Variant report

Variant	rs4148682
Chromosome Location	chr7:117119183-117119184
allele	G/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	WRNIP1	chr7:117119162-117119461	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:117118942-117119333	H1-hESC	embryonic stem cell:	n/a	chr7:117119240-117119253
3	POLR2A	chr7:117118832-117119865	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr7:117118797-117119304	H1-hESC	embryonic stem cell:	n/a	chr7:117119094-117119105 chr7:117119094-117119110
5	SIN3A	chr7:117118979-117120368	H1-hESC	embryonic stem cell:	n/a	chr7:117119735-117119744 chr7:117119738-117119749
6	BACH1	chr7:117119099-117119801	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:117114628-117119361..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
2	7:116610596-116619447..7:117114628-117119361	H1-hESC	embryonic stem cell:	embryo
3	7:117114628-117119361..7:117341506-117356953	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
CFTR	TF binding region
ENSG00000213050	Chromatin interaction
ENSG00000001626	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10249651	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1029396	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1042077	0.81[CHB][hapmap]
rs10487365	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs10487368	0.86[CHB][hapmap]
rs10487369	0.86[CHB][hapmap]
rs10953841	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs10953843	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10953844	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953845	0.83[ASN][1000 genomes]
rs10953846	0.85[ASN][1000 genomes]
rs10953847	0.86[CHB][hapmap]
rs11769166	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12333572	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs12534186	1.00[CEU][hapmap]
rs12535986	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs12537601	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12538252	0.86[CHB][hapmap]
rs12673260	0.86[CHB][hapmap]
rs13222797	0.90[ASN][1000 genomes]
rs13245795	0.91[ASN][1000 genomes]
rs1429566	0.86[CHB][hapmap]
rs1469486	0.81[CEU][hapmap]
rs1557630	0.86[CHB][hapmap]
rs177068	0.90[ASN][1000 genomes]
rs177070	0.90[ASN][1000 genomes]
rs1896886	0.86[CHB][hapmap]
rs1896887	0.86[CHB][hapmap]
rs1896888	0.86[CHB][hapmap]
rs2027944	0.86[CHB][hapmap]
rs2027945	0.86[CHB][hapmap]
rs2027946	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2051714	0.85[EUR][1000 genomes]
rs2051718	0.91[CHB][hapmap]
rs2078967	0.91[ASN][1000 genomes]
rs213935	0.86[CHB][hapmap]
rs213936	0.86[CHB][hapmap]
rs213942	0.86[CHB][hapmap]
rs213943	0.86[CHB][hapmap]
rs213946	0.86[CHB][hapmap]
rs213950	0.86[CHB][hapmap]
rs2157946	0.91[CHB][hapmap]
rs2188158	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2188159	0.86[CHB][hapmap]
rs2188555	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2237721	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];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2237722	0.86[CHB][hapmap]
rs2237723	0.86[CHB][hapmap]
rs2237724	0.86[CHB][hapmap]
rs2237725	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[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]
rs2283054	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]
rs2283055	0.85[CHB][hapmap]
rs2283056	0.86[CHB][hapmap]
rs2283057	0.86[CHB][hapmap]
rs2283058	1.00[CEU][hapmap]
rs2299445	1.00[CEU][hapmap]
rs254536	0.86[CHB][hapmap]
rs2896224	0.91[ASN][1000 genomes]
rs34256873	0.91[ASN][1000 genomes]
rs34456592	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3757802	0.86[CHB][hapmap]
rs3808183	1.00[CEU][hapmap]
rs3808185	0.81[CHB][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs3808186	0.86[CHB][hapmap]
rs3926643	0.91[CHB][hapmap]
rs39312	0.86[CHB][hapmap]
rs39315	0.86[CHB][hapmap]
rs39317	0.86[CHB][hapmap]
rs39324	0.86[CHB][hapmap]
rs4148686	0.86[CHB][hapmap]
rs4148687	0.86[CHB][hapmap]
rs4148688	0.86[CHB][hapmap]
rs4148689	0.86[CHB][hapmap]
rs4148690	0.86[CHB][hapmap]
rs4148691	0.86[CHB][hapmap]
rs4148692	0.86[CHB][hapmap]
rs4148696	0.86[CHB][hapmap]
rs4148697	0.86[CHB][hapmap]
rs4148698	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148699	0.86[CHB][hapmap]
rs4148703	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]
rs4148706	0.86[CHB][hapmap]
rs4148709	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4148724	1.00[CEU][hapmap]
rs43025	0.95[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs43026	0.87[ASN][1000 genomes]
rs43027	0.91[ASN][1000 genomes]
rs43028	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs43029	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs43030	0.91[ASN][1000 genomes]
rs43031	0.90[ASN][1000 genomes]
