Variant report

Variant	rs6739756
Chromosome Location	chr2:111879845-111879846
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	MXI1	chr2:111879503-111880332	Hela-S3	cervix:	n/a	n/a
2	ZNF384	chr2:111879752-111880156	K562	blood:	n/a	n/a
3	POLR2A	chr2:111879663-111881213	HepG2	liver:	n/a	n/a
4	PML	chr2:111879746-111880199	MCF-7	breast:	n/a	n/a
5	TCF12	chr2:111879765-111880324	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr2:111877563-111881015	NB4	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
7	MAZ	chr2:111879727-111881042	Hela-S3	cervix:	n/a	n/a
8	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
9	CBX3	chr2:111879806-111880174	K562	blood:	n/a	n/a
10	TBP	chr2:111879838-111880206	Hela-S3	cervix:	n/a	n/a
11	SP1	chr2:111879814-111880331	GM12878	blood:	n/a	chr2:111880072-111880084 chr2:111880084-111880105 chr2:111880072-111880084
12	TCF12	chr2:111877680-111880212	A549	lung:	n/a	n/a
13	SIN3AK20	chr2:111877611-111881217	MCF-7	breast:	n/a	n/a
14	CHD1	chr2:111878621-111881270	H1-hESC	embryonic stem cell:	n/a	chr2:111878901-111878911
15	CHD2	chr2:111879396-111880350	GM12878	blood:	n/a	n/a
16	ZNF143	chr2:111879571-111880980	H1-hESC	embryonic stem cell:	n/a	chr2:111880343-111880353
17	POLR2A	chr2:111879821-111880936	HepG2	liver:	n/a	n/a
18	E2F6	chr2:111879760-111880304	A549	lung:	n/a	chr2:111880095-111880104 chr2:111880053-111880060
19	NFYB	chr2:111879750-111880456	GM12878	blood:	n/a	chr2:111880091-111880106 chr2:111880091-111880106 chr2:111880095-111880107 chr2:111880092-111880106 chr2:111880093-111880108
20	POLR2A	chr2:111879163-111880376	GM12892	blood:	n/a	n/a
21	BRCA1	chr2:111879778-111880050	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:111877806-111880414	GM12878	blood:	n/a	n/a
23	HCFC1	chr2:111877979-111880854	K562	blood:	n/a	n/a
24	POLR2A	chr2:111879787-111880534	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr2:111877942-111881067	IMR90	lung:	n/a	n/a
26	PAX5	chr2:111879751-111880549	GM12892	blood:	n/a	n/a
27	E2F6	chr2:111878578-111880256	A549	lung:	n/a	chr2:111880095-111880104 chr2:111878679-111878691 chr2:111880053-111880060
28	TAF1	chr2:111879816-111880307	K562	blood:	n/a	n/a
29	MAX	chr2:111877542-111881163	HepG2	liver:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
30	POLR2A	chr2:111877432-111881054	K562	blood:	n/a	n/a
31	ELK1	chr2:111879728-111880169	K562	blood:	n/a	n/a
32	POLR2A	chr2:111879759-111880568	K562	blood:	n/a	n/a
33	POLR2A	chr2:111879823-111880384	HepG2	liver:	n/a	n/a
34	RAD21	chr2:111879825-111880179	SK-N-SH_RA	brain:	n/a	n/a
35	SMARCB1	chr2:111877080-111881031	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr2:111877652-111881216	H1-hESC	embryonic stem cell:	n/a	n/a
37	UBTF	chr2:111879632-111881100	K562	blood:	n/a	n/a
38	MYC	chr2:111877906-111880742	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
39	TAF7	chr2:111879766-111880377	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr2:111879699-111880339	A549	lung:	n/a	n/a
41	RCOR1	chr2:111879101-111881089	K562	blood:	n/a	n/a
42	GTF2F1	chr2:111879495-111880266	K562	blood:	n/a	n/a
43	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
44	POLR2A	chr2:111877744-111880423	NB4	blood:	n/a	n/a
45	POU2F2	chr2:111879754-111880094	GM12878	blood:	n/a	chr2:111880079-111880091
46	E2F6	chr2:111879444-111880958	K562	blood:	n/a	chr2:111880549-111880558 chr2:111880095-111880104 chr2:111880318-111880330 chr2:111880053-111880060
47	UBTF	chr2:111877688-111881146	K562	blood:	n/a	n/a
48	FOXA1	chr2:111879753-111880253	HepG2	liver:	n/a	n/a
49	RFX5	chr2:111879577-111880262	Hela-S3	cervix:	n/a	chr2:111880094-111880103
50	FOXP2	chr2:111879660-111880383	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111879843-111879893	T-47D	breast:	n/a
2	chr2:111879843-111879893	CMK	blood:	n/a
3	chr2:111879843-111879893	HRCEpiC	kidney:	n/a
4	chr2:111879843-111879893	AG09319	gingival:	n/a
5	chr2:111879843-111879893	Hepatocyte	liver:	n/a
6	chr2:111879843-111879893	HUVEC	blood vessel:	n/a
7	chr2:111879843-111879893	Caco-2	colon:	n/a
8	chr2:111879843-111879893	PANC-1	pancreas:	n/a
9	chr2:111879843-111879893	SAEC	small airway:	n/a
10	chr2:111879843-111879893	AoSMC	blood vessel:	n/a
11	chr2:111879843-111879893	PFSK-1	brain:	n/a
12	chr2:111879843-111879893	MCF10A-Er-Src	breast:	n/a
13	chr2:111879843-111879893	HRE	kidney:	n/a
14	chr2:111879843-111879893	ECC-1	luminal epithelium:	n/a
15	chr2:111879843-111879893	HepG2	liver:	n/a
16	chr2:111879843-111879893	Jurkat	blood:	n/a
17	chr2:111879843-111879893	ProgFib	skin:	n/a
18	chr2:111879843-111879893	NHDF-neo	bronchial:	n/a
19	chr2:111879843-111879893	A549	lung:	n/a
20	chr2:111879843-111879893	SK-N-SH	brain:	n/a
21	chr2:111879843-111879893	GM12891	blood:	n/a
22	chr2:111879843-111879893	GM12878	blood:	n/a
23	chr2:111879843-111879893	LNCaP	prostate:	n/a
24	chr2:111879843-111879893	NH-A	brain:	n/a
25	chr2:111879843-111879893	HCF	heart:	n/a
26	chr2:111879843-111879893	NHBE	bronchial:	n/a
27	chr2:111879843-111879893	BJ	skin:	n/a
28	chr2:111879843-111879893	GM06990	blood:	n/a
29	chr2:111879843-111879893	HNPCEpiC	eye:	n/a
30	chr2:111879843-111879893	BE2_C	brain:	n/a
31	chr2:111879843-111879893	K562	blood:	n/a
32	chr2:111879843-111879893	GM19239	blood:	n/a
33	chr2:111879843-111879893	AG04449	skin:	fetal
34	chr2:111879843-111879893	HCT-116	colon:	n/a
35	chr2:111879843-111879893	PrEC	prostate:	n/a
36	chr2:111879843-111879893	HCPEpiC	choroid plexus:	n/a
37	chr2:111879843-111879893	HRPEpiC	eye:	n/a
38	chr2:111879843-111879893	IMR90	lung:	fetal
39	chr2:111879843-111879893	AG04450	lung:	fetal
40	chr2:111879843-111879893	GM12892	blood:	n/a
41	chr2:111879843-111879893	SK-N-MC	brain:	n/a
42	chr2:111879843-111879893	AG10803	skin:	n/a
43	chr2:111879843-111879893	AG09309	skin:	n/a
44	chr2:111879843-111879893	HL-60	blood:	n/a
45	chr2:111879843-111879893	NB4	blood:	n/a
46	chr2:111879843-111879893	SK-N-SH_RA	brain:	n/a
47	chr2:111879843-111879893	U87	brain:	n/a
48	chr2:111879843-111879893	H1-hESC	embryonic stem cell:	embryo
49	chr2:111879843-111879893	NT2-D1	testis:	n/a
50	chr2:111879843-111879893	SKMC	muscle:	n/a

