Variant report

Variant	rs570519676
Chromosome Location	chr2:111879620-111879621
allele	A/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	MXI1	chr2:111879503-111880332	Hela-S3	cervix:	n/a	n/a
2	MAX	chr2:111877563-111881015	NB4	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
3	E2F6	chr2:111876311-111880584	H1-hESC	embryonic stem cell:	n/a	chr2:111876443-111876455 chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111877347-111877357 chr2:111876622-111876632 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
4	TCF12	chr2:111877680-111880212	A549	lung:	n/a	n/a
5	SIN3AK20	chr2:111877611-111881217	MCF-7	breast:	n/a	n/a
6	CHD1	chr2:111878621-111881270	H1-hESC	embryonic stem cell:	n/a	chr2:111878901-111878911
7	CHD2	chr2:111879396-111880350	GM12878	blood:	n/a	n/a
8	ZNF143	chr2:111879571-111880980	H1-hESC	embryonic stem cell:	n/a	chr2:111880343-111880353
9	TCF12	chr2:111877517-111879634	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr2:111879163-111880376	GM12892	blood:	n/a	n/a
11	ZNF143	chr2:111879495-111879677	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:111877806-111880414	GM12878	blood:	n/a	n/a
13	HCFC1	chr2:111877979-111880854	K562	blood:	n/a	n/a
14	POLR2A	chr2:111877942-111881067	IMR90	lung:	n/a	n/a
15	TCF3	chr2:111879342-111879622	GM12878	blood:	n/a	n/a
16	E2F6	chr2:111878578-111880256	A549	lung:	n/a	chr2:111880095-111880104 chr2:111878679-111878691 chr2:111880053-111880060
17	MAX	chr2:111877542-111881163	HepG2	liver:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
18	CTCF	chr2:111879600-111879750	NHEK	skin:	n/a	n/a
19	POLR2A	chr2:111877432-111881054	K562	blood:	n/a	n/a
20	SMARCB1	chr2:111877080-111881031	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:111877652-111881216	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr2:111877906-111880742	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
23	RCOR1	chr2:111879101-111881089	K562	blood:	n/a	n/a
24	GTF2F1	chr2:111879495-111880266	K562	blood:	n/a	n/a
25	SMC3	chr2:111879425-111879622	K562	blood:	n/a	n/a
26	E2F6	chr2:111877723-111880882	Hela-S3	cervix:	n/a	chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
27	POLR2A	chr2:111877744-111880423	NB4	blood:	n/a	n/a
28	MAZ	chr2:111877230-111879730	GM12878	blood:	n/a	chr2:111878235-111878244 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
29	CTCF	chr2:111879620-111879770	GM12871	blood:	n/a	n/a
30	E2F6	chr2:111879444-111880958	K562	blood:	n/a	chr2:111880549-111880558 chr2:111880095-111880104 chr2:111880318-111880330 chr2:111880053-111880060
31	UBTF	chr2:111877688-111881146	K562	blood:	n/a	n/a
32	RFX5	chr2:111879577-111880262	Hela-S3	cervix:	n/a	chr2:111880094-111880103
33	MXI1	chr2:111877406-111881885	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr2:111879402-111880124	GM12878	blood:	n/a	n/a
35	BACH1	chr2:111879593-111879716	H1-hESC	embryonic stem cell:	n/a	n/a
36	BHLHE40	chr2:111877526-111880906	K562	blood:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111880077-111880093 chr2:111878166-111878182 chr2:111879143-111879159
37	HDAC2	chr2:111879515-111879750	K562	blood:	n/a	n/a
38	SIN3AK20	chr2:111877950-111881096	PANC-1	pancreas:	n/a	n/a
39	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:111877766-111881072	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:111877690-111879624	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr2:111877803-111881080	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:111879265-111880311	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAZ	chr2:111879285-111881309	IMR90	lung:	n/a	n/a
45	HDAC2	chr2:111879593-111880829	HepG2	liver:	n/a	n/a
46	MAX	chr2:111877586-111880464	A549	lung:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
47	POLR2A	chr2:111878174-111880226	GM12878	blood:	n/a	n/a
48	MAX	chr2:111877544-111881099	MCF-7	breast:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
49	POLR2A	chr2:111877091-111880269	Raji	blood:	n/a	n/a
50	SIN3AK20	chr2:111879596-111879962	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
2	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
3	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000172965	Chromatin interaction
ENSG00000204581	Chromatin interaction
ENSG00000169679	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv829618	chr2:111875627-111881547	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3338590	chr2:111876081-111880479	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3373707	chr2:111877306-111879854	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3392605	chr2:111879306-111881854	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
4	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
6	chr2:111876200-111880000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:111876400-111880000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:111877000-111881000	Active TSS	Small Intestine	intestine
9	chr2:111877000-111881400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:111877200-111880800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:111877600-111879800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:111877600-111881000	Active TSS	Esophagus	oesophagus
13	chr2:111877600-111881200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:111877600-111881200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:111877600-111881400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:111877800-111880000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:111877800-111880800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:111877800-111881000	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr2:111877800-111881000	Active TSS	A549	lung
20	chr2:111877800-111881000	Active TSS	Hela-S3	cervix
21	chr2:111877800-111881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr2:111877800-111881400	Active TSS	Ovary	ovary
23	chr2:111877800-111881400	Active TSS	HSMMtube	muscle
24	chr2:111878000-111880400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr2:111878000-111880800	Active TSS	Primary T cells from cord blood	blood
26	chr2:111878000-111881000	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:111878000-111881000	Active TSS	Aorta	Aorta
28	chr2:111878000-111881000	Active TSS	Brain Anterior Caudate	brain
29	chr2:111878000-111881000	Active TSS	Brain Substantia Nigra	brain
30	chr2:111878000-111881000	Active TSS	Gastric	stomach
31	chr2:111878000-111881000	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr2:111878000-111881200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:111878000-111881200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:111878000-111881200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr2:111878000-111881200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:111878000-111881200	Active TSS	Fetal Lung	lung
37	chr2:111878000-111881200	Active TSS	Left Ventricle	heart
38	chr2:111878000-111881200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr2:111878000-111881400	Active TSS	Fetal Kidney	kidney
40	chr2:111878200-111880600	Active TSS	Thymus	Thymus
41	chr2:111878200-111880800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:111878200-111880800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr2:111878200-111880800	Active TSS	Liver	Liver
44	chr2:111878200-111881000	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr2:111878200-111881200	Active TSS	NHDF-Ad	bronchial
46	chr2:111878600-111880000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr2:111878600-111880000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
48	chr2:111878600-111880000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:111878600-111880000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:111878600-111880000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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