Variant report

Variant	rs1372512
Chromosome Location	chr4:90810869-90810870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90806651..90808607-chr4:90809105..90812073,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10433954	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10433955	0.81[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs10516847	1.00[CEU][hapmap]
rs10516850	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516851	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516852	0.81[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516853	0.83[JPT][hapmap]
rs11722543	0.99[ASN][1000 genomes]
rs12233696	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12640573	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs12640925	0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs12640973	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs12641781	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12643790	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12643823	0.87[ASN][1000 genomes]
rs12644375	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12646270	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs1372511	1.00[ASN][1000 genomes]
rs1442131	0.90[ASN][1000 genomes]
rs1442132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016274	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs17016373	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs17016396	0.83[JPT][hapmap]
rs2241884	0.87[ASN][1000 genomes]
rs3729594	1.00[CEU][hapmap]
rs3775435	1.00[CEU][hapmap]
rs3775438	1.00[CEU][hapmap]
rs3775442	1.00[CEU][hapmap]
rs3775444	1.00[CEU][hapmap]
rs3775450	1.00[CEU][hapmap]
rs3775464	0.80[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775465	0.81[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775466	0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775467	0.81[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775473	0.86[ASN][1000 genomes]
rs3775474	0.87[ASN][1000 genomes]
rs3775476	0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775477	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775478	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3822088	1.00[CEU][hapmap]
rs3822091	1.00[CEU][hapmap]
rs3898322	1.00[CEU][hapmap]
rs56146644	0.89[ASN][1000 genomes]
rs57925841	1.00[ASN][1000 genomes]
rs58165695	0.84[EUR][1000 genomes]
rs58514521	0.89[ASN][1000 genomes]
rs58930449	0.83[ASN][1000 genomes]
rs59559279	0.98[ASN][1000 genomes]
rs60341854	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60847430	0.89[ASN][1000 genomes]
rs61160271	0.87[ASN][1000 genomes]
rs61611959	0.82[ASN][1000 genomes]
rs6532197	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6532199	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6532200	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6828095	1.00[ASN][1000 genomes]
rs6838943	0.90[ASN][1000 genomes]
rs6847403	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6848022	1.00[ASN][1000 genomes]
rs6857668	0.84[ASN][1000 genomes]
rs6858182	0.86[ASN][1000 genomes]
rs72657800	0.90[ASN][1000 genomes]
rs72657801	0.89[ASN][1000 genomes]
rs72657802	0.89[ASN][1000 genomes]
rs72659403	0.89[ASN][1000 genomes]
rs72659404	0.89[ASN][1000 genomes]
rs72659409	0.87[ASN][1000 genomes]
rs72659413	0.83[ASN][1000 genomes]
rs73831836	1.00[ASN][1000 genomes]
rs73831856	0.84[ASN][1000 genomes]
rs7657014	0.94[ASN][1000 genomes]
rs7666981	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7673735	1.00[ASN][1000 genomes]
rs961386	1.00[CEU][hapmap]

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	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv997700	chr4:90791866-90920021	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830005	chr4:90799398-90963420	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:90809000-90813800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:90809200-90815400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:90810000-90811000	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:90810000-90811400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:90810200-90811000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:90810200-90811000	Enhancers	Fetal Heart	heart
7	chr4:90810400-90811000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:90810400-90811000	Flanking Active TSS	HUVEC	blood vessel
9	chr4:90810400-90811000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr4:90810800-90811400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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