Variant report

Variant	rs377104913
Chromosome Location	chr1:47082195-47082196
allele	C/G
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	ELF1	chr1:47081908-47082202	K562	blood:	n/a	n/a
2	PAX5	chr1:47081838-47082561	GM12878	blood:	n/a	n/a
3	RCOR1	chr1:47081533-47083316	K562	blood:	n/a	n/a
4	IRF1	chr1:47081912-47082794	K562	blood:	n/a	chr1:47082317-47082331 chr1:47082316-47082327 chr1:47082315-47082329
5	POLR2A	chr1:47082191-47082560	HepG2	liver:	n/a	n/a
6	YY1	chr1:47082173-47082639	GM12892	blood:	n/a	chr1:47082340-47082354
7	CEBPD	chr1:47082181-47082773	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:47082194-47082843	HepG2	liver:	n/a	n/a
9	NR2F2	chr1:47082116-47082719	MCF-7	breast:	n/a	n/a
10	E2F6	chr1:47082013-47082644	H1-hESC	embryonic stem cell:	n/a	chr1:47082336-47082345
11	POLR2A	chr1:47081652-47082834	K562	blood:	n/a	n/a
12	TAF1	chr1:47082174-47082853	PFSK-1	brain:	n/a	n/a
13	TAF1	chr1:47082177-47082694	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:47081962-47082792	MCF-7	breast:	n/a	n/a
15	RCOR1	chr1:47080951-47083959	IMR90	lung:	n/a	n/a
16	POLR2A	chr1:47081453-47083127	Hela-S3	cervix:	n/a	n/a
17	BCLAF1	chr1:47082163-47082843	GM12878	blood:	n/a	n/a
18	MYC	chr1:47081991-47082859	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr1:47081928-47082984	K562	blood:	n/a	n/a
20	POLR2A	chr1:47081887-47082904	GM18526	blood:	n/a	n/a
21	CBX3	chr1:47081882-47082932	K562	blood:	n/a	n/a
22	POLR2A	chr1:47082174-47082825	GM12878	blood:	n/a	n/a
23	HMGN3	chr1:47081930-47082688	K562	blood:	n/a	n/a
24	RCOR1	chr1:47081949-47082865	GM12878	blood:	n/a	n/a
25	STAT1	chr1:47081878-47082815	GM12878	blood:	n/a	chr1:47082628-47082637 chr1:47082315-47082326 chr1:47082623-47082643 chr1:47082629-47082638 chr1:47082629-47082637
26	SMARCB1	chr1:47081719-47082955	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:47082161-47082771	Hela-S3	cervix:	n/a	n/a
28	MAX	chr1:47082021-47082894	HepG2	liver:	n/a	n/a
29	ZBTB7A	chr1:47081864-47082758	K562	blood:	n/a	n/a
30	POLR2A	chr1:47082171-47082613	GM12892	blood:	n/a	n/a
31	IRF1	chr1:47081961-47082819	K562	blood:	n/a	chr1:47082317-47082331 chr1:47082316-47082327 chr1:47082315-47082329
32	SRF	chr1:47081807-47083153	HCT-116	colon:	n/a	n/a
33	ZNF143	chr1:47081941-47082842	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr1:47082177-47082738	PANC-1	pancreas:	n/a	n/a
35	ATF3	chr1:47082190-47082462	K562	blood:	n/a	n/a
36	ZBTB7A	chr1:47081858-47082896	ECC-1	luminal epithelium:	n/a	n/a
37	ELK1	chr1:47081418-47082916	GM12878	blood:	n/a	n/a
38	HCFC1	chr1:47081966-47083038	K562	blood:	n/a	n/a
39	ELF1	chr1:47081404-47082893	GM12878	blood:	n/a	n/a
40	TCF12	chr1:47082126-47083107	ECC-1	luminal epithelium:	n/a	chr1:47082654-47082664
41	FOSL1	chr1:47081896-47082303	H1-hESC	embryonic stem cell:	n/a	n/a
42	EGR1	chr1:47081711-47082338	ECC-1	luminal epithelium:	n/a	chr1:47082045-47082059 chr1:47082049-47082058 chr1:47082049-47082060
43	POLR2A	chr1:47082098-47082968	U87	brain:	n/a	n/a
44	POLR2A	chr1:47082148-47082833	PFSK-1	brain:	n/a	n/a
45	SP1	chr1:47081890-47082311	A549	lung:	n/a	chr1:47082153-47082163 chr1:47082153-47082163 chr1:47082167-47082176 chr1:47082160-47082174 chr1:47082165-47082177 chr1:47082052-47082062
46	POLR2A	chr1:47081085-47082992	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:47082189-47082932	HCT-116	colon:	n/a	n/a
48	ETS1	chr1:47081977-47082656	K562	blood:	n/a	n/a
49	MAX	chr1:47082066-47082743	MCF-7	breast:	n/a	n/a
50	CHD2	chr1:47081354-47082855	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47079661..47082285-chr1:47135813..47137705,2	K562	blood:
2	chr1:47069390..47072755-chr1:47079314..47082367,4	MCF-7	breast:
3	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
4	chr1:47080724..47082396-chr1:47183672..47185631,2	MCF-7	breast:
