Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177691940..177694193-chr2:177709173..177710889,2	K562	blood:

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10181816	1.00[CHB][hapmap]
rs10184702	1.00[CHB][hapmap]
rs10197209	1.00[CHB][hapmap]
rs10497573	1.00[CHB][hapmap]
rs10930765	1.00[JPT][hapmap]
rs10930767	1.00[JPT][hapmap]
rs12469347	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12616782	1.00[JPT][hapmap]
rs12693105	1.00[CHB][hapmap]
rs13005005	1.00[JPT][hapmap]
rs13421731	1.00[JPT][hapmap]
rs1355845	1.00[JPT][hapmap]
rs1437725	1.00[CHB][hapmap]
rs1513870	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1513886	1.00[CHB][hapmap]
rs1533303	1.00[CHB][hapmap]
rs1534472	1.00[CHB][hapmap]
rs1545138	1.00[CHB][hapmap]
rs16864479	1.00[CHB][hapmap]
rs16864736	1.00[JPT][hapmap]
rs17628074	1.00[JPT][hapmap]
rs17679370	1.00[JPT][hapmap]
rs1814826	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866134	1.00[JPT][hapmap]
rs2196658	0.84[ASN][1000 genomes]
rs4893917	1.00[CHB][hapmap]
rs6707899	1.00[JPT][hapmap]
rs6760271	1.00[JPT][hapmap]
rs7583729	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588841	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs840698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs840699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs840700	0.81[ASN][1000 genomes]
rs840701	0.81[ASN][1000 genomes]
rs840702	0.81[ASN][1000 genomes]
rs840703	0.81[ASN][1000 genomes]
rs840704	0.81[ASN][1000 genomes]
rs860864	0.81[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	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs840706	OLA1	cis	parietal	SCAN
rs840706	GTSF1L	trans	cerebellum	SCAN
rs840706	CHN1	cis	cerebellum	SCAN
rs840706	ZAK	cis	cerebellum	SCAN
rs840706	WIPF1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177688800-177692600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr2:177688800-177693000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:177689000-177693000	Enhancers	Primary T cells from cord blood	blood
4	chr2:177689000-177693000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:177690400-177692600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:177691600-177692600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:177691600-177692600	Weak transcription	Fetal Kidney	kidney
8	chr2:177691800-177692600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:177692200-177695000	Weak transcription	Fetal Thymus	thymus

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