Variant report

Variant	rs4302219
Chromosome Location	chr2:111880284-111880285
allele	G/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	MXI1	chr2:111879503-111880332	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:111879663-111881213	HepG2	liver:	n/a	n/a
3	TCF12	chr2:111879765-111880324	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr2:111877563-111881015	NB4	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
5	NFYA	chr2:111879886-111880509	Hela-S3	cervix:	n/a	chr2:111880091-111880106 chr2:111880091-111880106 chr2:111880095-111880107 chr2:111880092-111880106 chr2:111880087-111880105
6	MAZ	chr2:111879727-111881042	Hela-S3	cervix:	n/a	n/a
7	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
8	SP1	chr2:111879814-111880331	GM12878	blood:	n/a	chr2:111880072-111880084 chr2:111880084-111880105 chr2:111880072-111880084
9	RCOR1	chr2:111879914-111880972	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr2:111880242-111881053	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr2:111879957-111880313	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr2:111877611-111881217	MCF-7	breast:	n/a	n/a
13	CHD1	chr2:111878621-111881270	H1-hESC	embryonic stem cell:	n/a	chr2:111878901-111878911
14	CHD2	chr2:111879396-111880350	GM12878	blood:	n/a	n/a
15	ZNF143	chr2:111879571-111880980	H1-hESC	embryonic stem cell:	n/a	chr2:111880343-111880353
16	POLR2A	chr2:111879821-111880936	HepG2	liver:	n/a	n/a
17	E2F6	chr2:111879760-111880304	A549	lung:	n/a	chr2:111880095-111880104 chr2:111880053-111880060
18	NFYB	chr2:111879750-111880456	GM12878	blood:	n/a	chr2:111880091-111880106 chr2:111880091-111880106 chr2:111880095-111880107 chr2:111880092-111880106 chr2:111880093-111880108
19	POLR2A	chr2:111879163-111880376	GM12892	blood:	n/a	n/a
20	MYC	chr2:111880203-111880293	MCF-7	breast:	n/a	n/a
21	POLR2A	chr2:111877806-111880414	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr2:111880256-111880542	SK-N-SH	brain:	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	PBX3	chr2:111879874-111880286	A549	lung:	n/a	chr2:111879986-111880006 chr2:111880094-111880103
27	E2F1	chr2:111879848-111880927	Hela-S3	cervix:	n/a	chr2:111880549-111880558 chr2:111880095-111880104 chr2:111880318-111880330 chr2:111880053-111880060
28	PAX5	chr2:111879751-111880549	GM12892	blood:	n/a	n/a
29	TAF1	chr2:111879816-111880307	K562	blood:	n/a	n/a
30	MAX	chr2:111877542-111881163	HepG2	liver:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
31	POLR2A	chr2:111877432-111881054	K562	blood:	n/a	n/a
32	POLR2A	chr2:111879903-111880509	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr2:111879759-111880568	K562	blood:	n/a	n/a
34	POLR2A	chr2:111879823-111880384	HepG2	liver:	n/a	n/a
35	MAZ	chr2:111879931-111880729	GM12878	blood:	n/a	n/a
36	SMARCB1	chr2:111877080-111881031	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr2:111877652-111881216	H1-hESC	embryonic stem cell:	n/a	n/a
38	UBTF	chr2:111879632-111881100	K562	blood:	n/a	n/a
39	NFYA	chr2:111879985-111880299	GM12878	blood:	n/a	chr2:111880091-111880106 chr2:111880091-111880106 chr2:111880095-111880107 chr2:111880092-111880106 chr2:111880087-111880105
40	MYC	chr2:111877906-111880742	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
41	TAF7	chr2:111879766-111880377	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr2:111879699-111880339	A549	lung:	n/a	n/a
43	RCOR1	chr2:111879101-111881089	K562	blood:	n/a	n/a
44	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
45	POLR2A	chr2:111877744-111880423	NB4	blood:	n/a	n/a
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	FOXP2	chr2:111879660-111880383	PFSK-1	brain:	n/a	n/a
49	MXI1	chr2:111877406-111881885	SK-N-SH	brain:	n/a	n/a
50	MAX	chr2:111879800-111880322	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
2	chr11:75273124..75273774-chr2:111879874..111880766,2	NB4	blood:
3	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:
4	chr2:111880097..111880707-chr6:33239744..33240317,2	HCT-116	colon:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000204581	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000169679	Chromatin interaction
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10189015	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10211562	0.81[ASN][1000 genomes]
rs1054873	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11674517	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1439287	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1821968	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1837366	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1837367	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1837368	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1837369	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2241841	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241842	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241844	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3789061	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789064	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3789065	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789068	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4627572	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849402	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849403	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56952027	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60286362	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6708784	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6734942	0.86[ASN][1000 genomes]
rs7577824	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593638	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7602904	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
2	chr2:111877000-111881000	Active TSS	Small Intestine	intestine
3	chr2:111877000-111881400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:111877200-111880800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:111877600-111881000	Active TSS	Esophagus	oesophagus
6	chr2:111877600-111881200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:111877600-111881200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:111877600-111881400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:111877800-111880800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:111877800-111881000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr2:111877800-111881000	Active TSS	A549	lung
12	chr2:111877800-111881000	Active TSS	Hela-S3	cervix
13	chr2:111877800-111881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:111877800-111881400	Active TSS	Ovary	ovary
15	chr2:111877800-111881400	Active TSS	HSMMtube	muscle
16	chr2:111878000-111880400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr2:111878000-111880800	Active TSS	Primary T cells from cord blood	blood
18	chr2:111878000-111881000	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr2:111878000-111881000	Active TSS	Aorta	Aorta
20	chr2:111878000-111881000	Active TSS	Brain Anterior Caudate	brain
21	chr2:111878000-111881000	Active TSS	Brain Substantia Nigra	brain
22	chr2:111878000-111881000	Active TSS	Gastric	stomach
23	chr2:111878000-111881000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr2:111878000-111881200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:111878000-111881200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:111878000-111881200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr2:111878000-111881200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:111878000-111881200	Active TSS	Fetal Lung	lung
29	chr2:111878000-111881200	Active TSS	Left Ventricle	heart
30	chr2:111878000-111881200	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:111878000-111881400	Active TSS	Fetal Kidney	kidney
32	chr2:111878200-111880600	Active TSS	Thymus	Thymus
33	chr2:111878200-111880800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:111878200-111880800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:111878200-111880800	Active TSS	Liver	Liver
36	chr2:111878200-111881000	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr2:111878200-111881200	Active TSS	NHDF-Ad	bronchial
38	chr2:111878600-111880600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:111878600-111881200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:111878800-111881200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:111878800-111881400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr2:111879200-111881200	Active TSS	Right Atrium	heart
43	chr2:111879200-111881800	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr2:111879400-111881200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr2:111879400-111881200	Active TSS	Fetal Intestine Large	intestine
46	chr2:111879600-111880600	Active TSS	Rectal Smooth Muscle	rectum
47	chr2:111879600-111881000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:111879600-111881200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr2:111879600-111881200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:111879600-111881200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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