Variant report

Variant	rs7594496
Chromosome Location	chr2:168174590-168174591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10186558	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10189334	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10192896	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10803821	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10803822	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930264	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10930265	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12105767	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1357598	0.83[AFR][1000 genomes]
rs1357599	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1403894	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1403900	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1403901	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1523878	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1540820	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1540821	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1540822	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1581484	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1581485	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1589728	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1608518	0.83[ASN][1000 genomes]
rs1851758	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1851759	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1851760	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1916742	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1916746	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916747	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2103098	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2140501	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2177441	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2177442	0.81[EUR][1000 genomes]
rs2617368	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2689823	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2689842	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927600	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4538166	0.89[EUR][1000 genomes]
rs57797869	0.89[EUR][1000 genomes]
rs58013803	0.89[EUR][1000 genomes]
rs60102532	0.89[EUR][1000 genomes]
rs61529696	0.89[EUR][1000 genomes]
rs6726067	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743941	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6746887	0.80[EUR][1000 genomes]
rs73972228	0.89[EUR][1000 genomes]
rs73972230	0.89[EUR][1000 genomes]
rs7593641	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9287881	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9751663	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9751666	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][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	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2763488	chr2:168163136-168181440	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168167000-168175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:168167400-168174800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:168167800-168175200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:168173800-168174800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:168174000-168174600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:168174000-168174800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:168174000-168175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:168174000-168175800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr2:168174000-168176000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr2:168174200-168179400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:168174400-168175200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:168174400-168176000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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