Variant report

Variant	rs4148703
Chromosome Location	chr7:117181509-117181510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115847372-115857098..7:117179549-117182665	H1-hESC	embryonic stem cell:	embryo
2	chr7:117180519..117183145-chr7:117187916..117190717,2	K562	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10249651	0.81[CHB][hapmap]
rs1029396	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs1042077	0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap]
rs10487365	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10487368	1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10487369	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10953841	0.86[EUR][1000 genomes]
rs10953843	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10953844	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10953847	1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.96[ASN][1000 genomes]
rs117243	0.90[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs11769166	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11770639	0.95[ASN][1000 genomes]
rs12333572	0.81[CHB][hapmap]
rs12533524	0.96[ASN][1000 genomes]
rs12534186	1.00[CEU][hapmap]
rs12535986	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12537601	1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs12538252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12673260	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs13438309	0.88[ASN][1000 genomes]
rs1429566	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1469486	0.81[CEU][hapmap];0.86[ASN][1000 genomes]
rs1557630	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1820871	0.89[ASN][1000 genomes]
rs1896886	1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1896887	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1896888	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2027944	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2027945	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2027946	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2051718	0.86[CHB][hapmap]
rs2078753	0.85[ASN][1000 genomes]
rs2082056	0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs213934	0.86[CHB][hapmap];0.84[CHD][hapmap];0.80[ASN][1000 genomes]
rs213935	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs213936	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs213937	0.98[ASN][1000 genomes]
rs213942	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs213943	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs213946	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs213950	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs213953	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs213955	0.91[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs213956	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs213957	0.84[ASN][1000 genomes]
rs213958	0.84[ASN][1000 genomes]
rs213961	0.82[ASN][1000 genomes]
rs213963	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs213964	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs213965	0.91[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs213966	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs213967	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs213968	0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs213970	0.83[ASN][1000 genomes]
rs213971	0.91[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs213973	0.83[ASN][1000 genomes]
rs213974	0.83[ASN][1000 genomes]
rs2157946	0.86[CHB][hapmap]
rs2188158	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2188159	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2188555	0.81[CHB][hapmap]
rs2237721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[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];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237722	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2237723	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2237724	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs2237725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237726	1.00[CEU][hapmap]
rs2254742	1.00[CEU][hapmap]
rs2283054	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]
rs2283055	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2283056	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2283057	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2283058	1.00[CEU][hapmap]
rs2299445	1.00[CEU][hapmap]
rs2402204	0.93[ASN][1000 genomes]
rs2402205	0.93[ASN][1000 genomes]
rs2402228	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2518873	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs34456592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34683806	0.95[ASN][1000 genomes]
rs34855237	0.96[ASN][1000 genomes]
rs35388491	0.93[ASN][1000 genomes]
rs35608825	0.95[ASN][1000 genomes]
rs3757802	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3808183	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808184	0.91[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3808185	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.86[ASN][1000 genomes]
rs3808186	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs3926643	0.85[CHB][hapmap]
rs4148682	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148686	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4148687	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4148688	1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4148689	1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4148690	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4148691	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4148692	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4148696	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs4148697	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs4148698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4148699	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs4148706	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs4148709	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4148711	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs4148713	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4148724	1.00[CEU][hapmap]
rs43025	0.81[CHB][hapmap]
rs43028	0.81[CHB][hapmap]
rs43029	0.81[CHB][hapmap]
rs43032	0.81[CHB][hapmap]
rs43034	0.81[CHB][hapmap]
rs43036	0.81[CHB][hapmap]
rs4727849	0.86[CHB][hapmap]
rs4727850	0.83[CEU][hapmap];0.82[YRI][hapmap]
rs4727851	0.81[CHB][hapmap]
rs4730778	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap]
rs4730786	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6466611	0.86[CHB][hapmap]
rs6466613	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6466614	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6949974	0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6951141	0.93[ASN][1000 genomes]
rs6957317	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6960356	0.86[CHB][hapmap]
rs6966838	0.90[CHB][hapmap]
rs6969138	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6977764	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6979185	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6979652	0.83[ASN][1000 genomes]
rs713134	0.81[CHB][hapmap]
rs718829	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs725188	0.92[ASN][1000 genomes]
rs72603594	0.91[EUR][1000 genomes]
rs72603595	0.91[EUR][1000 genomes]
rs739378	0.97[ASN][1000 genomes]
rs756665	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7784156	0.81[CHB][hapmap]
rs7784537	1.00[CEU][hapmap]
rs7786196	0.93[ASN][1000 genomes]
rs7793127	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7797163	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7797932	1.00[CEU][hapmap]
rs7803222	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7805063	0.81[CHB][hapmap]
rs7808424	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7810506	0.86[CHB][hapmap]
rs885993	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs957461	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9792104	0.81[CHB][hapmap]
rs980574	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs989727	0.88[EUR][1000 genomes]
rs994996	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889077	chr7:117129404-117238379	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv889078	chr7:117135025-117246315	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv889079	chr7:117156341-117199533	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1800675	chr7:117159386-117204462	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889080	chr7:117176248-117238379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117173000-117208000	Weak transcription	Pancreas	Pancrea
2	chr7:117177600-117185800	Strong transcription	Duodenum Mucosa	Duodenum
3	chr7:117179200-117182400	Weak transcription	Colonic Mucosa	Colon
4	chr7:117179200-117182600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:117179200-117183600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:117179200-117191800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:117180000-117181800	Strong transcription	Fetal Intestine Large	intestine
8	chr7:117181400-117213400	Weak transcription	Rectal Mucosa Donor 29	rectum

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