Variant report

Variant	rs3783675
Chromosome Location	chr14:56692524-56692525
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	chr14:56686325..56689607-chr14:56690528..56694792,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10150333	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs11158082	0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1117310	0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1382973	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs173352	0.83[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2054491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054492	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2086326	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242578	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs242583	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3844020	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes]
rs3912201	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs4143949	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]
rs7140444	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7145330	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7151741	0.96[CHB][hapmap];0.87[JPT][hapmap]
rs899604	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
4	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:56684400-56692600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:56686800-56694200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:56686800-56702000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:56687800-56694800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:56688000-56707800	Weak transcription	Spleen	Spleen
10	chr14:56688200-56694200	Weak transcription	Left Ventricle	heart
11	chr14:56688400-56694200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:56688800-56695400	Weak transcription	Fetal Thymus	thymus
13	chr14:56689200-56694200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:56689600-56692800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:56689600-56694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:56689600-56695200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:56689600-56695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:56689600-56699200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:56689600-56710000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:56690000-56693000	Weak transcription	Esophagus	oesophagus
22	chr14:56690600-56692600	Enhancers	Fetal Brain Male	brain
23	chr14:56690800-56692800	Enhancers	Stomach Mucosa	stomach
24	chr14:56691000-56692600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:56691000-56692600	Enhancers	Ovary	ovary
26	chr14:56691000-56692600	Enhancers	Small Intestine	intestine
27	chr14:56691000-56692600	Flanking Active TSS	A549	lung
28	chr14:56691400-56693000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:56691600-56692600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:56691600-56692600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr14:56691600-56693000	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr14:56691600-56693200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:56691600-56693200	Enhancers	Gastric	stomach
34	chr14:56691600-56693200	Strong transcription	Dnd41	blood
35	chr14:56691600-56693400	Enhancers	Pancreas	Pancrea
36	chr14:56691800-56692600	Weak transcription	Fetal Kidney	kidney
37	chr14:56691800-56696000	Strong transcription	Thymus	Thymus
38	chr14:56692000-56696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:56692200-56692600	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:56692200-56693000	Strong transcription	Primary T cells from cord blood	blood
41	chr14:56692200-56694400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:56692400-56692600	Enhancers	HepG2	liver
43	chr14:56692400-56693000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
44	chr14:56692400-56693200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:56692400-56693200	Enhancers	Colonic Mucosa	Colon
46	chr14:56692400-56693400	Enhancers	Lung	lung
47	chr14:56692400-56703000	Weak transcription	Aorta	Aorta
48	chr14:56692400-56710000	Weak transcription	Fetal Stomach	stomach

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