Variant report

Variant	rs62193107
Chromosome Location	chr2:231092166-231092167
allele	A/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	EP300	chr2:231092055-231092289	GM12878	blood:	n/a	n/a
2	MTA3	chr2:231091705-231092342	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:231091680-231092269	GM12878	blood:	n/a	n/a
4	RUNX3	chr2:231091883-231092371	GM12878	blood:	n/a	n/a
5	JUND	chr2:231092034-231092399	HepG2	liver:	n/a	n/a
6	ATF2	chr2:231091899-231092520	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:231091794-231092354	GM12892	blood:	n/a	n/a
8	IKZF1	chr2:231091878-231092272	GM12878	blood:	n/a	n/a
9	NFIC	chr2:231091959-231092315	GM12878	blood:	n/a	n/a
10	EBF1	chr2:231091818-231092206	GM12878	blood:	n/a	n/a
11	MXI1	chr2:231092046-231092475	GM12878	blood:	n/a	n/a
12	JUN	chr2:231092114-231092350	HepG2	liver:	n/a	chr2:231092211-231092224
13	RUNX3	chr2:231091844-231092298	GM12878	blood:	n/a	n/a
14	HNF4A	chr2:231091898-231092259	HepG2	liver:	n/a	chr2:231092072-231092094 chr2:231092075-231092090 chr2:231092076-231092091 chr2:231092077-231092089 chr2:231092077-231092090 chr2:231092076-231092091 chr2:231092076-231092091 chr2:231092082-231092090 chr2:231092077-231092089 chr2:231092076-231092091 chr2:231092083-231092091 chr2:231092076-231092091 chr2:231092077-231092089
15	POLR2A	chr2:231091708-231092261	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231087067..231089892-chr2:231091301..231094794,3	K562	blood:
2	chr2:231088013..231089892-chr2:231091301..231094041,2	K562	blood:

Variant related genes	Relation type
SP110	TF binding region
SP140	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10164566	0.94[EUR][1000 genomes]
rs10177685	0.88[ASN][1000 genomes]
rs10200874	0.88[ASN][1000 genomes]
rs10498245	0.88[ASN][1000 genomes]
rs12472020	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12477360	0.90[EUR][1000 genomes]
rs13389060	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13395371	0.88[ASN][1000 genomes]
rs13422994	0.88[EUR][1000 genomes]
rs1346311	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16826952	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863677	0.88[ASN][1000 genomes]
rs2081713	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2114588	0.88[ASN][1000 genomes]
rs2114590	0.88[ASN][1000 genomes]
rs2162481	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2396741	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34839676	0.88[ASN][1000 genomes]
rs3769841	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769842	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769843	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769844	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769846	0.90[EUR][1000 genomes]
rs3813464	0.88[ASN][1000 genomes]
rs3820975	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3829782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4343458	0.94[EUR][1000 genomes]
rs4972943	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972945	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4973302	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4973304	0.88[ASN][1000 genomes]
rs4973305	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4973306	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57003673	0.94[EUR][1000 genomes]
rs57402789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59020873	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59805999	0.87[EUR][1000 genomes]
rs61575136	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62191186	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62191188	0.94[EUR][1000 genomes]
rs62191189	0.89[EUR][1000 genomes]
rs62191191	0.94[EUR][1000 genomes]
rs62191192	0.94[EUR][1000 genomes]
rs62191193	0.93[EUR][1000 genomes]
rs62191196	0.94[EUR][1000 genomes]
rs62191197	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62191199	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62191200	0.94[EUR][1000 genomes]
rs62191201	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62191202	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62192161	0.87[EUR][1000 genomes]
rs62193138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62193140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62193141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62193142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62193143	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62193147	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7576496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7591582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989792	0.88[ASN][1000 genomes]
rs9989808	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231085000-231094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:231086400-231095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:231089800-231092200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:231089800-231093200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr2:231090000-231092600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:231090200-231093800	Active TSS	Primary B cells from peripheral blood	blood
7	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
8	chr2:231090400-231092200	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr2:231090400-231093200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:231090400-231093200	Active TSS	Duodenum Mucosa	Duodenum
11	chr2:231090800-231092200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:231090800-231092600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:231091000-231092800	Weak transcription	Colonic Mucosa	Colon
14	chr2:231091000-231094800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:231091000-231102600	Weak transcription	Small Intestine	intestine
16	chr2:231091400-231094000	Enhancers	Primary T cells from cord blood	blood
17	chr2:231091600-231094000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr2:231091800-231092200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr2:231091800-231092200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:231091800-231092200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:231091800-231092200	Enhancers	Esophagus	oesophagus
22	chr2:231091800-231092200	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:231091800-231092200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:231091800-231092400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr2:231091800-231092400	Bivalent Enhancer	HepG2	liver
26	chr2:231091800-231092600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:231091800-231092600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:231091800-231093400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr2:231092000-231092200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:231092000-231092200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr2:231092000-231092200	ZNF genes & repeats	Pancreas	Pancrea
32	chr2:231092000-231092400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:231092000-231094600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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