Variant report

Variant	rs147799535
Chromosome Location	chr6:150210488-150210489
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	MYC	chr6:150210456-150210800	MCF10A-Er-Src	breast:	n/a	n/a
2	SP1	chr6:150210443-150210924	A549	lung:	n/a	n/a
3	SP1	chr6:150210279-150210893	A549	lung:	n/a	n/a
4	FOS	chr6:150210466-150210809	MCF10A-Er-Src	breast:	n/a	n/a
5	BRCA1	chr6:150209949-150210829	Hela-S3	cervix:	n/a	n/a
6	EP300	chr6:150209881-150210907	Hela-S3	cervix:	n/a	chr6:150210177-150210191 chr6:150210207-150210214
7	TAF1	chr6:150210484-150210821	Hela-S3	cervix:	n/a	n/a
8	SMARCC1	chr6:150208250-150211123	Hela-S3	cervix:	n/a	chr6:150208765-150208774
9	POLR2A	chr6:150210381-150210871	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr6:150210290-150210927	A549	lung:	n/a	n/a
11	MAX	chr6:150209242-150210893	Hela-S3	cervix:	n/a	n/a
12	NFYB	chr6:150210431-150210819	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr6:150209916-150210828	Hela-S3	cervix:	n/a	chr6:150210314-150210326
14	CEBPB	chr6:150209208-150210929	Hela-S3	cervix:	n/a	chr6:150209470-150209481
15	POLR2A	chr6:150209339-150210780	MCF10A-Er-Src	breast:	n/a	n/a
16	USF2	chr6:150209204-150210912	Hela-S3	cervix:	n/a	chr6:150209928-150209939
17	POLR2A	chr6:150210374-150210854	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:150208138-150210950	Hela-S3	cervix:	n/a	n/a
19	TFAP2C	chr6:150209215-150210815	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr6:150209905-150210827	MCF10A-Er-Src	breast:	n/a	chr6:150210314-150210326
21	CEBPB	chr6:150210475-150210841	A549	lung:	n/a	n/a
22	ELK1	chr6:150210296-150210901	Hela-S3	cervix:	n/a	n/a
23	ZKSCAN1	chr6:150210050-150210871	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr6:150210475-150210784	MCF10A-Er-Src	breast:	n/a	n/a
25	MAZ	chr6:150209939-150210884	Hela-S3	cervix:	n/a	n/a
26	RFX5	chr6:150209898-150210832	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:150208350-150212272	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr6:150209928-150210882	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr6:150209922-150211116	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr6:150210480-150210873	Hela-S3	cervix:	n/a	n/a
31	NFYA	chr6:150210261-150211004	Hela-S3	cervix:	n/a	n/a
32	MXI1	chr6:150209237-150211154	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr6:150208398-150212270	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr6:150210448-150210825	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr6:150209835-150211059	Hela-S3	cervix:	n/a	n/a
36	CREB1	chr6:150210445-150210743	A549	lung:	n/a	n/a
37	FOS	chr6:150210454-150210765	MCF10A-Er-Src	breast:	n/a	n/a
38	MAFK	chr6:150210022-150210862	Hela-S3	cervix:	n/a	n/a
39	EP300	chr6:150210297-150210897	A549	lung:	n/a	n/a
40	TCF7L2	chr6:150208360-150211113	Hela-S3	cervix:	n/a	n/a
41	FOXA2	chr6:150210469-150210980	A549	lung:	n/a	n/a
42	SMC3	chr6:150209264-150210884	Hela-S3	cervix:	n/a	n/a
43	TBP	chr6:150209194-150210904	Hela-S3	cervix:	n/a	n/a
44	GTF2F1	chr6:150209210-150210886	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:150182126..150186554-chr6:150208101..150210542,3	K562	blood:
2	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
3	chr6:150208190..150211087-chr6:150219720..150221224,2	MCF-7	breast:
4	chr6:150182396..150187721-chr6:150207302..150210632,6	MCF-7	breast:
5	chr6:150200712..150203416-chr6:150207860..150210756,3	MCF-7	breast:

Variant related genes	Relation type
RAET1E-AS1	TF binding region
ENSG00000268592	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000217733	Chromatin interaction

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	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150205600-150216000	Weak transcription	Right Atrium	heart
2	chr6:150205800-150216000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:150206000-150216000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:150206600-150211600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:150207800-150210600	Enhancers	NHDF-Ad	bronchial
6	chr6:150208000-150210600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:150208000-150210600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:150208000-150210800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:150208000-150211800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:150208200-150210600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:150208200-150210600	Enhancers	Fetal Intestine Large	intestine
12	chr6:150208400-150211400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:150208400-150211600	Weak transcription	Placenta	Placenta
14	chr6:150208400-150212600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:150208400-150212600	Flanking Active TSS	Hela-S3	cervix
16	chr6:150208600-150211400	Enhancers	HSMMtube	muscle
17	chr6:150209200-150212200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:150209200-150212800	Enhancers	A549	lung
19	chr6:150209400-150211000	Enhancers	Psoas Muscle	Psoas
20	chr6:150209600-150215800	Weak transcription	Adipose Nuclei	Adipose
21	chr6:150209600-150216000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:150209600-150222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:150210000-150211600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:150210200-150210600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:150210200-150211400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:150210200-150211800	Weak transcription	Esophagus	oesophagus
27	chr6:150210400-150210800	Genic enhancers	HMEC	breast
28	chr6:150210400-150211400	Weak transcription	HSMM	muscle
29	chr6:150210400-150211400	Genic enhancers	NHEK	skin
30	chr6:150210400-150211600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:150210400-150211600	Weak transcription	Osteobl	bone
32	chr6:150210400-150211800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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