Variant report

Variant	rs2027946
Chromosome Location	chr7:117196368-117196369
allele	C/T
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..7:117194433-117196955	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1029396	0.85[EUR][1000 genomes]
rs10487368	0.82[ASN][1000 genomes]
rs10487369	0.88[ASN][1000 genomes]
rs10953841	0.81[EUR][1000 genomes]
rs10953843	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10953844	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10953847	0.92[ASN][1000 genomes]
rs11769166	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11770639	0.87[ASN][1000 genomes]
rs12533524	0.92[ASN][1000 genomes]
rs12537601	0.85[EUR][1000 genomes]
rs12538252	0.87[ASN][1000 genomes]
rs12673260	0.85[ASN][1000 genomes]
rs13438309	0.81[ASN][1000 genomes]
rs1429566	0.87[ASN][1000 genomes]
rs1469486	0.82[ASN][1000 genomes]
rs1557630	0.85[ASN][1000 genomes]
rs1820871	0.85[ASN][1000 genomes]
rs1896886	0.90[ASN][1000 genomes]
rs1896887	0.90[ASN][1000 genomes]
rs1896888	0.92[ASN][1000 genomes]
rs2027944	0.91[ASN][1000 genomes]
rs2027945	0.92[ASN][1000 genomes]
rs2078753	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2082056	0.81[ASN][1000 genomes]
rs213935	0.87[ASN][1000 genomes]
rs213936	0.90[ASN][1000 genomes]
rs213937	0.90[ASN][1000 genomes]
rs213942	0.87[ASN][1000 genomes]
rs213943	0.87[ASN][1000 genomes]
rs213946	0.92[ASN][1000 genomes]
rs213953	0.81[ASN][1000 genomes]
rs213955	0.81[ASN][1000 genomes]
rs213957	0.80[ASN][1000 genomes]
rs213958	0.80[ASN][1000 genomes]
rs2188158	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2188159	0.86[ASN][1000 genomes]
rs2237721	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237722	0.83[ASN][1000 genomes]
rs2237723	0.84[ASN][1000 genomes]
rs2237724	0.86[ASN][1000 genomes]
rs2237725	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283054	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283055	0.83[ASN][1000 genomes]
rs2283056	0.85[ASN][1000 genomes]
rs2283057	0.90[ASN][1000 genomes]
rs2402204	0.86[ASN][1000 genomes]
rs2402205	0.86[ASN][1000 genomes]
rs2402228	0.81[ASN][1000 genomes]
rs2518873	0.81[ASN][1000 genomes]
rs34456592	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34683806	0.87[ASN][1000 genomes]
rs34855237	0.92[ASN][1000 genomes]
rs35388491	0.86[ASN][1000 genomes]
rs35608825	0.87[ASN][1000 genomes]
rs3757802	0.81[ASN][1000 genomes]
rs3808183	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808184	0.82[ASN][1000 genomes]
rs3808185	0.82[ASN][1000 genomes]
rs3808186	0.87[ASN][1000 genomes]
rs4148682	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4148686	0.83[ASN][1000 genomes]
rs4148687	0.85[ASN][1000 genomes]
rs4148688	0.83[ASN][1000 genomes]
rs4148689	0.86[ASN][1000 genomes]
rs4148690	0.85[ASN][1000 genomes]
rs4148692	0.85[ASN][1000 genomes]
rs4148696	0.87[ASN][1000 genomes]
rs4148697	0.87[ASN][1000 genomes]
rs4148698	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148699	0.89[ASN][1000 genomes]
rs4148703	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4148706	0.92[ASN][1000 genomes]
rs4148709	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148711	0.80[ASN][1000 genomes]
rs4148713	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4727850	0.83[AFR][1000 genomes]
rs4730786	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6466613	0.83[ASN][1000 genomes]
rs6466614	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6949974	0.81[ASN][1000 genomes]
rs6951141	0.86[ASN][1000 genomes]
rs6957317	0.86[ASN][1000 genomes]
rs6969138	0.89[ASN][1000 genomes]
rs6977764	0.87[ASN][1000 genomes]
rs6979185	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs718829	0.83[ASN][1000 genomes]
rs725188	0.85[ASN][1000 genomes]
rs72603594	0.85[EUR][1000 genomes]
rs72603595	0.85[EUR][1000 genomes]
rs739378	0.93[ASN][1000 genomes]
rs756665	0.84[ASN][1000 genomes]
rs7786196	0.86[ASN][1000 genomes]
rs7793127	0.85[ASN][1000 genomes]
rs7797163	0.84[EUR][1000 genomes]
rs7803222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808424	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs885993	0.84[ASN][1000 genomes]
rs957461	0.87[ASN][1000 genomes]
rs980574	0.86[ASN][1000 genomes]
rs989727	0.82[EUR][1000 genomes]

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	chr7:117181400-117213400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:117185800-117203600	Weak transcription	Fetal Intestine Large	intestine
4	chr7:117187000-117205200	Weak transcription	Stomach Mucosa	stomach
5	chr7:117193400-117205200	Weak transcription	Fetal Intestine Small	intestine
6	chr7:117195800-117201800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:117195800-117206000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:117196000-117203800	Weak transcription	Dnd41	blood

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