Variant report

Variant	rs2162547
Chromosome Location	chr14:81394526-81394527
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	chr14:81389769..81391378-chr14:81393076..81395517,2	K562	blood:
2	chr14:81388857..81391378-chr14:81393034..81394576,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10133034	0.81[JPT][hapmap]
rs10141970	0.82[JPT][hapmap]
rs10142753	0.81[JPT][hapmap]
rs1016699	0.88[JPT][hapmap]
rs1038523	0.82[JPT][hapmap]
rs11625199	0.81[JPT][hapmap]
rs11627934	0.88[JPT][hapmap]
rs1197467	0.81[JPT][hapmap]
rs1197474	0.81[JPT][hapmap]
rs12050151	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12050342	0.81[JPT][hapmap]
rs12050416	0.86[JPT][hapmap]
rs12433134	0.88[JPT][hapmap]
rs12434318	0.88[JPT][hapmap]
rs12437260	0.82[JPT][hapmap]
rs12896436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162171	0.81[JPT][hapmap]
rs162174	0.81[JPT][hapmap]
rs170595	0.82[JPT][hapmap]
rs170596	0.82[JPT][hapmap]
rs17111153	0.92[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17111237	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17111246	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17111256	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17615020	0.81[JPT][hapmap]
rs1863766	0.81[JPT][hapmap]
rs1976104	0.91[CHB][hapmap]
rs2010847	0.82[JPT][hapmap]
rs2059719	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228119	0.88[JPT][hapmap]
rs228122	0.81[JPT][hapmap]
rs2284720	0.81[JPT][hapmap]
rs2288347	0.81[JPT][hapmap]
rs2556607	0.86[JPT][hapmap]
rs2556611	0.81[JPT][hapmap]
rs2619661	0.82[JPT][hapmap]
rs28850656	0.86[JPT][hapmap]
rs2888032	0.81[JPT][hapmap]
rs327423	0.81[JPT][hapmap]
rs327424	0.81[JPT][hapmap]
rs327428	0.82[JPT][hapmap]
rs327429	0.81[JPT][hapmap]
rs327434	0.81[JPT][hapmap]
rs327452	0.82[JPT][hapmap]
rs327454	0.81[JPT][hapmap]
rs328206	0.82[JPT][hapmap]
rs328212	0.82[JPT][hapmap]
rs328213	0.81[JPT][hapmap]
rs4899780	0.87[JPT][hapmap]
rs4903949	0.81[JPT][hapmap]
rs57104434	0.90[AMR][1000 genomes]
rs6574608	0.81[JPT][hapmap]
rs6574609	0.86[JPT][hapmap]
rs6574610	0.82[JPT][hapmap]
rs7140452	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs7157845	0.82[JPT][hapmap]
rs7158936	0.81[JPT][hapmap]
rs722906	0.82[JPT][hapmap]
rs72693028	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72693029	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72693043	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72693050	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs759919	0.88[JPT][hapmap]
rs768359	0.86[JPT][hapmap]
rs8008366	0.82[JPT][hapmap]
rs8016507	0.81[JPT][hapmap]
rs9323694	0.86[JPT][hapmap]

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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:81359400-81406000	Weak transcription	A549	lung
4	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
8	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:81375400-81407600	Weak transcription	Gastric	stomach
10	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
15	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:81392600-81396400	Weak transcription	Spleen	Spleen
23	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
25	chr14:81392800-81396200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
27	chr14:81393000-81395800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:81393000-81407600	Weak transcription	Lung	lung
29	chr14:81393600-81394600	Enhancers	NHEK	skin
30	chr14:81393600-81396200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:81393600-81397400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:81393600-81399400	Weak transcription	Right Atrium	heart
33	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:81393800-81396600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:81393800-81397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:81393800-81397200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:81394000-81395400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:81394000-81396200	Weak transcription	Fetal Thymus	thymus
39	chr14:81394000-81396800	Weak transcription	HSMMtube	muscle
40	chr14:81394000-81396800	Weak transcription	NH-A	brain
41	chr14:81394000-81397000	Weak transcription	NHLF	lung
42	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
43	chr14:81394200-81395400	Weak transcription	Dnd41	blood
44	chr14:81394200-81396200	Weak transcription	Thymus	Thymus
45	chr14:81394200-81396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:81394200-81396800	Weak transcription	Osteobl	bone
47	chr14:81394200-81397200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:81394200-81397200	Weak transcription	NHDF-Ad	bronchial
49	chr14:81394400-81395800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:81394400-81395800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links