Variant report

Variant	rs62193138
Chromosome Location	chr2:231095166-231095167
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	E2F4	chr2:231094922-231095167	MCF10A-Er-Src	breast:	n/a	n/a
2	RUNX3	chr2:231094797-231095463	GM12878	blood:	n/a	n/a
3	MAFK	chr2:231094829-231095189	H1-hESC	embryonic stem cell:	n/a	chr2:231094925-231094940 chr2:231094979-231094994
4	USF1	chr2:231095051-231095259	SK-N-SH_RA	brain:	n/a	n/a
5	USF1	chr2:231094967-231095216	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr2:231094738-231095236	SK-N-SH	brain:	n/a	n/a
7	USF1	chr2:231094864-231095342	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr2:231095029-231095276	SK-N-SH	brain:	n/a	n/a
9	IKZF1	chr2:231094796-231095245	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SP110	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]
rs62193107	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231091000-231102600	Weak transcription	Small Intestine	intestine
3	chr2:231092600-231118400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:231093200-231113000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:231094000-231095200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:231094000-231095600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:231094400-231095200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:231094400-231096800	ZNF genes & repeats	GM12878-XiMat	blood
9	chr2:231094600-231095200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:231094600-231095200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:231094600-231095200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:231094600-231095400	Enhancers	NH-A	brain
13	chr2:231094600-231095600	Enhancers	HUVEC	blood vessel
14	chr2:231094600-231096000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:231094600-231096200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr2:231094600-231096400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr2:231094800-231095200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:231094800-231095200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:231094800-231095200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:231094800-231095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:231094800-231095200	Enhancers	Dnd41	blood
22	chr2:231094800-231095200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:231094800-231095400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:231094800-231095400	Enhancers	NHEK	skin
25	chr2:231094800-231095600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:231094800-231095600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:231094800-231095600	Enhancers	HMEC	breast
28	chr2:231094800-231095800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:231094800-231096000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr2:231094800-231096000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr2:231094800-231096000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:231094800-231096400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr2:231095000-231095400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:231095000-231095400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:231095000-231095600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr2:231095000-231095800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:231095000-231096200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:231095000-231096400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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