Variant report

Variant	rs13432763
Chromosome Location	chr2:188417655-188417656
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	IRF1	chr2:188416961-188419744	K562	blood:	n/a	chr2:188418226-188418237 chr2:188418223-188418237 chr2:188417369-188417385 chr2:188418225-188418236 chr2:188418794-188418807 chr2:188418226-188418238 chr2:188418226-188418238 chr2:188418554-188418574 chr2:188418227-188418237 chr2:188418227-188418241 chr2:188418221-188418238
2	POLR2A	chr2:188417421-188419368	MCF10A-Er-Src	breast:	n/a	n/a
3	IRF1	chr2:188416940-188419415	K562	blood:	n/a	chr2:188418226-188418237 chr2:188418223-188418237 chr2:188417369-188417385 chr2:188418225-188418236 chr2:188418794-188418807 chr2:188418226-188418238 chr2:188418226-188418238 chr2:188418554-188418574 chr2:188418227-188418237 chr2:188418227-188418241 chr2:188418221-188418238
4	POLR2A	chr2:188417292-188419679	Hela-S3	cervix:	n/a	n/a
5	ARID3A	chr2:188417188-188419388	K562	blood:	n/a	n/a
6	SMARCA4	chr2:188417077-188419837	K562	blood:	n/a	chr2:188418064-188418073
7	POLR2A	chr2:188417582-188419365	HepG2	liver:	n/a	n/a
8	MXI1	chr2:188417652-188419816	IMR90	lung:	n/a	n/a
9	KAP1	chr2:188417393-188418005	K562	blood:	n/a	n/a
10	MYBL2	chr2:188417633-188419992	HepG2	liver:	n/a	n/a
11	MBD4	chr2:188417135-188420616	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:188417257-188418421	K562	blood:	n/a	n/a
13	POLR2A	chr2:188417632-188419364	MCF10A-Er-Src	breast:	n/a	n/a
14	RFX5	chr2:188417492-188418416	K562	blood:	n/a	n/a
15	TBL1XR1	chr2:188417268-188418442	K562	blood:	n/a	n/a
16	RFX5	chr2:188417602-188418584	IMR90	lung:	n/a	n/a
17	JUN	chr2:188417317-188418371	K562	blood:	n/a	chr2:188418064-188418072
18	GATA1	chr2:188417654-188419687	PBDE	blood:	n/a	chr2:188418085-188418094 chr2:188418825-188418838
19	POLR2A	chr2:188417133-188419555	HUVEC	blood vessel:	n/a	n/a
20	GATA2	chr2:188417058-188418444	HUVEC	blood vessel:	n/a	chr2:188417107-188417128 chr2:188418085-188418094 chr2:188417474-188417495
21	GATA3	chr2:188416868-188417666	MCF-7	breast:	n/a	chr2:188417107-188417128 chr2:188417474-188417495
22	NFIC	chr2:188417654-188418241	HepG2	liver:	n/a	n/a
23	TEAD4	chr2:188417512-188418488	HepG2	liver:	n/a	n/a
24	SP1	chr2:188417637-188418383	HCT-116	colon:	n/a	n/a
25	POLR2A	chr2:188417272-188419402	IMR90	lung:	n/a	n/a
26	MYC	chr2:188417504-188418621	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:187749024..187750695-chr2:188416544..188418279,2	K562	blood:
2	chr2:188395046..188397968-chr2:188414786..188417959,4	K562	blood:
3	chr2:188364663..188366800-chr2:188416557..188418283,2	K562	blood:
4	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:
5	chr2:188368955..188371760-chr2:188416561..188418698,2	K562	blood:

Variant related genes	Relation type
ENSG00000224063	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10197436	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10201169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612748	0.89[ASN][1000 genomes]
rs12616095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12618708	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622831	0.89[ASN][1000 genomes]
rs13427934	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1861309	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs55881028	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6737903	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73050564	0.81[AFR][1000 genomes]
rs73050572	0.81[AFR][1000 genomes]
rs7565807	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8176418	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8176420	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8176444	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8176482	0.89[ASN][1000 genomes]
rs8176490	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8176594	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8176603	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188398400-188418000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:188406200-188418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:188406800-188418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:188406800-188418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:188406800-188422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:188410800-188417800	Weak transcription	Fetal Kidney	kidney
7	chr2:188410800-188420600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:188411000-188418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:188411200-188419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:188412600-188418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:188412600-188418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:188413400-188417800	Weak transcription	HMEC	breast
13	chr2:188413400-188417800	Weak transcription	NHEK	skin
14	chr2:188413400-188418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:188413600-188419800	Active TSS	Right Atrium	heart
16	chr2:188413800-188417800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:188414600-188417800	Enhancers	Fetal Intestine Small	intestine
18	chr2:188414600-188419600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:188415000-188417800	Weak transcription	Fetal Brain Male	brain
20	chr2:188415000-188431200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:188415600-188419400	Active TSS	Adipose Nuclei	Adipose
22	chr2:188415800-188419600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:188416000-188420400	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:188416200-188417800	Weak transcription	Ovary	ovary
25	chr2:188416200-188418200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:188416200-188419800	Active TSS	HSMMtube	muscle
27	chr2:188416400-188417800	Weak transcription	Aorta	Aorta
28	chr2:188416400-188417800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:188416400-188418200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:188416400-188418800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:188416400-188418800	Weak transcription	Left Ventricle	heart
32	chr2:188416400-188418800	Weak transcription	Lung	lung
33	chr2:188416400-188418800	Weak transcription	Pancreas	Pancrea
34	chr2:188416400-188419400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:188416400-188419400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:188416400-188419400	Active TSS	Fetal Lung	lung
37	chr2:188416400-188419400	Active TSS	A549	lung
38	chr2:188416400-188419600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:188416400-188419600	Active TSS	HSMM	muscle
40	chr2:188416400-188419600	Active TSS	K562	blood
41	chr2:188416400-188419800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:188416400-188419800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:188416400-188419800	Active TSS	Liver	Liver
44	chr2:188416400-188420000	Active TSS	Psoas Muscle	Psoas
45	chr2:188416400-188420400	Active TSS	NHLF	lung
46	chr2:188416600-188418800	Active TSS	HepG2	liver
47	chr2:188416600-188419400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr2:188416600-188419400	Active TSS	HUVEC	blood vessel
49	chr2:188416600-188419400	Active TSS	NH-A	brain
50	chr2:188416600-188419600	Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links