Variant report

Variant	rs12621585
Chromosome Location	chr2:7367041-7367042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1016515	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929471	0.83[ASN][1000 genomes]
rs10929473	0.81[ASN][1000 genomes]
rs10929474	0.81[ASN][1000 genomes]
rs11676725	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680346	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11682417	0.82[ASN][1000 genomes]
rs11695715	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612059	0.82[ASN][1000 genomes]
rs12612703	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623613	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002545	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13007890	0.84[ASN][1000 genomes]
rs13013964	0.81[ASN][1000 genomes]
rs13023691	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035063	0.84[ASN][1000 genomes]
rs1404841	0.83[ASN][1000 genomes]
rs1404842	0.82[ASN][1000 genomes]
rs1404843	0.83[ASN][1000 genomes]
rs1404844	0.83[ASN][1000 genomes]
rs1404845	0.80[ASN][1000 genomes]
rs1464879	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1464880	0.87[JPT][hapmap]
rs1473655	0.82[ASN][1000 genomes]
rs1473656	0.95[ASN][1000 genomes]
rs1474401	0.83[ASN][1000 genomes]
rs1474402	0.83[ASN][1000 genomes]
rs1474403	0.83[ASN][1000 genomes]
rs1525490	0.84[ASN][1000 genomes]
rs1525491	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1525492	0.85[ASN][1000 genomes]
rs1581562	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16866007	0.82[ASN][1000 genomes]
rs16866008	0.82[ASN][1000 genomes]
rs16866010	0.80[ASN][1000 genomes]
rs17672986	0.84[ASN][1000 genomes]
rs1880604	0.84[ASN][1000 genomes]
rs1880605	0.81[ASN][1000 genomes]
rs1917675	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1917676	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1917677	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1917680	0.84[ASN][1000 genomes]
rs2352711	0.83[ASN][1000 genomes]
rs2352713	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34130652	0.94[ASN][1000 genomes]
rs34325684	0.80[ASN][1000 genomes]
rs36034588	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233854	0.80[ASN][1000 genomes]
rs4265983	0.86[ASN][1000 genomes]
rs4356635	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4362529	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4362530	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4668526	0.84[ASN][1000 genomes]
rs4668527	0.97[ASN][1000 genomes]
rs4668531	0.82[ASN][1000 genomes]
rs4669147	0.83[ASN][1000 genomes]
rs4669148	0.84[ASN][1000 genomes]
rs4669149	0.84[ASN][1000 genomes]
rs4669150	0.84[ASN][1000 genomes]
rs4669154	0.92[ASN][1000 genomes]
rs4669155	0.92[ASN][1000 genomes]
rs4669156	0.80[ASN][1000 genomes]
rs4669157	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4669158	0.80[ASN][1000 genomes]
rs4669162	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669163	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4669164	0.84[ASN][1000 genomes]
rs4669169	0.81[ASN][1000 genomes]
rs55869666	0.87[ASN][1000 genomes]
rs55914055	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6719090	0.83[ASN][1000 genomes]
rs6732488	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6738582	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6744969	0.83[ASN][1000 genomes]
rs6745122	0.83[ASN][1000 genomes]
rs7557233	0.83[ASN][1000 genomes]
rs7559257	0.85[JPT][hapmap]
rs7607300	0.83[ASN][1000 genomes]
rs870863	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs872442	0.86[ASN][1000 genomes]
rs960793	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1000136	chr2:7337270-7379211	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv833337	chr2:7337273-7521146	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7363200-7367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:7364200-7367600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:7364400-7369600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:7365000-7368200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:7365400-7369000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:7365400-7369400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:7365600-7367600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:7366000-7369600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:7366200-7367800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:7366200-7368400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:7366400-7367600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:7366600-7367600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:7366600-7367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:7366600-7368000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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