rs43032	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs43033	0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs43034	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs43035	0.94[ASN][1000 genomes]
rs43036	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4458806	0.89[ASN][1000 genomes]
rs4727849	0.91[CHB][hapmap]
rs4727850	0.83[CEU][hapmap];0.83[ASN][1000 genomes]
rs4727851	0.86[CHB][hapmap]
rs4730778	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs4730786	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466611	0.91[CHB][hapmap]
rs6466613	0.86[CHB][hapmap]
rs6466614	0.83[EUR][1000 genomes]
rs6957317	0.86[CHB][hapmap]
rs6960356	0.91[CHB][hapmap]
rs6966838	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs6969138	0.86[CHB][hapmap]
rs6972168	0.89[ASN][1000 genomes]
rs6977764	0.86[CHB][hapmap]
rs6979185	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs713134	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs72603594	0.97[EUR][1000 genomes]
rs72603595	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs739517	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs756665	0.86[CHB][hapmap]
rs7784156	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs7793127	0.86[CHB][hapmap]
rs7797163	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7797932	1.00[CEU][hapmap]
rs7803222	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7805063	0.86[CHB][hapmap]
rs7808424	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7810506	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs885993	0.86[CHB][hapmap]
rs957461	0.81[CHB][hapmap]
rs9792104	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs980574	0.86[CHB][hapmap]
rs989727	0.94[EUR][1000 genomes]
rs994996	0.86[CHB][hapmap]

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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117113200-117119200	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:117118200-117121000	Weak transcription	Hela-S3	cervix
3	chr7:117118400-117120400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:117118400-117124400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:117118600-117119200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr7:117118600-117119600	Active TSS	Fetal Intestine Large	intestine
7	chr7:117118600-117120000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:117118600-117121200	Active TSS	Colonic Mucosa	Colon
9	chr7:117118600-117122800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:117118600-117123200	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:117118800-117119200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr7:117118800-117119200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr7:117118800-117119600	Active TSS	Pancreas	Pancrea
14	chr7:117118800-117119800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:117118800-117120400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr7:117118800-117120400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:117118800-117120600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:117118800-117121200	Active TSS	Rectal Smooth Muscle	rectum
19	chr7:117118800-117123200	Active TSS	Fetal Intestine Small	intestine
20	chr7:117119000-117119200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr7:117119000-117119200	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr7:117119000-117119200	Active TSS	Fetal Lung	lung
23	chr7:117119000-117119400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:117119000-117119400	Active TSS	Brain Angular Gyrus	brain
25	chr7:117119000-117119600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:117119000-117119600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:117119000-117119600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:117119000-117119800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr7:117119000-117120000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
30	chr7:117119000-117120200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:117119000-117120200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr7:117119000-117120400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:117119000-117120400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:117119000-117120400	Active TSS	Esophagus	oesophagus
35	chr7:117119000-117120400	Active TSS	Stomach Mucosa	stomach
36	chr7:117119000-117120600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:117119000-117120600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:117119000-117120600	Active TSS	Brain Anterior Caudate	brain
39	chr7:117119000-117120600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:117119000-117120600	Active TSS	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links