Variant report

Variant	rs753109
Chromosome Location	chr14:56669826-56669827
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	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1028972	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1152473	0.88[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs1152474	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs1152476	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs1152481	0.89[EUR][1000 genomes]
rs1152483	0.89[EUR][1000 genomes]
rs1188692	0.89[EUR][1000 genomes]
rs1479752	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs171411	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1979420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs242385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs242393	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs242395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs242398	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs242407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs242410	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242414	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs242417	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs242579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes]
rs242587	0.89[EUR][1000 genomes]
rs242588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes]
rs242592	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs242593	0.89[EUR][1000 genomes]
rs242594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs34175054	0.89[EUR][1000 genomes]
rs375156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3783668	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]
rs402332	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs429676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4901649	0.82[AMR][1000 genomes]
rs6573087	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7140808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7145410	0.87[ASN][1000 genomes]
rs7153057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7153858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs754689	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs754690	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs899603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56649800-56674600	Weak transcription	Aorta	Aorta
2	chr14:56656800-56672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:56662600-56670600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:56662600-56672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:56662600-56672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:56662600-56677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:56662800-56671800	Weak transcription	Spleen	Spleen
9	chr14:56662800-56672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:56662800-56672400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:56662800-56677400	Weak transcription	Right Atrium	heart
12	chr14:56662800-56683400	Weak transcription	Fetal Stomach	stomach
13	chr14:56663200-56679000	Weak transcription	Fetal Brain Female	brain
14	chr14:56663400-56672200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:56663400-56672400	Weak transcription	Primary T cells from cord blood	blood
16	chr14:56664200-56671800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:56665400-56670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:56665400-56671200	Weak transcription	Thymus	Thymus
19	chr14:56665400-56672000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:56665400-56674400	Weak transcription	Left Ventricle	heart
21	chr14:56665400-56674400	Weak transcription	Lung	lung
22	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:56666600-56671800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:56666800-56671800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:56666800-56671800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:56667000-56672000	Weak transcription	Fetal Kidney	kidney
27	chr14:56667200-56671800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:56667200-56671800	Weak transcription	Gastric	stomach
29	chr14:56667200-56672400	Weak transcription	Adipose Nuclei	Adipose
30	chr14:56667200-56672400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:56667200-56672400	Weak transcription	HUVEC	blood vessel
32	chr14:56667200-56672600	Weak transcription	NH-A	brain
33	chr14:56667200-56674600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:56667200-56683400	Weak transcription	NHDF-Ad	bronchial
35	chr14:56667400-56671200	Weak transcription	Stomach Mucosa	stomach
36	chr14:56667400-56671800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:56667400-56672400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:56667400-56672400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:56667400-56672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:56667400-56672400	Weak transcription	A549	lung
41	chr14:56667400-56677400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:56667600-56671600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:56667600-56672400	Weak transcription	Brain Anterior Caudate	brain
44	chr14:56667600-56672400	Weak transcription	Brain Substantia Nigra	brain
45	chr14:56667600-56674600	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:56668000-56670400	Weak transcription	Small Intestine	intestine
47	chr14:56668000-56671000	Weak transcription	Fetal Thymus	thymus
48	chr14:56668000-56672400	Weak transcription	Brain Angular Gyrus	brain
49	chr14:56668000-56674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:56668200-56672400	Weak transcription	Primary B cells from cord blood	blood

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