Variant report

Variant	rs7141484
Chromosome Location	chr14:56667045-56667046
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56664921..56668726-chr14:56673424..56676785,5	K562	blood:
2	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10152004	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152464	0.92[CHB][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs1152466	0.84[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap]
rs12589933	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap]
rs1382974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1382977	0.81[JPT][hapmap]
rs17091062	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap]
rs17091112	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17091123	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17091196	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2228708	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2297610	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs242581	0.91[JPT][hapmap]
rs3783659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs385141	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3898605	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4636823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs58116791	0.95[ASN][1000 genomes]
rs6573085	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141889	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7141949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143560	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs7152487	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7161103	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7161274	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs754314	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap]
rs8011852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8014574	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]

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:79 , 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	chr14:56662400-56667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:56662400-56667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:56662600-56667200	Weak transcription	Brain Angular Gyrus	brain
6	chr14:56662600-56667800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:56662600-56668800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:56662600-56670600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:56662600-56672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:56662600-56672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:56662600-56677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:56662800-56667200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:56662800-56669800	Weak transcription	Fetal Intestine Large	intestine
15	chr14:56662800-56671800	Weak transcription	Spleen	Spleen
16	chr14:56662800-56672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:56662800-56672400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:56662800-56677400	Weak transcription	Right Atrium	heart
19	chr14:56662800-56683400	Weak transcription	Fetal Stomach	stomach
20	chr14:56663200-56679000	Weak transcription	Fetal Brain Female	brain
21	chr14:56663400-56672200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:56663400-56672400	Weak transcription	Primary T cells from cord blood	blood
23	chr14:56664000-56667200	Enhancers	Pancreas	Pancrea
24	chr14:56664200-56671800	Weak transcription	Brain Germinal Matrix	brain
25	chr14:56665000-56667600	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:56665000-56668200	Enhancers	K562	blood
27	chr14:56665200-56667200	Enhancers	HSMM	muscle
28	chr14:56665200-56667200	Enhancers	HUVEC	blood vessel
29	chr14:56665200-56667400	Enhancers	Hela-S3	cervix
30	chr14:56665200-56667600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:56665200-56667600	Enhancers	GM12878-XiMat	blood
32	chr14:56665400-56667200	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:56665400-56667200	Enhancers	NH-A	brain
34	chr14:56665400-56670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:56665400-56671200	Weak transcription	Thymus	Thymus
36	chr14:56665400-56672000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:56665400-56674400	Weak transcription	Left Ventricle	heart
38	chr14:56665400-56674400	Weak transcription	Lung	lung
39	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:56665800-56667400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:56665800-56667600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr14:56666000-56667200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:56666000-56667200	Enhancers	Duodenum Mucosa	Duodenum
44	chr14:56666000-56667400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr14:56666200-56667200	Enhancers	Adipose Nuclei	Adipose
46	chr14:56666200-56667200	Weak transcription	Fetal Thymus	thymus
47	chr14:56666200-56667400	Enhancers	Fetal Intestine Small	intestine
48	chr14:56666200-56667400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:56666200-56667600	Enhancers	Colon Smooth Muscle	Colon
50	chr14:56666200-56668000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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