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

Variant related genes	Relation type
BCL2L11	TF binding region
BCL2L11	CpG island
ENSG00000169679	Chromatin interaction
ENSG00000204581	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	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
5	chr2:111876200-111880000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:111876400-111880000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:111877000-111881000	Active TSS	Small Intestine	intestine
8	chr2:111877000-111881400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:111877200-111880800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:111877600-111881000	Active TSS	Esophagus	oesophagus
11	chr2:111877600-111881200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:111877600-111881200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:111877600-111881400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:111877800-111880000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:111877800-111880800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:111877800-111881000	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr2:111877800-111881000	Active TSS	A549	lung
18	chr2:111877800-111881000	Active TSS	Hela-S3	cervix
19	chr2:111877800-111881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:111877800-111881400	Active TSS	Ovary	ovary
21	chr2:111877800-111881400	Active TSS	HSMMtube	muscle
22	chr2:111878000-111880400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr2:111878000-111880800	Active TSS	Primary T cells from cord blood	blood
24	chr2:111878000-111881000	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr2:111878000-111881000	Active TSS	Aorta	Aorta
26	chr2:111878000-111881000	Active TSS	Brain Anterior Caudate	brain
27	chr2:111878000-111881000	Active TSS	Brain Substantia Nigra	brain
28	chr2:111878000-111881000	Active TSS	Gastric	stomach
29	chr2:111878000-111881000	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr2:111878000-111881200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:111878000-111881200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:111878000-111881200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr2:111878000-111881200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:111878000-111881200	Active TSS	Fetal Lung	lung
35	chr2:111878000-111881200	Active TSS	Left Ventricle	heart
36	chr2:111878000-111881200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr2:111878000-111881400	Active TSS	Fetal Kidney	kidney
38	chr2:111878200-111880600	Active TSS	Thymus	Thymus
39	chr2:111878200-111880800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:111878200-111880800	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr2:111878200-111880800	Active TSS	Liver	Liver
42	chr2:111878200-111881000	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr2:111878200-111881200	Active TSS	NHDF-Ad	bronchial
44	chr2:111878600-111880000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr2:111878600-111880000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
46	chr2:111878600-111880000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:111878600-111880000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:111878600-111880000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:111878600-111880600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr2:111878600-111881200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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