Variant report

Variant	rs12894621
Chromosome Location	chr14:97281245-97281246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97279153..97281602-chr14:97281672..97284139,2	MCF-7	breast:
2	chr14:97265880..97270207-chr14:97278911..97281407,6	K562	blood:
3	chr14:97278908..97281500-chr14:97284326..97286978,2	MCF-7	breast:
4	chr14:97265289..97269463-chr14:97278304..97281407,5	K562	blood:
5	chr14:97261785..97264150-chr14:97280598..97283173,2	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10131201	0.86[ASN][1000 genomes]
rs10131630	0.91[ASN][1000 genomes]
rs10145383	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10146571	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10149107	0.88[ASN][1000 genomes]
rs11160369	0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11628733	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs12101203	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12433112	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12434466	0.86[JPT][hapmap]
rs12586511	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12589919	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs12590169	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12878184	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12882853	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12889255	0.81[ASN][1000 genomes]
rs12892609	0.81[ASN][1000 genomes]
rs12894533	0.83[ASN][1000 genomes]
rs12897588	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12897731	0.91[ASN][1000 genomes]
rs17191471	0.80[CEU][hapmap]
rs1951311	0.88[ASN][1000 genomes]
rs1951312	0.85[ASN][1000 genomes]
rs1957137	0.86[ASN][1000 genomes]
rs2145635	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2145636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2180896	0.88[ASN][1000 genomes]
rs2180897	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2224442	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2230532	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs3825576	0.80[ASN][1000 genomes]
rs4270096	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4900346	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4900347	0.88[ASN][1000 genomes]
rs4900348	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4900349	0.91[ASN][1000 genomes]
rs4900350	1.00[CHB][hapmap]
rs4900351	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4900353	0.89[CEU][hapmap];0.90[CHB][hapmap]
rs4905546	0.88[ASN][1000 genomes]
rs4905547	0.88[ASN][1000 genomes]
rs4905548	0.86[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4905549	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4905550	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4905551	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4905552	0.88[ASN][1000 genomes]
rs4905553	0.88[ASN][1000 genomes]
rs4905555	0.84[ASN][1000 genomes]
rs4905558	0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4905560	0.85[ASN][1000 genomes]
rs58514314	0.83[ASN][1000 genomes]
rs61981027	0.88[ASN][1000 genomes]
rs67804110	0.81[ASN][1000 genomes]
rs71419296	0.81[ASN][1000 genomes]
rs7156355	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs722869	0.80[ASN][1000 genomes]
rs723810	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs736929	0.90[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs749279	0.90[CHB][hapmap]
rs764300	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8013081	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs8016614	0.85[ASN][1000 genomes]
rs9285600	0.91[ASN][1000 genomes]
rs9323951	0.91[ASN][1000 genomes]
rs9323954	0.88[ASN][1000 genomes]
rs9323955	1.00[CHB][hapmap]

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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
3	chr14:97265000-97282000	Weak transcription	Fetal Thymus	thymus
4	chr14:97265200-97282200	Weak transcription	Primary T cells from cord blood	blood
5	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:97265400-97282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:97265600-97282200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr14:97265600-97282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:97265600-97291800	Weak transcription	A549	lung
10	chr14:97266200-97282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
12	chr14:97266800-97282200	Weak transcription	Thymus	Thymus
13	chr14:97271600-97284200	Weak transcription	NHLF	lung
14	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:97272000-97282200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:97272800-97287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:97273000-97287200	Weak transcription	HMEC	breast
19	chr14:97273400-97284200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:97274400-97282200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:97275400-97281800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:97277000-97284200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:97277800-97284200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:97278000-97282400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:97278000-97287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:97278200-97284200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:97278200-97284200	Weak transcription	NHEK	skin
28	chr14:97278200-97287200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:97278400-97287200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:97279000-97284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:97279400-97282200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:97279400-97282400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:97279400-97284200	Weak transcription	GM12878-XiMat	blood
34	chr14:97279600-97281400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:97279600-97282000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:97279600-97282000	Weak transcription	Dnd41	blood
37	chr14:97279600-97282400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:97279600-97289200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:97279600-97289200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:97279800-97282000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:97280600-97281400	Strong transcription	K562	blood
42	chr14:97281200-97281400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:97281200-97282400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:97281200-97286800	Weak transcription	Fetal Brain Male	brain

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