Variant report

Variant	rs1270074
Chromosome Location	chr14:65564856-65564857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65562648..65566142-chr14:65569312..65572433,3	K562	blood:
2	chr14:65557283..65560955-chr14:65563018..65566025,3	K562	blood:
3	chr14:65550861..65552492-chr14:65562559..65565476,2	MCF-7	breast:
4	chr14:65563116..65565005-chr14:65565094..65566679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125952	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10143198	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158574	0.86[CEU][hapmap]
rs1124751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1124752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11625045	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1256417	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1271582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880781	0.83[CEU][hapmap]
rs12887607	0.80[CEU][hapmap]
rs1953228	0.82[EUR][1000 genomes]
rs1953232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1957948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957949	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1998688	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2093989	0.90[EUR][1000 genomes]
rs2151755	0.88[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2763888	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2781373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2781374	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2781375	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34459643	0.80[EUR][1000 genomes]
rs35410051	0.88[ASN][1000 genomes]
rs35520739	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35769504	0.80[EUR][1000 genomes]
rs4899161	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs4902357	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902358	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs4902359	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902361	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902362	0.85[ASN][1000 genomes]
rs55658675	0.82[EUR][1000 genomes]
rs7143495	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7145112	0.90[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.86[ASN][1000 genomes]
rs7146939	0.80[ASN][1000 genomes]
rs7150646	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154852	0.82[EUR][1000 genomes]
rs7156617	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs7158239	0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.82[ASN][1000 genomes]
rs7159443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7161394	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs762810	0.83[EUR][1000 genomes]
rs8005829	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8008095	0.86[ASN][1000 genomes]
rs8010213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015921	0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs8181937	0.85[EUR][1000 genomes]
rs8181938	0.85[EUR][1000 genomes]
rs8181939	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs884683	0.83[CEU][hapmap]
rs942626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942627	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs942628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942629	0.88[CEU][hapmap];0.89[CHB][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs998247	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65553400-65565200	Strong transcription	Hela-S3	cervix
2	chr14:65555000-65565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:65555800-65565200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:65556400-65567200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:65556400-65567600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65556400-65569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:65556800-65567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:65557000-65565400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:65557200-65566800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:65557600-65568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:65558800-65565200	Enhancers	Stomach Mucosa	stomach
12	chr14:65560400-65565000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:65560600-65567800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:65560600-65568000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:65560800-65565000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr14:65560800-65568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:65561000-65567400	Weak transcription	A549	lung
18	chr14:65561000-65567800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:65561600-65567800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:65561600-65568400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:65561800-65565000	Enhancers	Brain Substantia Nigra	brain
22	chr14:65561800-65565600	Enhancers	Brain Anterior Caudate	brain
23	chr14:65561800-65566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:65562000-65565200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr14:65562000-65565200	Enhancers	Small Intestine	intestine
26	chr14:65562000-65565600	Genic enhancers	Fetal Intestine Large	intestine
27	chr14:65562200-65565000	Genic enhancers	Fetal Thymus	thymus
28	chr14:65562400-65565000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:65562400-65565000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:65562400-65565400	Enhancers	Colonic Mucosa	Colon
31	chr14:65562400-65565600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:65562400-65567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:65562400-65567600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:65562600-65565000	Enhancers	Ovary	ovary
35	chr14:65562800-65567800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:65562800-65568400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:65563000-65565000	Enhancers	Adipose Nuclei	Adipose
38	chr14:65563000-65565000	Enhancers	K562	blood
39	chr14:65563000-65565200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65563000-65567400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:65563200-65565000	Strong transcription	Placenta	Placenta
42	chr14:65563200-65565200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:65563200-65565200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:65563200-65565200	Genic enhancers	NHLF	lung
45	chr14:65563200-65565600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:65563400-65565000	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr14:65563400-65565000	Enhancers	Stomach Smooth Muscle	stomach
48	chr14:65563400-65566800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr14:65563400-65568000	Weak transcription	Aorta	Aorta
50	chr14:65563400-65568000	Weak transcription	Fetal Muscle Trunk	muscle

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