Variant report

Variant	rs6441995
Chromosome Location	chr3:46496340-46496341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46495712..46498114-chr3:46504861..46507290,2	K562	blood:

Variant related genes	Relation type
ENSG00000012223	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1042073	1.00[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs1126477	0.80[JPT][hapmap]
rs1126478	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11707471	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11716497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1475967	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2269435	0.97[EUR][1000 genomes]
rs2269437	0.97[EUR][1000 genomes]
rs2269438	0.97[EUR][1000 genomes]
rs2269439	0.97[EUR][1000 genomes]
rs2269440	0.96[EUR][1000 genomes]
rs2269442	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4234463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683228	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441990	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs6441992	1.00[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap]
rs6441996	0.90[JPT][hapmap]
rs6776504	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs6778559	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6787643	0.97[EUR][1000 genomes]
rs6794622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743659	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs7624071	0.97[EUR][1000 genomes]
rs9862186	0.81[CEU][hapmap]
rs9862388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46480200-46504000	Weak transcription	Lung	lung
3	chr3:46489200-46496800	Weak transcription	Adipose Nuclei	Adipose
4	chr3:46489400-46504000	Weak transcription	Right Atrium	heart
5	chr3:46492200-46501000	Weak transcription	Left Ventricle	heart
6	chr3:46492400-46501000	Weak transcription	Right Ventricle	heart
7	chr3:46492600-46497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:46494800-46497800	Strong transcription	Gastric	stomach
9	chr3:46494800-46498000	Strong transcription	Pancreas	Pancrea
10	chr3:46494800-46499000	Strong transcription	Spleen	Spleen
11	chr3:46495000-46496600	Enhancers	Duodenum Mucosa	Duodenum
12	chr3:46495000-46497200	Enhancers	Fetal Intestine Large	intestine
13	chr3:46495000-46497400	Enhancers	Fetal Intestine Small	intestine
14	chr3:46495200-46497400	Enhancers	Dnd41	blood
15	chr3:46495400-46496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:46495800-46497400	Enhancers	Fetal Thymus	thymus

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