Variant report

Variant	rs146352538
Chromosome Location	chr2:114340184-114340185
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	RXRA	chr2:114339461-114340273	HepG2	liver:	n/a	n/a
2	HEY1	chr2:114337513-114343481	K562	blood:	n/a	n/a
3	ARID3A	chr2:114340115-114340374	K562	blood:	n/a	n/a
4	POLR2A	chr2:114339445-114343385	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr2:114340094-114340369	K562	blood:	n/a	n/a
6	IRF1	chr2:114340169-114340189	K562	blood:	n/a	n/a
7	JUN	chr2:114340006-114340636	K562	blood:	n/a	n/a
8	EP300	chr2:114340116-114340378	K562	blood:	n/a	n/a
9	JUN	chr2:114340119-114340325	K562	blood:	n/a	n/a
10	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
11	ZBTB33	chr2:114339441-114340642	HepG2	liver:	n/a	n/a
12	NR2F2	chr2:114337466-114343058	K562	blood:	n/a	n/a
13	ATF1	chr2:114340089-114340480	K562	blood:	n/a	n/a
14	MYC	chr2:114340120-114340313	K562	blood:	n/a	n/a
15	CUX1	chr2:114340173-114340373	K562	blood:	n/a	n/a
16	FOSL2	chr2:114340129-114342943	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
17	MAFK	chr2:114340180-114340326	K562	blood:	n/a	n/a
18	JUND	chr2:114340009-114340414	K562	blood:	n/a	n/a
19	EP300	chr2:114340150-114340419	GM12878	blood:	n/a	n/a
20	FOSL2	chr2:114339493-114342454	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
21	CBX3	chr2:114339835-114341137	K562	blood:	n/a	n/a
22	TAL1	chr2:114340127-114340294	K562	blood:	n/a	n/a
23	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
24	FOXA1	chr2:114340178-114341097	HepG2	liver:	n/a	n/a
25	ZMIZ1	chr2:114340174-114340419	K562	blood:	n/a	n/a
26	POLR2A	chr2:114340153-114340567	H1-hESC	embryonic stem cell:	n/a	n/a
27	HEY1	chr2:114337569-114343175	K562	blood:	n/a	n/a
28	TCF12	chr2:114340175-114342605	HepG2	liver:	n/a	n/a
29	TEAD4	chr2:114340069-114340541	K562	blood:	n/a	n/a
30	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
31	JUND	chr2:114340117-114340374	HepG2	liver:	n/a	n/a
32	TBL1XR1	chr2:114340169-114340562	K562	blood:	n/a	n/a
33	ZBTB33	chr2:114339282-114340442	K562	blood:	n/a	n/a

Variant related genes	Relation type
WASH2P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114311400-114340400	Weak transcription	Fetal Stomach	stomach
2	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
3	chr2:114333200-114340200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:114334800-114340200	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:114336600-114340200	Enhancers	K562	blood
6	chr2:114336800-114340200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:114337000-114340200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:114339000-114340200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:114339200-114340200	Weak transcription	NHLF	lung
10	chr2:114340000-114340200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:114340000-114340200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:114340000-114340200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:114340000-114340200	Enhancers	Fetal Kidney	kidney
14	chr2:114340000-114340200	Enhancers	Dnd41	blood
15	chr2:114340000-114340600	Bivalent Enhancer	HepG2	liver
16	chr2:114340000-114340800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:114340000-114341000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:114340000-114341000	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:114340000-114341000	Enhancers	Placenta	Placenta
20	chr2:114340000-114341000	Enhancers	HSMMtube	muscle
21	chr2:114340000-114341200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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