Variant report

Variant	rs4905560
Chromosome Location	chr14:97354740-97354741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97349904..97353834-chr14:97354372..97357371,3	K562	blood:
2	chr14:97347013..97350002-chr14:97352064..97354916,2	K562	blood:
3	chr14:97352755..97355141-chr14:97359581..97361820,2	K562	blood:
4	chr14:97352755..97357017-chr14:97358100..97363870,8	K562	blood:
5	chr14:97342578..97345123-chr14:97353355..97355905,2	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10131201	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10131630	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10145383	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146571	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10149107	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10873476	0.84[ASN][1000 genomes]
rs11160369	0.84[ASN][1000 genomes]
rs11160371	0.91[ASN][1000 genomes]
rs11160375	0.84[ASN][1000 genomes]
rs11628733	0.84[ASN][1000 genomes]
rs12433112	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434466	0.88[ASN][1000 genomes]
rs12435963	0.92[ASN][1000 genomes]
rs12590723	0.92[ASN][1000 genomes]
rs12878184	0.93[ASN][1000 genomes]
rs12882853	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894621	0.85[ASN][1000 genomes]
rs12897731	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951311	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951312	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957137	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145636	0.88[ASN][1000 genomes]
rs2180896	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2224442	0.84[ASN][1000 genomes]
rs2230532	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825576	0.89[ASN][1000 genomes]
rs4270096	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900347	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900349	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900350	0.82[ASN][1000 genomes]
rs4900351	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905546	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4905547	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905552	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905553	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905555	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905557	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4905558	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905564	0.85[ASN][1000 genomes]
rs4905568	0.87[ASN][1000 genomes]
rs58514314	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61981027	0.97[ASN][1000 genomes]
rs67804110	0.85[ASN][1000 genomes]
rs67957817	0.89[ASN][1000 genomes]
rs7141028	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71419296	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156355	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722869	0.84[ASN][1000 genomes]
rs723810	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736929	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8013081	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016614	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285600	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323951	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323954	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323955	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97303400-97371600	Weak transcription	Ovary	ovary
3	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:97325600-97362000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:97331000-97378400	Weak transcription	A549	lung
6	chr14:97338400-97355200	Weak transcription	Psoas Muscle	Psoas
7	chr14:97341400-97357400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:97342800-97367000	Weak transcription	NHEK	skin
9	chr14:97347000-97368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:97348200-97361400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:97348600-97356000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:97349200-97355000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:97349200-97359200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:97349200-97367200	Weak transcription	Primary B cells from cord blood	blood
15	chr14:97349200-97367600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:97349200-97377400	Weak transcription	Primary T cells from cord blood	blood
17	chr14:97349400-97354800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:97349400-97355000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:97349400-97356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:97349400-97359000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:97349400-97369200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:97353200-97355200	Enhancers	K562	blood
23	chr14:97353400-97355400	Enhancers	GM12878-XiMat	blood
24	chr14:97353400-97356400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:97353600-97355400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:97353600-97355600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:97353600-97355600	Weak transcription	Fetal Brain Female	brain
28	chr14:97353800-97355200	Enhancers	Fetal Thymus	thymus
29	chr14:97353800-97356000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:97354000-97355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:97354000-97356000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:97354000-97360200	Weak transcription	Dnd41	blood
33	chr14:97354200-97355200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:97354200-97355400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:97354200-97356000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:97354200-97356000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr14:97354200-97356200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:97354600-97355000	Enhancers	Thymus	Thymus
39	chr14:97354600-97355200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:97354600-97355400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:97354600-97355400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:97354600-97355600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:97354600-97355600	Enhancers	HUES6 Cell Line	embryonic stem cell

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