Variant report

Variant	rs538962992
Chromosome Location	chr6:11769502-11769503
allele	C/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	CEBPB	chr6:11769323-11769512	IMR90	lung:	n/a	n/a
2	MYC	chr6:11769305-11769829	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:11769427-11769769	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr6:11769468-11769747	MCF10A-Er-Src	breast:	n/a	chr6:11769662-11769670
5	POLR2A	chr6:11769345-11769882	IMR90	lung:	n/a	n/a
6	POLR2A	chr6:11768296-11772928	HUVEC	blood vessel:	n/a	n/a
7	CEBPB	chr6:11769343-11769587	K562	blood:	n/a	n/a
8	FOS	chr6:11769476-11769853	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:11768795-11769860	HUVEC	blood vessel:	n/a	n/a
10	MYC	chr6:11769411-11769875	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:11769228-11773136	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:
2	chr6:11767330..11770016-chr6:11806756..11808382,2	MCF-7	breast:
3	chr6:11766943..11769804-chr6:12011580..12013984,2	MCF-7	breast:

Variant related genes	Relation type
ADTRP	TF binding region
ENSG00000095951	Chromatin interaction
ENSG00000111863	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv522039	chr6:11769280-11771259	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11759400-11769600	Weak transcription	Lung	lung
2	chr6:11760600-11770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:11762600-11770600	Weak transcription	Spleen	Spleen
4	chr6:11763200-11773400	Enhancers	HUVEC	blood vessel
5	chr6:11764400-11770600	Weak transcription	Esophagus	oesophagus
6	chr6:11764400-11770600	Weak transcription	Left Ventricle	heart
7	chr6:11764400-11770600	Weak transcription	Right Atrium	heart
8	chr6:11764800-11769600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:11764800-11769600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:11765000-11770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:11765800-11770200	Enhancers	Hela-S3	cervix
12	chr6:11765800-11770600	Enhancers	HSMM	muscle
13	chr6:11765800-11770600	Enhancers	Osteobl	bone
14	chr6:11765800-11773000	Enhancers	NH-A	brain
15	chr6:11765800-11773600	Enhancers	NHDF-Ad	bronchial
16	chr6:11765800-11773600	Enhancers	NHLF	lung
17	chr6:11766000-11770800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:11766200-11770800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:11766400-11769800	Enhancers	Gastric	stomach
20	chr6:11766600-11770800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:11766800-11770600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:11766800-11771800	Enhancers	Fetal Intestine Small	intestine
23	chr6:11766800-11773000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:11767000-11771800	Enhancers	Stomach Mucosa	stomach
25	chr6:11767200-11769600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:11767200-11770600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:11767200-11770800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:11767400-11770400	Weak transcription	Adipose Nuclei	Adipose
29	chr6:11767400-11770600	Weak transcription	Fetal Lung	lung
30	chr6:11767600-11770400	Weak transcription	Pancreas	Pancrea
31	chr6:11767600-11771000	Enhancers	HSMMtube	muscle
32	chr6:11767600-11771200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:11767800-11770200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:11767800-11770400	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:11767800-11770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:11768000-11769600	Weak transcription	A549	lung
37	chr6:11768000-11769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:11768000-11770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:11768000-11770000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:11768000-11770200	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:11768000-11770400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:11768000-11770400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:11768000-11770600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:11768200-11770200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:11768400-11770800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:11768400-11771000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:11768400-11772000	Enhancers	Fetal Intestine Large	intestine
48	chr6:11768600-11770600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:11768600-11771400	Weak transcription	Aorta	Aorta
50	chr6:11768600-11774200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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