Variant report

Variant	rs2299519
Chromosome Location	chr7:126415495-126415496
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	7:126412827-126417966..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
2	7:126412827-126417966..7:127009457-127018926	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1008260	0.92[CEU][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10215498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10215590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10216287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10216314	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10227255	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10227949	1.00[JPT][hapmap]
rs10229765	1.00[JPT][hapmap]
rs10239010	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10241618	1.00[JPT][hapmap]
rs10250459	1.00[CEU][hapmap]
rs10252649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10254445	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs10254692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10257388	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10259217	0.85[JPT][hapmap]
rs10259229	0.85[JPT][hapmap]
rs10271146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10487457	0.85[JPT][hapmap]
rs10487459	0.85[JPT][hapmap]
rs10487460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10954133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11763603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs11763734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs11765100	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs11768413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11769307	1.00[JPT][hapmap]
rs11769459	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11769491	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs11770578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs11773772	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12333442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12333645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12706742	1.00[JPT][hapmap]
rs12706745	0.85[JPT][hapmap]
rs12706746	1.00[JPT][hapmap]
rs12706747	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13222700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs13224779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs13225829	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13226065	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13226841	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs13236505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs13239613	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13240076	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13240418	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13242233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1361988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1361995	0.85[JPT][hapmap]
rs1361998	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1361999	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1362000	0.92[CEU][hapmap]
rs1362002	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1362004	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1362005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1419508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs1557646	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs1592370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17150172	0.85[JPT][hapmap]
rs17619947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17620189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17620525	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17626816	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627206	0.96[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17683174	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17683391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684592	0.82[JPT][hapmap]
rs17693362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1946109	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1946114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1946115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1989849	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1989850	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2023733	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs2023734	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2023735	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2106352	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2106353	0.82[JPT][hapmap]
rs2106600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2106601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2157753	0.95[GIH][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2157977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs2157978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs2157979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2214159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2283071	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs2283076	1.00[JPT][hapmap]
rs2283079	1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2299501	0.85[JPT][hapmap]
rs2299502	0.82[JPT][hapmap]
rs2299503	0.85[JPT][hapmap]
rs2299505	0.85[JPT][hapmap]
rs2299506	0.85[JPT][hapmap]
rs2299507	0.85[JPT][hapmap]
rs2299508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2299509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2299510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2299511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2299516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299520	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2896376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs34309246	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35810597	0.84[ASN][1000 genomes]
rs35825148	0.83[EUR][1000 genomes]
rs3808154	1.00[JPT][hapmap]
rs4728053	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4728054	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4728055	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731323	1.00[JPT][hapmap]
rs4731330	0.96[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731331	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731332	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467099	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6948500	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6951643	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6951771	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6969572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6975541	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6976213	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727903	1.00[CEU][hapmap]
rs7809518	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs886179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs929175	1.00[JPT][hapmap]
rs929211	1.00[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs950789	1.00[JPT][hapmap]
rs954661	0.96[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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