Variant report

Variant	rs548457108
Chromosome Location	chr6:33562509-33562510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33562509-33562559	Hela-S3	cervix:	n/a
2	chr6:33562509-33562559	HCPEpiC	choroid plexus:	n/a
3	chr6:33562509-33562559	LNCaP	prostate:	n/a
4	chr6:33562509-33562559	HCF	heart:	n/a
5	chr6:33562509-33562559	Hepatocyte	liver:	n/a
6	chr6:33562509-33562559	U87	brain:	n/a
7	chr6:33562509-33562559	HepG2	liver:	n/a
8	chr6:33562509-33562559	ECC-1	luminal epithelium:	n/a
9	chr6:33562509-33562559	BE2_C	brain:	n/a
10	chr6:33562509-33562559	GM19239	blood:	n/a
11	chr6:33562509-33562559	AG09309	skin:	n/a
12	chr6:33562509-33562559	HCT-116	colon:	n/a
13	chr6:33562509-33562559	A549	lung:	n/a
14	chr6:33562509-33562559	CMK	blood:	n/a
15	chr6:33562509-33562559	SK-N-SH_RA	brain:	n/a
16	chr6:33562509-33562559	PrEC	prostate:	n/a
17	chr6:33562509-33562559	NB4	blood:	n/a
18	chr6:33562509-33562559	IMR90	lung:	fetal
19	chr6:33562509-33562559	HMEC	breast:	n/a
20	chr6:33562509-33562559	NHBE	bronchial:	n/a
21	chr6:33562509-33562559	HCM	heart:	n/a
22	chr6:33562509-33562559	HUVEC	blood vessel:	n/a
23	chr6:33562509-33562559	Jurkat	blood:	n/a
24	chr6:33562509-33562559	HIPEpiC	eye:	n/a
25	chr6:33562509-33562559	AG10803	skin:	n/a
26	chr6:33562509-33562559	HEK293	kidney:	embryo
27	chr6:33562509-33562559	AG04450	lung:	fetal
28	chr6:33562509-33562559	SAEC	small airway:	n/a
29	chr6:33562509-33562559	H1-hESC	embryonic stem cell:	embryo
30	chr6:33562509-33562559	Caco-2	colon:	n/a
31	chr6:33562509-33562559	SK-N-MC	brain:	n/a
32	chr6:33562509-33562559	GM12878	blood:	n/a
33	chr6:33562509-33562559	NH-A	brain:	n/a
34	chr6:33562509-33562559	AoSMC	blood vessel:	n/a
35	chr6:33562509-33562559	SK-N-SH	brain:	n/a
36	chr6:33562509-33562559	GM06990	blood:	n/a
37	chr6:33562509-33562559	BJ	skin:	n/a
38	chr6:33562509-33562559	ovcar-3	ovarian:	n/a
39	chr6:33562509-33562559	PANC-1	pancreas:	n/a
40	chr6:33562509-33562559	MCF10A-Er-Src	breast:	n/a
41	chr6:33562509-33562559	T-47D	breast:	n/a
42	chr6:33562509-33562559	K562	blood:	n/a
43	chr6:33562509-33562559	HL-60	blood:	n/a
44	chr6:33562509-33562559	AG04449	skin:	fetal
45	chr6:33562509-33562559	HNPCEpiC	eye:	n/a
46	chr6:33562509-33562559	ProgFib	skin:	n/a
47	chr6:33562509-33562559	HRPEpiC	eye:	n/a
48	chr6:33562509-33562559	RPTEC	kidney:	n/a
49	chr6:33562509-33562559	NT2-D1	testis:	n/a
50	chr6:33562509-33562559	SKMC	muscle:	n/a

(count:5 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
LINC00336	CpG island
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:53 , 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	chr6:33559400-33562600	Weak transcription	A549	lung
4	chr6:33559400-33563000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:33559400-33567200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:33559600-33563000	Weak transcription	Hela-S3	cervix
7	chr6:33559600-33569800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:33559800-33562600	Weak transcription	HepG2	liver
9	chr6:33561200-33563000	Weak transcription	NHDF-Ad	bronchial
10	chr6:33561200-33567200	Weak transcription	Left Ventricle	heart
11	chr6:33561400-33562600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:33561400-33562600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:33561400-33562600	Weak transcription	Spleen	Spleen
14	chr6:33561400-33564800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:33561400-33564800	Weak transcription	HUVEC	blood vessel
16	chr6:33561400-33565000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:33561400-33565600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:33561400-33565600	Weak transcription	Right Ventricle	heart
19	chr6:33561400-33565600	Weak transcription	HMEC	breast
20	chr6:33561400-33567200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:33561400-33567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:33561400-33567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:33561400-33567200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:33561400-33567200	Weak transcription	Esophagus	oesophagus
25	chr6:33561400-33567200	Weak transcription	Gastric	stomach
26	chr6:33561400-33567200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:33561400-33567200	Weak transcription	NH-A	brain
28	chr6:33561600-33562600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:33561600-33563000	Weak transcription	NHEK	skin
30	chr6:33561600-33564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:33561600-33564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:33561600-33564200	Weak transcription	GM12878-XiMat	blood
33	chr6:33561600-33564600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:33561600-33564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:33561600-33564800	Weak transcription	Primary T cells from cord blood	blood
36	chr6:33561600-33564800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:33561600-33564800	Weak transcription	Fetal Thymus	thymus
38	chr6:33561600-33565000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:33561600-33565800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr6:33561600-33565800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr6:33561600-33565800	Weak transcription	Fetal Intestine Small	intestine
42	chr6:33561600-33567000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:33561600-33567200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:33561600-33567200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:33561600-33567400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:33561600-33567400	Weak transcription	NHLF	lung
47	chr6:33561600-33570400	Weak transcription	Fetal Intestine Large	intestine
48	chr6:33562000-33564200	Weak transcription	Primary B cells from cord blood	blood
49	chr6:33562000-33564400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:33562200-33562600	Weak transcription	Primary B cells from peripheral blood	blood

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