Variant report

Variant	rs12434140
Chromosome Location	chr14:39806952-39806953
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10131617	0.91[JPT][hapmap]
rs10133417	0.83[CHB][hapmap];0.96[JPT][hapmap]
rs10134365	0.91[JPT][hapmap]
rs10137352	0.83[CHB][hapmap];0.96[JPT][hapmap]
rs10137905	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10138869	0.87[JPT][hapmap]
rs10151659	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10162550	0.95[JPT][hapmap]
rs10872920	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11157053	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11157057	0.80[EUR][1000 genomes]
rs11157058	0.95[JPT][hapmap]
rs11157059	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11620695	0.83[CHB][hapmap];0.96[JPT][hapmap]
rs11621330	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11626679	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11627580	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs12587713	0.83[CHB][hapmap];0.96[JPT][hapmap]
rs12590172	0.87[CHB][hapmap]
rs12894855	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs12897272	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1594842	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs17109021	0.91[JPT][hapmap]
rs17109028	0.91[JPT][hapmap]
rs17109073	0.95[JPT][hapmap]
rs1897792	0.91[JPT][hapmap]
rs1950952	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1998194	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2082635	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2274395	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2274396	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2274399	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs28619058	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3814860	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4899227	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902569	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4902570	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4902622	0.81[JPT][hapmap]
rs62000670	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6571915	0.80[ASN][1000 genomes]
rs6571919	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140164	0.86[JPT][hapmap]
rs7143646	0.90[JPT][hapmap]
rs7148150	0.83[CHB][hapmap];0.96[JPT][hapmap]
rs7148377	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs7152341	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7153482	0.86[JPT][hapmap]
rs7161403	0.87[CHB][hapmap]
rs718364	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs719455	0.80[CHB][hapmap]
rs8003117	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8004716	0.83[CHB][hapmap];0.96[JPT][hapmap]
rs8006321	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs8018717	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs910370	0.80[CHB][hapmap]
rs9322998	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs956109	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
3	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
10	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
14	chr14:39772600-39808000	Weak transcription	Fetal Heart	heart
15	chr14:39782800-39808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
17	chr14:39786800-39808000	Weak transcription	K562	blood
18	chr14:39786800-39823000	Strong transcription	Liver	Liver
19	chr14:39789400-39809600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:39792600-39813800	Weak transcription	NHDF-Ad	bronchial
21	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:39793000-39822200	Weak transcription	Fetal Lung	lung
23	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
24	chr14:39796000-39810200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:39796400-39817800	Weak transcription	HSMMtube	muscle
26	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:39796800-39808000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:39796800-39811800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
30	chr14:39797200-39815000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:39797600-39816000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:39799000-39810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:39799200-39809800	Strong transcription	Primary T cells from cord blood	blood
34	chr14:39799400-39810800	Strong transcription	HepG2	liver
35	chr14:39799400-39811000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:39799600-39811000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:39799800-39808200	Strong transcription	Fetal Intestine Large	intestine
38	chr14:39800000-39809200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:39800800-39810200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr14:39800800-39810800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:39801200-39811000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr14:39801800-39808400	Weak transcription	Fetal Brain Male	brain
43	chr14:39801800-39809400	Strong transcription	Fetal Intestine Small	intestine
44	chr14:39802000-39808200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:39802000-39811800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
47	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:39802200-39808200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:39802600-39808000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:39802600-39817000	Weak transcription	NHLF	lung

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