Variant report

Variant	rs2475479
Chromosome Location	chr2:114341011-114341012
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	POLR2A	chr2:114340792-114343507	GM12892	blood:	n/a	n/a
2	HEY1	chr2:114340276-114344058	HepG2	liver:	n/a	n/a
3	TAF1	chr2:114340856-114342386	HepG2	liver:	n/a	n/a
4	HEY1	chr2:114337513-114343481	K562	blood:	n/a	n/a
5	POLR2A	chr2:114340875-114344021	HepG2	liver:	n/a	n/a
6	SP1	chr2:114340742-114343034	GM12878	blood:	n/a	chr2:114342041-114342055 chr2:114342242-114342256 chr2:114341264-114341276 chr2:114341264-114341276 chr2:114341266-114341275 chr2:114341255-114341269
7	POLR2A	chr2:114340851-114341129	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:114339445-114343385	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:114340966-114343514	PFSK-1	brain:	n/a	n/a
10	ZBTB33	chr2:114340797-114342704	GM12878	blood:	n/a	n/a
11	EP300	chr2:114340569-114341213	GM12878	blood:	n/a	n/a
12	TAF1	chr2:114340875-114342372	HepG2	liver:	n/a	n/a
13	BATF	chr2:114340791-114341141	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr2:114340803-114342377	HepG2	liver:	n/a	n/a
15	SP1	chr2:114338833-114343320	HepG2	liver:	n/a	chr2:114342041-114342055 chr2:114342242-114342256 chr2:114341264-114341276 chr2:114341264-114341276 chr2:114341266-114341275 chr2:114341255-114341269
16	JUND	chr2:114340586-114342962	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
17	POLR2A	chr2:114340913-114341892	NB4	blood:	n/a	n/a
18	MAX	chr2:114340904-114341104	K562	blood:	n/a	n/a
19	NR2F2	chr2:114337466-114343058	K562	blood:	n/a	n/a
20	POLR2A	chr2:114340878-114341269	K562	blood:	n/a	n/a
21	YY1	chr2:114340897-114341049	K562	blood:	n/a	n/a
22	PBX3	chr2:114340867-114341112	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:114340769-114343535	GM12892	blood:	n/a	n/a
24	TAF1	chr2:114340850-114342395	H1-hESC	embryonic stem cell:	n/a	n/a
25	EBF1	chr2:114340792-114342292	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:114340967-114342248	PFSK-1	brain:	n/a	n/a
27	TAF1	chr2:114340557-114342697	H1-hESC	embryonic stem cell:	n/a	n/a
28	EBF1	chr2:114340826-114341190	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:114340881-114343402	SK-N-MC	brain:	n/a	n/a
30	SPI1	chr2:114340830-114341131	K562	blood:	n/a	n/a
31	POLR2A	chr2:114340849-114341136	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr2:114340928-114341835	K562	blood:	n/a	n/a
33	POLR2A	chr2:114340929-114341887	PBDE	blood:	n/a	n/a
34	TBP	chr2:114340987-114341818	K562	blood:	n/a	n/a
35	RXRA	chr2:114340554-114342394	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:114340803-114342393	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr2:114340858-114341133	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:114340957-114341269	K562	blood:	n/a	n/a
39	RXRA	chr2:114340800-114342476	HepG2	liver:	n/a	n/a
40	FOSL2	chr2:114340129-114342943	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
41	PAX5	chr2:114340820-114342395	GM12878	blood:	n/a	n/a
42	GABPA	chr2:114340807-114342387	Hela-S3	cervix:	n/a	chr2:114341630-114341639
43	SIX5	chr2:114340578-114341095	K562	blood:	n/a	n/a
44	POU2F2	chr2:114340862-114342552	GM12891	blood:	n/a	chr2:114341592-114341604 chr2:114341636-114341648
45	POLR2A	chr2:114340967-114341219	K562	blood:	n/a	n/a
46	ZBTB33	chr2:114340553-114341034	K562	blood:	n/a	n/a
47	TCF12	chr2:114340857-114341083	GM12878	blood:	n/a	n/a
48	FOSL2	chr2:114339493-114342454	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
49	CBX3	chr2:114339835-114341137	K562	blood:	n/a	n/a
50	RCOR1	chr2:114340956-114341786	K562	blood:	n/a	n/a

Variant related genes	Relation type
WASH2P	TF binding region
MIR1302-3	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv821507	chr2:114322271-114376565	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	esv15077	chr2:114322827-114361868	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv1798912	chr2:114324432-114358204	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	esv1806443	chr2:114324432-114359111	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
10	esv1794265	chr2:114328505-114359007	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
11	esv1805084	chr2:114328505-114366024	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	esv1809766	chr2:114328505-114378566	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	esv1797539	chr2:114328505-114380229	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	esv3347005	chr2:114328582-114341380	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
15	esv3349788	chr2:114328582-114360780	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
16	nsv10133	chr2:114329841-114364593	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
17	esv3415262	chr2:114333882-114342080	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
18	nsv961640	chr2:114336681-114342320	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island miRNA	2 gene(s)	inside rSNPs	diseases
19	esv3368359	chr2:114340182-114360880	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
20	esv3382093	chr2:114340182-114360880	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
21	esv3335957	chr2:114340482-114360880	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
22	esv3406275	chr2:114340582-114360780	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114340000-114341200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:114340200-114341200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr2:114340200-114341200	Enhancers	Spleen	Spleen
4	chr2:114340200-114341600	Flanking Active TSS	Dnd41	blood
5	chr2:114340200-114342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:114340200-114342800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr2:114340400-114342800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:114340600-114341200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:114340600-114342400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:114340600-114342400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:114340600-114342400	Active TSS	Fetal Kidney	kidney
12	chr2:114340600-114342400	Active TSS	Thymus	Thymus
13	chr2:114340600-114342600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:114340600-114342800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:114340600-114343000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:114340800-114341200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:114340800-114341200	Flanking Active TSS	Fetal Lung	lung
18	chr2:114340800-114341600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr2:114340800-114341600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:114340800-114341600	Flanking Active TSS	HMEC	breast
21	chr2:114340800-114341600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:114340800-114342400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:114340800-114342400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:114340800-114342400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr2:114340800-114342400	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:114340800-114342400	Active TSS	K562	blood
27	chr2:114340800-114342400	Active TSS	NHEK	skin
28	chr2:114340800-114342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:114340800-114342600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:114340800-114342600	Active TSS	Brain Germinal Matrix	brain
31	chr2:114340800-114342800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:114340800-114342800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:114340800-114342800	Active TSS	HSMM	muscle
34	chr2:114340800-114343000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr2:114340800-114343000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:114340800-114343000	Active TSS	Fetal Brain Female	brain
37	chr2:114341000-114341200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:114341000-114341200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:114341000-114341200	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr2:114341000-114341200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:114341000-114341200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:114341000-114341200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr2:114341000-114341200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr2:114341000-114341200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:114341000-114341200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:114341000-114341200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:114341000-114341200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:114341000-114341200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:114341000-114341200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr2:114341000-114341200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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