Variant report

Variant	rs4143949
Chromosome Location	chr14:56703628-56703629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10150333	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11158082	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1117310	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1382973	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1479752	1.00[YRI][hapmap]
rs173352	0.83[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1979420	1.00[YRI][hapmap]
rs2054491	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054492	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2086326	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242578	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs242579	0.80[YRI][hapmap]
rs242583	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs242590	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs242591	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs375156	0.82[YRI][hapmap]
rs3783675	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3844020	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs3912201	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7140444	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140808	0.82[YRI][hapmap]
rs7145330	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7151741	0.96[CHB][hapmap];0.92[JPT][hapmap]
rs7153057	0.82[YRI][hapmap]
rs754689	1.00[YRI][hapmap]
rs899603	1.00[YRI][hapmap]
rs899604	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56688000-56707800	Weak transcription	Spleen	Spleen
2	chr14:56689600-56710000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:56692400-56710000	Weak transcription	Fetal Stomach	stomach
5	chr14:56693000-56704000	Weak transcription	Primary T cells from cord blood	blood
6	chr14:56693200-56724400	Weak transcription	Gastric	stomach
7	chr14:56694000-56723000	Weak transcription	Lung	lung
8	chr14:56696000-56706400	Weak transcription	Thymus	Thymus
9	chr14:56696000-56715600	Weak transcription	Fetal Thymus	thymus
10	chr14:56702400-56706400	Weak transcription	Pancreas	Pancrea
11	chr14:56702600-56717600	Weak transcription	Ovary	ovary
12	chr14:56703000-56703800	Enhancers	Aorta	Aorta
13	chr14:56703000-56704200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr14:56703000-56704400	Enhancers	Dnd41	blood
15	chr14:56703000-56704600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:56703200-56704800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:56703200-56704800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr14:56703200-56706800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:56703600-56704400	Enhancers	Primary hematopoietic stem cells	blood
20	chr14:56703600-56704400	Enhancers	Left Ventricle	heart
21	chr14:56703600-56704600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:56703600-56704600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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