5	chr1:47078421..47080865-chr1:47080975..47083544,2	MCF-7	breast:

Variant related genes	Relation type
MOB3C	TF binding region
ENSG00000186118	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000079277	Chromatin interaction
ENSG00000142961	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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv522319	chr1:47080741-47094267	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47080200-47082200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:47080600-47082400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:47081000-47082200	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr1:47081000-47082200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:47081200-47082200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:47081200-47083000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:47081400-47082200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:47081400-47082800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:47081400-47083000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:47081600-47082200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:47081600-47082600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:47081600-47082800	Active TSS	Colon Smooth Muscle	Colon
13	chr1:47081600-47082800	Active TSS	Gastric	stomach
14	chr1:47081600-47083000	Active TSS	Aorta	Aorta
15	chr1:47081600-47083000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:47081600-47083000	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr1:47081600-47083000	Active TSS	Ovary	ovary
18	chr1:47081600-47083000	Active TSS	NHDF-Ad	bronchial
19	chr1:47081800-47082200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:47081800-47082200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:47081800-47082400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
22	chr1:47081800-47082400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:47081800-47082400	Active TSS	Right Atrium	heart
24	chr1:47081800-47082600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:47081800-47082600	Active TSS	GM12878-XiMat	blood
26	chr1:47081800-47082800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:47081800-47082800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:47081800-47082800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:47081800-47082800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr1:47081800-47082800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:47081800-47082800	Active TSS	Esophagus	oesophagus
32	chr1:47081800-47082800	Active TSS	Lung	lung
33	chr1:47081800-47082800	Active TSS	Pancreas	Pancrea
34	chr1:47081800-47082800	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:47081800-47082800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr1:47081800-47082800	Active TSS	Small Intestine	intestine
37	chr1:47081800-47082800	Active TSS	HMEC	breast
38	chr1:47081800-47083000	Active TSS	Stomach Mucosa	stomach
39	chr1:47081800-47083000	Active TSS	NHLF	lung
40	chr1:47081800-47083200	Active TSS	HSMM	muscle
41	chr1:47081800-47083200	Active TSS	HSMMtube	muscle
42	chr1:47081800-47083400	Active TSS	Rectal Smooth Muscle	rectum
43	chr1:47082000-47082200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:47082000-47082200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:47082000-47082200	Active TSS	HepG2	liver
46	chr1:47082000-47082400	Active TSS	Primary hematopoietic stem cells	blood
47	chr1:47082000-47082400	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:47082000-47082400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:47082000-47082600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:47082000-47082600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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