Variant report

Variant	rs2190087
Chromosome Location	chr7:139649561-139649562
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	MAFK	chr7:139649555-139649684	K562	blood:	n/a	chr7:139649588-139649603
2	FOXA1	chr7:139649450-139649770	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:139649431-139649771	HepG2	liver:	n/a	n/a
4	MAFK	chr7:139649430-139649763	HepG2	liver:	n/a	chr7:139649588-139649603
5	JUND	chr7:139649551-139649742	K562	blood:	n/a	chr7:139649587-139649598
6	MAFK	chr7:139649434-139649683	IMR90	lung:	n/a	chr7:139649588-139649603
7	MAFF	chr7:139649449-139649749	HepG2	liver:	n/a	chr7:139649587-139649605
8	FOSL2	chr7:139649348-139649799	MCF-7	breast:	n/a	n/a
9	FOXA2	chr7:139649500-139649810	A549	lung:	n/a	n/a
10	FOSL2	chr7:139649431-139649801	HepG2	liver:	n/a	n/a
11	MAFF	chr7:139649536-139649700	K562	blood:	n/a	chr7:139649587-139649605
12	FOXA2	chr7:139649480-139649723	HepG2	liver:	n/a	n/a
13	RCOR1	chr7:139649523-139649727	K562	blood:	n/a	n/a
14	JUND	chr7:139649440-139649687	HepG2	liver:	n/a	chr7:139649587-139649598
15	MAFK	chr7:139649445-139649768	HepG2	liver:	n/a	chr7:139649588-139649603
16	FOXA1	chr7:139649429-139649774	HepG2	liver:	n/a	n/a
17	FOSL2	chr7:139649326-139649789	A549	lung:	n/a	n/a
18	FOXA2	chr7:139649422-139649758	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:139644357..139647303-chr7:139647487..139650390,4	K562	blood:
2	chr7:139648168..139649794-chr7:139652428..139654980,2	K562	blood:
3	chr7:139649248..139651136-chr7:139659607..139661310,2	MCF-7	breast:
4	chr7:139595708..139599443-chr7:139649328..139652268,3	MCF-7	breast:
5	chr7:139647807..139650968-chr7:139651691..139656029,5	K562	blood:

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1003816	0.85[CHB][hapmap]
rs1034791	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666944	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1557967	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs2008582	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014454	1.00[ASN][1000 genomes]
rs2107901	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2158668	0.93[ASN][1000 genomes]
rs2284207	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2284208	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284209	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284210	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2299894	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4140996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42335	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs4629769	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4725560	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4725563	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs4726473	0.93[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4726477	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740148	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757759	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757760	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886697	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917147	0.86[CHB][hapmap];0.80[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139634000-139656800	Weak transcription	Thymus	Thymus
2	chr7:139645800-139653000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:139646800-139651400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:139646800-139658600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:139647000-139654800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:139647000-139660600	Weak transcription	K562	blood
7	chr7:139647400-139651200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:139647600-139652800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:139647600-139653200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:139648400-139649600	Enhancers	HepG2	liver
11	chr7:139648400-139651200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:139648400-139655200	Weak transcription	Spleen	Spleen
13	chr7:139649200-139650000	Enhancers	A549	lung
14	chr7:139649400-139651000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:139649400-139651400	Enhancers	Stomach Mucosa	stomach

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