Variant report

Variant	rs2283054
Chromosome Location	chr7:117126401-117126402
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	JUND	chr7:117126214-117126524	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117125349..117127629-chr7:117128449..117131310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237974	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10249651	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1029396	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1042077	0.85[CHB][hapmap]
rs10487365	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10487368	0.91[CHB][hapmap]
rs10487369	0.91[CHB][hapmap]
rs10953841	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs10953843	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953844	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10953845	0.84[ASN][1000 genomes]
rs10953846	0.87[ASN][1000 genomes]
rs10953847	0.91[CHB][hapmap]
rs117243	0.80[CHB][hapmap]
rs11769166	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12333572	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs12534186	1.00[CEU][hapmap]
rs12535986	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12537601	1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12538252	0.90[CHB][hapmap]
rs12673260	0.91[CHB][hapmap]
rs13222797	0.89[ASN][1000 genomes]
rs13245795	0.89[ASN][1000 genomes]
rs1429566	0.91[CHB][hapmap]
rs1469486	0.81[CEU][hapmap]
rs1557630	0.90[CHB][hapmap]
rs177068	0.89[ASN][1000 genomes]
rs177070	0.89[ASN][1000 genomes]
rs1896886	0.91[CHB][hapmap]
rs1896887	0.91[CHB][hapmap]
rs1896888	0.91[CHB][hapmap]
rs2027944	0.91[CHB][hapmap]
rs2027945	0.91[CHB][hapmap]
rs2027946	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2051714	0.85[EUR][1000 genomes]
rs2051718	0.95[CHB][hapmap]
rs2078967	0.89[ASN][1000 genomes]
rs213935	0.91[CHB][hapmap]
rs213936	0.91[CHB][hapmap]
rs213942	0.91[CHB][hapmap]
rs213943	0.90[CHB][hapmap]
rs213946	0.91[CHB][hapmap]
rs213950	0.91[CHB][hapmap]
rs213953	0.81[CHB][hapmap]
rs213955	0.81[CHB][hapmap]
rs213956	0.81[CHB][hapmap]
rs213963	0.80[CHB][hapmap]
rs213964	0.81[CHB][hapmap]
rs213965	0.81[CHB][hapmap]
rs213966	0.81[CHB][hapmap]
rs213967	0.81[CHB][hapmap]
rs213968	0.80[CHB][hapmap]
rs213971	0.81[CHB][hapmap]
rs2157946	0.95[CHB][hapmap]
rs2188158	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2188159	0.91[CHB][hapmap]
rs2188555	0.91[CHB][hapmap]
rs2237721	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2237722	0.91[CHB][hapmap]
rs2237723	0.91[CHB][hapmap]
rs2237724	0.91[CHB][hapmap]
rs2237725	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237726	1.00[CEU][hapmap]
rs2239957	0.82[EUR][1000 genomes]
rs2254742	1.00[CEU][hapmap]
rs2283055	0.90[CHB][hapmap]
rs2283056	0.91[CHB][hapmap]
rs2283057	0.91[CHB][hapmap]
rs2283058	1.00[CEU][hapmap]
rs2299445	1.00[CEU][hapmap]
rs2402228	0.81[CHB][hapmap]
rs2518873	0.81[CHB][hapmap]
rs254536	0.91[CHB][hapmap]
rs2896224	0.89[ASN][1000 genomes]
rs34256873	0.90[ASN][1000 genomes]
rs34456592	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3757802	0.91[CHB][hapmap]
rs3808183	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs3808184	0.81[CHB][hapmap]
rs3808185	0.85[CHB][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs3808186	0.91[CHB][hapmap]
rs3926643	0.95[CHB][hapmap]
rs39312	0.91[CHB][hapmap]
rs39315	0.91[CHB][hapmap]
rs39317	0.91[CHB][hapmap]
rs39324	0.91[CHB][hapmap]
rs4148682	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148686	0.91[CHB][hapmap]
rs4148687	0.91[CHB][hapmap]
rs4148688	0.91[CHB][hapmap]
rs4148689	0.91[CHB][hapmap]
rs4148690	0.91[CHB][hapmap]
rs4148691	0.91[CHB][hapmap]
rs4148692	0.91[CHB][hapmap]
rs4148696	0.91[CHB][hapmap]
rs4148697	0.91[CHB][hapmap]
rs4148698	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148699	0.91[CHB][hapmap]
rs4148703	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148706	0.90[CHB][hapmap]
rs4148709	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4148711	0.81[CHB][hapmap]
rs4148713	0.80[AFR][1000 genomes]
rs4148724	1.00[CEU][hapmap]
rs43025	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs43026	0.85[ASN][1000 genomes]
rs43027	0.90[ASN][1000 genomes]
rs43028	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs43029	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs43030	0.89[ASN][1000 genomes]
rs43031	0.89[ASN][1000 genomes]
rs43032	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs43033	0.82[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs43034	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs43035	0.93[ASN][1000 genomes]
rs43036	0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4458806	0.88[ASN][1000 genomes]
rs4727849	0.95[CHB][hapmap]
rs4727850	0.83[CEU][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs4727851	0.91[CHB][hapmap]
rs4730778	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap]
rs4730786	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466611	0.95[CHB][hapmap]
rs6466613	0.91[CHB][hapmap]
rs6466614	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6949974	0.81[CHB][hapmap]
rs6957317	0.91[CHB][hapmap]
rs6960356	0.95[CHB][hapmap]
rs6966838	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs6969138	0.91[CHB][hapmap]
rs6972168	0.88[ASN][1000 genomes]
rs6977764	0.91[CHB][hapmap]
rs6979185	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs713134	0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs718829	0.81[CHB][hapmap]
rs72603594	0.97[EUR][1000 genomes]
rs72603595	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs739517	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs756665	0.91[CHB][hapmap]
rs7784156	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs7793127	0.91[CHB][hapmap]
rs7797163	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7797932	1.00[CEU][hapmap]
rs7803222	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7805063	0.91[CHB][hapmap]
rs7808424	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810506	0.95[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs885993	0.91[CHB][hapmap]
rs957461	0.86[CHB][hapmap]
rs9792104	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs980574	0.91[CHB][hapmap]
rs989727	0.94[EUR][1000 genomes]
rs994996	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs994997	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889076	chr7:117064625-117147547	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117122400-117127800	Enhancers	Fetal Intestine Large	intestine
2	chr7:117124000-117132200	Enhancers	Fetal Intestine Small	intestine
3	chr7:117124200-117127400	Enhancers	Dnd41	blood
4	chr7:117125000-117126600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:117125000-117126600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:117125000-117126800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:117125000-117128000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:117125200-117126800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:117125600-117129000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:117126000-117126600	Enhancers	Colonic Mucosa	Colon
11	chr7:117126000-117126800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:117126000-117126800	Active TSS	Pancreas	Pancrea
13	chr7:117126400-117128800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:117126400-117128800	Weak transcription	Rectal Mucosa Donor 31	rectum

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