Variant report

Variant	rs3783668
Chromosome Location	chr14:56679421-56679422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1028972	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1152473	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[EUR][1000 genomes]
rs1152474	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[GIH][hapmap];0.94[MEX][hapmap];0.94[EUR][1000 genomes]
rs1152476	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[EUR][1000 genomes]
rs1152481	0.94[EUR][1000 genomes]
rs1152483	0.94[EUR][1000 genomes]
rs1188692	0.94[EUR][1000 genomes]
rs1479752	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs171411	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1979420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs242390	0.80[AMR][1000 genomes]
rs242392	0.84[MEX][hapmap]
rs242393	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs242395	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[EUR][1000 genomes]
rs242398	0.90[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs242400	0.84[MEX][hapmap]
rs242406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242410	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs242414	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs242417	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs242419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes]
rs242587	0.94[EUR][1000 genomes]
rs242588	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[EUR][1000 genomes]
rs242592	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs242593	0.94[EUR][1000 genomes]
rs242594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs34175054	0.94[EUR][1000 genomes]
rs375156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs402332	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs429676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4901649	0.84[MEX][hapmap];0.82[AMR][1000 genomes]
rs6573087	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7140808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7145410	0.87[ASN][1000 genomes]
rs7153057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7153858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs753109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs754689	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754690	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs899603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:56662800-56683400	Weak transcription	Fetal Stomach	stomach
3	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56667200-56683400	Weak transcription	NHDF-Ad	bronchial
5	chr14:56669200-56681200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:56669600-56681200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:56672800-56683000	Weak transcription	Fetal Lung	lung
8	chr14:56673000-56682000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:56673000-56682800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:56673000-56683000	Weak transcription	Fetal Kidney	kidney
11	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:56673400-56683200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
14	chr14:56673800-56682800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:56673800-56683200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:56673800-56683200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:56673800-56683600	Weak transcription	Stomach Mucosa	stomach
18	chr14:56675000-56683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:56675000-56686800	Weak transcription	Aorta	Aorta
20	chr14:56675600-56681000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:56675600-56686200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:56677200-56679800	Enhancers	HSMMtube	muscle
23	chr14:56677200-56685000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:56677400-56680400	Enhancers	Brain Substantia Nigra	brain
25	chr14:56677400-56685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:56677600-56680600	Enhancers	Brain Anterior Caudate	brain
27	chr14:56677800-56680400	Enhancers	Brain Angular Gyrus	brain
28	chr14:56678000-56681600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:56678000-56683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:56678000-56683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:56678200-56679600	Weak transcription	Small Intestine	intestine
32	chr14:56678200-56680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:56678200-56680400	Weak transcription	Ovary	ovary
34	chr14:56678200-56681400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:56678200-56681400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:56678200-56681400	Enhancers	Dnd41	blood
37	chr14:56678200-56682000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:56678200-56683000	Weak transcription	Adipose Nuclei	Adipose
39	chr14:56678200-56686200	Weak transcription	Right Atrium	heart
40	chr14:56678400-56680000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:56678400-56680400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:56678600-56679800	Enhancers	Thymus	Thymus
43	chr14:56678800-56679600	Enhancers	Left Ventricle	heart
44	chr14:56678800-56681400	Enhancers	Brain Hippocampus Middle	brain
45	chr14:56679000-56679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:56679000-56679600	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:56679000-56679600	Enhancers	Fetal Brain Female	brain
48	chr14:56679000-56679800	Enhancers	Brain Germinal Matrix	brain
49	chr14:56679000-56679800	Enhancers	Lung	lung
50	chr14:56679000-56680000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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