Variant report

Variant	rs4905547
Chromosome Location	chr14:97290290-97290291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97264592..97266800-chr14:97290033..97292350,2	K562	blood:
2	chr14:97285108..97286873-chr14:97288100..97291000,2	MCF-7	breast:
3	chr14:97288589..97291273-chr14:97305528..97308304,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10131201	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10131630	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146571	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10149107	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873476	0.82[ASN][1000 genomes]
rs11160369	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11160371	0.91[ASN][1000 genomes]
rs11160375	0.82[ASN][1000 genomes]
rs11628733	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs12433112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434466	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12435963	0.90[ASN][1000 genomes]
rs12589919	0.81[CHB][hapmap]
rs12590723	0.90[ASN][1000 genomes]
rs12878184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12882853	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894621	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12897588	1.00[CHB][hapmap]
rs12897731	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951311	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951312	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957137	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145636	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2180896	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224442	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2230532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825576	0.91[ASN][1000 genomes]
rs4270096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900346	1.00[CHB][hapmap]
rs4900347	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900349	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900350	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4900351	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4900353	0.90[CHB][hapmap]
rs4905546	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4905548	1.00[CHB][hapmap]
rs4905551	1.00[CHB][hapmap]
rs4905552	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905553	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905555	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905557	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4905558	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905560	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905564	0.82[ASN][1000 genomes]
rs4905568	0.84[ASN][1000 genomes]
rs58514314	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61981027	1.00[ASN][1000 genomes]
rs67804110	0.87[ASN][1000 genomes]
rs67957817	0.86[ASN][1000 genomes]
rs7141028	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71419296	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722869	0.86[ASN][1000 genomes]
rs723810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736929	0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs749279	0.90[CHB][hapmap]
rs764300	1.00[CHB][hapmap]
rs8013081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016614	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285600	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323951	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323954	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323955	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
2	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:97265600-97291800	Weak transcription	A549	lung
4	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
5	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:97281400-97299800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:97282600-97293200	Weak transcription	Dnd41	blood
9	chr14:97282600-97300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:97282800-97301800	Weak transcription	Thymus	Thymus
11	chr14:97283000-97293200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:97283000-97293400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:97283000-97299800	Weak transcription	Fetal Thymus	thymus
14	chr14:97283000-97300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:97283400-97292200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:97283400-97294200	Weak transcription	Primary T cells from cord blood	blood
17	chr14:97284600-97290600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:97284600-97291400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:97284600-97299000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:97284600-97313800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:97285400-97290600	Weak transcription	Osteobl	bone
22	chr14:97286800-97298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:97287000-97301600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:97288000-97292000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:97288200-97291400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:97288200-97291800	Weak transcription	Brain Germinal Matrix	brain
27	chr14:97288200-97293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:97288200-97293200	Weak transcription	Gastric	stomach
29	chr14:97288200-97293800	Weak transcription	Fetal Brain Female	brain
30	chr14:97288200-97294200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:97288200-97303200	Weak transcription	Brain Anterior Caudate	brain
32	chr14:97288200-97314400	Weak transcription	Lung	lung
33	chr14:97288400-97293200	Weak transcription	Esophagus	oesophagus
34	chr14:97288400-97293200	Weak transcription	Spleen	Spleen
35	chr14:97288400-97299800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:97288600-97290400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:97288600-97293200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:97289400-97290400	Weak transcription	HMEC	breast
39	chr14:97289400-97290600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:97289400-97290600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:97289400-97290600	Weak transcription	NHEK	skin
42	chr14:97289400-97291000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:97289400-97302000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:97289800-97290600	Weak transcription	K562	blood
45	chr14:97290200-97290400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:97290200-97290400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:97290200-97292200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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