Variant report

Variant	rs1469486
Chromosome Location	chr7:117219835-117219836
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	7:115861595-115870968..7:117216968-117220729	H1-hESC	embryonic stem cell:	embryo
2	chr7:117212776..117215963-chr7:117216725..117220462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1029396	0.81[CEU][hapmap]
rs10487365	0.81[CEU][hapmap]
rs10487369	0.84[ASN][1000 genomes]
rs10953843	0.81[CEU][hapmap]
rs10953847	0.88[ASN][1000 genomes]
rs117243	0.96[ASN][1000 genomes]
rs11769166	0.81[CEU][hapmap]
rs11770639	0.84[ASN][1000 genomes]
rs12533524	0.88[ASN][1000 genomes]
rs12534186	0.81[CEU][hapmap]
rs12535986	0.81[CEU][hapmap]
rs12538252	0.84[ASN][1000 genomes]
rs12673260	0.81[ASN][1000 genomes]
rs1429566	0.84[ASN][1000 genomes]
rs1557630	0.81[ASN][1000 genomes]
rs1820871	0.82[ASN][1000 genomes]
rs1896886	0.90[ASN][1000 genomes]
rs1896887	0.90[ASN][1000 genomes]
rs1896888	0.88[ASN][1000 genomes]
rs2027944	0.87[ASN][1000 genomes]
rs2027945	0.88[ASN][1000 genomes]
rs2027946	0.82[ASN][1000 genomes]
rs2078753	0.95[ASN][1000 genomes]
rs2082056	0.99[ASN][1000 genomes]
rs213934	0.93[ASN][1000 genomes]
rs213935	0.84[ASN][1000 genomes]
rs213936	0.87[ASN][1000 genomes]
rs213937	0.87[ASN][1000 genomes]
rs213942	0.84[ASN][1000 genomes]
rs213943	0.84[ASN][1000 genomes]
rs213946	0.88[ASN][1000 genomes]
rs213953	0.99[ASN][1000 genomes]
rs213955	0.99[ASN][1000 genomes]
rs213956	0.98[ASN][1000 genomes]
rs213957	0.98[ASN][1000 genomes]
rs213958	0.98[ASN][1000 genomes]
rs213961	0.96[ASN][1000 genomes]
rs213963	0.97[ASN][1000 genomes]
rs213964	0.97[ASN][1000 genomes]
rs213965	0.97[ASN][1000 genomes]
rs213966	0.97[ASN][1000 genomes]
rs213967	0.97[ASN][1000 genomes]
rs213968	0.97[ASN][1000 genomes]
rs213970	0.96[ASN][1000 genomes]
rs213971	0.96[ASN][1000 genomes]
rs213973	0.96[ASN][1000 genomes]
rs213974	0.96[ASN][1000 genomes]
rs2188159	0.83[ASN][1000 genomes]
rs2237721	0.81[CEU][hapmap];0.80[ASN][1000 genomes]
rs2237723	0.80[ASN][1000 genomes]
rs2237724	0.83[ASN][1000 genomes]
rs2237725	0.81[CEU][hapmap];0.86[ASN][1000 genomes]
rs2237726	0.81[CEU][hapmap]
rs2254742	0.81[CEU][hapmap]
rs2283054	0.81[CEU][hapmap]
rs2283056	0.81[ASN][1000 genomes]
rs2283057	0.90[ASN][1000 genomes]
rs2283058	0.81[CEU][hapmap]
rs2299445	0.81[CEU][hapmap]
rs2402204	0.83[ASN][1000 genomes]
rs2402205	0.83[ASN][1000 genomes]
rs2402228	0.99[ASN][1000 genomes]
rs2518873	0.99[ASN][1000 genomes]
rs34456592	0.86[ASN][1000 genomes]
rs34683806	0.84[ASN][1000 genomes]
rs34855237	0.88[ASN][1000 genomes]
rs35388491	0.83[ASN][1000 genomes]
rs35608825	0.84[ASN][1000 genomes]
rs3808183	0.81[CEU][hapmap];0.96[ASN][1000 genomes]
rs3808184	1.00[ASN][1000 genomes]
rs3808185	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808186	0.84[ASN][1000 genomes]
rs4148682	0.81[CEU][hapmap]
rs4148687	0.81[ASN][1000 genomes]
rs4148689	0.83[ASN][1000 genomes]
rs4148690	0.81[ASN][1000 genomes]
rs4148692	0.82[ASN][1000 genomes]
rs4148696	0.84[ASN][1000 genomes]
rs4148697	0.84[ASN][1000 genomes]
rs4148698	0.81[CEU][hapmap];0.83[ASN][1000 genomes]
rs4148699	0.85[ASN][1000 genomes]
rs4148703	0.81[CEU][hapmap];0.86[ASN][1000 genomes]
rs4148706	0.88[ASN][1000 genomes]
rs4148709	0.81[CEU][hapmap];0.98[ASN][1000 genomes]
rs4148711	0.98[ASN][1000 genomes]
rs4148713	0.95[ASN][1000 genomes]
rs4148724	0.81[CEU][hapmap]
rs4730786	0.81[CEU][hapmap]
rs6466614	0.98[ASN][1000 genomes]
rs6949974	0.96[ASN][1000 genomes]
rs6951141	0.83[ASN][1000 genomes]
rs6957317	0.83[ASN][1000 genomes]
rs6969138	0.85[ASN][1000 genomes]
rs6977764	0.84[ASN][1000 genomes]
rs6979185	0.81[CEU][hapmap]
rs6979652	0.96[ASN][1000 genomes]
rs718829	0.98[ASN][1000 genomes]
rs725188	0.82[ASN][1000 genomes]
rs739378	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs756665	0.81[ASN][1000 genomes]
rs7784537	0.80[CEU][hapmap]
rs7786196	0.83[ASN][1000 genomes]
rs7793127	0.81[ASN][1000 genomes]
rs7797932	0.81[CEU][hapmap]
rs7803222	0.87[ASN][1000 genomes]
rs7808424	0.81[CEU][hapmap]
rs885993	0.81[ASN][1000 genomes]
rs957461	0.84[ASN][1000 genomes]
rs980574	0.83[ASN][1000 genomes]

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	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	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
4	nsv889081	chr7:117203417-117238379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889082	chr7:117203417-117246315	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv889083	chr7:117203417-117256374	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv889084	chr7:117212723-117246315	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv889085	chr7:117214089-117246315	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv889086	chr7:117214089-117252873	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117208600-117232400	Weak transcription	Pancreas	Pancrea
2	chr7:117213600-117220400	Weak transcription	A549	lung
3	chr7:117214000-117228000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:117214400-117228000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:117216800-117235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:117217200-117226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:117217400-117222000	Weak transcription	Fetal Intestine Large	intestine
8	chr7:117217400-117222800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:117218400-117228000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:117218800-117221800	Weak transcription	Fetal Intestine Small	intestine

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