSS	HepG2	liver
40	chr6:49430200-49432000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:49430200-49432000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:49430200-49432000	Active TSS	Brain Germinal Matrix	brain
43	chr6:49430200-49432000	Active TSS	HSMM	muscle
44	chr6:49430200-49432000	Active TSS	NHEK	skin
45	chr6:49430200-49432200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:49430200-49432200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr6:49430200-49432200	Active TSS	NH-A	brain
48	chr6:49430200-49432400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:49430200-49432400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:49430200-49432800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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