Variant report

Variant	rs540718505
Chromosome Location	chr6:33562871-33562872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33556084..33559190-chr6:33561463..33564085,3	K562	blood:
2	chr6:33561930..33564001-chr6:33577360..33579939,2	K562	blood:
3	chr6:33561576..33563352-chr6:33589353..33591952,2	K562	blood:
4	chr6:33555432..33562879-chr6:33670455..33680174,12	K562	blood:
5	chr6:33562478..33565325-chr6:33572841..33575005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	esv992246	chr6:33561708-33570974	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33558600-33567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:33559000-33567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:33559400-33563000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:33559400-33567200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:33559600-33563000	Weak transcription	Hela-S3	cervix
6	chr6:33559600-33569800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:33561200-33563000	Weak transcription	NHDF-Ad	bronchial
8	chr6:33561200-33567200	Weak transcription	Left Ventricle	heart
9	chr6:33561400-33564800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:33561400-33564800	Weak transcription	HUVEC	blood vessel
11	chr6:33561400-33565000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:33561400-33565600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:33561400-33565600	Weak transcription	Right Ventricle	heart
14	chr6:33561400-33565600	Weak transcription	HMEC	breast
15	chr6:33561400-33567200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:33561400-33567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:33561400-33567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:33561400-33567200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:33561400-33567200	Weak transcription	Esophagus	oesophagus
20	chr6:33561400-33567200	Weak transcription	Gastric	stomach
21	chr6:33561400-33567200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:33561400-33567200	Weak transcription	NH-A	brain
23	chr6:33561600-33563000	Weak transcription	NHEK	skin
24	chr6:33561600-33564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:33561600-33564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:33561600-33564200	Weak transcription	GM12878-XiMat	blood
27	chr6:33561600-33564600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:33561600-33564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:33561600-33564800	Weak transcription	Primary T cells from cord blood	blood
30	chr6:33561600-33564800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:33561600-33564800	Weak transcription	Fetal Thymus	thymus
32	chr6:33561600-33565000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:33561600-33565800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:33561600-33565800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:33561600-33565800	Weak transcription	Fetal Intestine Small	intestine
36	chr6:33561600-33567000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:33561600-33567200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:33561600-33567200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:33561600-33567400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:33561600-33567400	Weak transcription	NHLF	lung
41	chr6:33561600-33570400	Weak transcription	Fetal Intestine Large	intestine
42	chr6:33562000-33564200	Weak transcription	Primary B cells from cord blood	blood
43	chr6:33562000-33564400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr6:33562200-33563400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:33562400-33563400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:33562600-33563200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:33562600-33563200	Enhancers	Spleen	Spleen
48	chr6:33562600-33563400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:33562600-33563400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:33562600-33563400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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