Variant report

Variant	rs558295413
Chromosome Location	chr2:114340872-114340873
allele	C/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	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	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
6	POLR2A	chr2:114340851-114341129	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:114339445-114343385	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB33	chr2:114340797-114342704	GM12878	blood:	n/a	n/a
9	EP300	chr2:114340569-114341213	GM12878	blood:	n/a	n/a
10	BATF	chr2:114340791-114341141	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr2:114340803-114342377	HepG2	liver:	n/a	n/a
12	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
13	JUND	chr2:114340586-114342962	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
14	NR2F2	chr2:114337466-114343058	K562	blood:	n/a	n/a
15	PBX3	chr2:114340867-114341112	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:114340769-114343535	GM12892	blood:	n/a	n/a
17	TAF1	chr2:114340850-114342395	H1-hESC	embryonic stem cell:	n/a	n/a
18	EBF1	chr2:114340792-114342292	GM12878	blood:	n/a	n/a
19	TAF1	chr2:114340557-114342697	H1-hESC	embryonic stem cell:	n/a	n/a
20	EBF1	chr2:114340826-114341190	GM12878	blood:	n/a	n/a
21	SPI1	chr2:114340830-114341131	K562	blood:	n/a	n/a
22	POLR2A	chr2:114340849-114341136	Hela-S3	cervix:	n/a	n/a
23	RXRA	chr2:114340554-114342394	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:114340803-114342393	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr2:114340858-114341133	HepG2	liver:	n/a	n/a
26	RXRA	chr2:114340800-114342476	HepG2	liver:	n/a	n/a
27	FOSL2	chr2:114340129-114342943	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
28	PAX5	chr2:114340820-114342395	GM12878	blood:	n/a	n/a
29	GABPA	chr2:114340807-114342387	Hela-S3	cervix:	n/a	chr2:114341630-114341639
30	SIX5	chr2:114340578-114341095	K562	blood:	n/a	n/a
31	POU2F2	chr2:114340862-114342552	GM12891	blood:	n/a	chr2:114341592-114341604 chr2:114341636-114341648
32	ZBTB33	chr2:114340553-114341034	K562	blood:	n/a	n/a
33	TCF12	chr2:114340857-114341083	GM12878	blood:	n/a	n/a
34	FOSL2	chr2:114339493-114342454	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
35	CBX3	chr2:114339835-114341137	K562	blood:	n/a	n/a
36	SIN3AK20	chr2:114340855-114342967	HepG2	liver:	n/a	n/a
37	HEY1	chr2:114340651-114343495	HepG2	liver:	n/a	n/a
38	PAX5	chr2:114340861-114342404	GM12878	blood:	n/a	n/a
39	USF1	chr2:114340805-114342380	HepG2	liver:	n/a	chr2:114342110-114342126
40	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
41	FOXA1	chr2:114340178-114341097	HepG2	liver:	n/a	n/a
42	BATF	chr2:114340809-114341094	GM12878	blood:	n/a	n/a
43	MYBL2	chr2:114340570-114342854	HepG2	liver:	n/a	n/a
44	POU2F2	chr2:114340847-114342411	GM12891	blood:	n/a	chr2:114341592-114341604 chr2:114341636-114341648
45	IRF4	chr2:114340706-114342570	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:114340607-114342557	H1-hESC	embryonic stem cell:	n/a	n/a
47	BCL11A	chr2:114340779-114341050	GM12878	blood:	n/a	n/a
48	NR2F2	chr2:114340580-114341844	K562	blood:	n/a	n/a
49	PAX5	chr2:114340850-114341046	GM12878	blood:	n/a	n/a
50	MXI1	chr2:114340705-114341810	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MIR1302-3	TF binding region
WASH2P	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
2	chr2:114340000-114341000	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr2:114340000-114341000	Enhancers	Fetal Muscle Trunk	muscle
4	chr2:114340000-114341000	Enhancers	Placenta	Placenta
5	chr2:114340000-114341000	Enhancers	HSMMtube	muscle
6	chr2:114340000-114341200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:114340200-114341000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:114340200-114341000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:114340200-114341000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:114340200-114341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:114340200-114341000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:114340200-114341200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:114340200-114341200	Enhancers	Spleen	Spleen
14	chr2:114340200-114341600	Flanking Active TSS	Dnd41	blood
15	chr2:114340200-114342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:114340200-114342800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:114340400-114341000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:114340400-114341000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr2:114340400-114341000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:114340400-114341000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:114340400-114341000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:114340400-114341000	Enhancers	Liver	Liver
23	chr2:114340400-114341000	Enhancers	Esophagus	oesophagus
24	chr2:114340400-114341000	Enhancers	Fetal Brain Male	brain
25	chr2:114340400-114341000	Enhancers	Fetal Stomach	stomach
26	chr2:114340400-114341000	Enhancers	Pancreas	Pancrea
27	chr2:114340400-114342800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:114340600-114341000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:114340600-114341000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:114340600-114341000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:114340600-114341000	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:114340600-114341000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:114340600-114341000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:114340600-114341000	Enhancers	Colon Smooth Muscle	Colon
35	chr2:114340600-114341000	Enhancers	Fetal Intestine Small	intestine
36	chr2:114340600-114341000	Enhancers	Fetal Thymus	thymus
37	chr2:114340600-114341000	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:114340600-114341000	Enhancers	NHLF	lung
39	chr2:114340600-114341200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:114340600-114342400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:114340600-114342400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:114340600-114342400	Active TSS	Fetal Kidney	kidney
43	chr2:114340600-114342400	Active TSS	Thymus	Thymus
44	chr2:114340600-114342600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:114340600-114342800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:114340600-114343000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:114340800-114341000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:114340800-114341000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:114340800-114341000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:114340800-114341000	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links