Variant report

Variant	rs370472644
Chromosome Location	chr2:114340707-114340708
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	HEY1	chr2:114340276-114344058	HepG2	liver:	n/a	n/a
2	HEY1	chr2:114337513-114343481	K562	blood:	n/a	n/a
3	POLR2A	chr2:114339445-114343385	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr2:114340569-114341213	GM12878	blood:	n/a	n/a
5	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
6	JUND	chr2:114340586-114342962	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
7	NR2F2	chr2:114337466-114343058	K562	blood:	n/a	n/a
8	IRF1	chr2:114340532-114340732	K562	blood:	n/a	n/a
9	TAF1	chr2:114340557-114342697	H1-hESC	embryonic stem cell:	n/a	n/a
10	RXRA	chr2:114340554-114342394	HepG2	liver:	n/a	n/a
11	FOSL2	chr2:114340129-114342943	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
12	SIX5	chr2:114340578-114341095	K562	blood:	n/a	n/a
13	ZBTB33	chr2:114340553-114341034	K562	blood:	n/a	n/a
14	FOSL2	chr2:114339493-114342454	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
15	CBX3	chr2:114339835-114341137	K562	blood:	n/a	n/a
16	HEY1	chr2:114340651-114343495	HepG2	liver:	n/a	n/a
17	GATA2	chr2:114337455-114341241	K562	blood:	n/a	chr2:114338282-114338292 chr2:114338440-114338447 chr2:114338437-114338447 chr2:114338284-114338291 chr2:114338439-114338449 chr2:114338281-114338293 chr2:114338273-114338290 chr2:114338440-114338449 chr2:114338440-114338447 chr2:114338279-114338295 chr2:114338440-114338447 chr2:114338282-114338291
18	FOXA1	chr2:114340178-114341097	HepG2	liver:	n/a	n/a
19	MYBL2	chr2:114340570-114342854	HepG2	liver:	n/a	n/a
20	IRF4	chr2:114340706-114342570	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:114340607-114342557	H1-hESC	embryonic stem cell:	n/a	n/a
22	NR2F2	chr2:114340580-114341844	K562	blood:	n/a	n/a
23	MXI1	chr2:114340705-114341810	SK-N-SH	brain:	n/a	n/a
24	HEY1	chr2:114337569-114343175	K562	blood:	n/a	n/a
25	TCF12	chr2:114340175-114342605	HepG2	liver:	n/a	n/a
26	POU2F2	chr2:114339475-114343053	GM12878	blood:	n/a	chr2:114342992-114343001 chr2:114342991-114343001 chr2:114341592-114341604 chr2:114342991-114343001 chr2:114342993-114343000 chr2:114341636-114341648 chr2:114342988-114343006
27	SP1	chr2:114340387-114341230	GM12878	blood:	n/a	n/a
28	PAX5	chr2:114340698-114342550	GM12878	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
2	chr2:114340000-114340800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:114340000-114341000	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:114340000-114341000	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:114340000-114341000	Enhancers	Placenta	Placenta
6	chr2:114340000-114341000	Enhancers	HSMMtube	muscle
7	chr2:114340000-114341200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:114340200-114340800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:114340200-114340800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:114340200-114340800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:114340200-114340800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:114340200-114340800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:114340200-114340800	Enhancers	Fetal Lung	lung
14	chr2:114340200-114340800	Enhancers	HMEC	breast
15	chr2:114340200-114340800	Flanking Active TSS	K562	blood
16	chr2:114340200-114341000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:114340200-114341000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:114340200-114341000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:114340200-114341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:114340200-114341000	Enhancers	Fetal Muscle Leg	muscle
21	chr2:114340200-114341200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr2:114340200-114341200	Enhancers	Spleen	Spleen
23	chr2:114340200-114341600	Flanking Active TSS	Dnd41	blood
24	chr2:114340200-114342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:114340200-114342800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr2:114340400-114340800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:114340400-114340800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:114340400-114340800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:114340400-114340800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:114340400-114340800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:114340400-114340800	Enhancers	Brain Anterior Caudate	brain
32	chr2:114340400-114340800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:114340400-114341000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:114340400-114341000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr2:114340400-114341000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:114340400-114341000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:114340400-114341000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:114340400-114341000	Enhancers	Liver	Liver
39	chr2:114340400-114341000	Enhancers	Esophagus	oesophagus
40	chr2:114340400-114341000	Enhancers	Fetal Brain Male	brain
41	chr2:114340400-114341000	Enhancers	Fetal Stomach	stomach
42	chr2:114340400-114341000	Enhancers	Pancreas	Pancrea
43	chr2:114340400-114342800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr2:114340600-114340800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:114340600-114340800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:114340600-114340800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr2:114340600-114340800	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:114340600-114340800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:114340600-114340800	Enhancers	Fetal Brain Female	brain
50	chr2:114340600-114340800	Flanking Bivalent TSS/Enh	HepG2	liver

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