Variant report

Variant	rs7156249
Chromosome Location	chr14:39818222-39818223
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10130584	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142118	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10143290	0.85[ASN][1000 genomes]
rs10146207	0.83[AMR][1000 genomes]
rs10148678	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1040811	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10483539	0.85[ASN][1000 genomes]
rs10782392	0.85[ASN][1000 genomes]
rs10872919	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11157055	0.85[ASN][1000 genomes]
rs12434446	0.85[ASN][1000 genomes]
rs2025029	0.85[ASN][1000 genomes]
rs2094275	0.83[AMR][1000 genomes]
rs2099409	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2117338	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4899219	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4899237	0.81[AMR][1000 genomes]
rs6571914	0.85[ASN][1000 genomes]
rs6571917	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571918	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6571934	0.81[AMR][1000 genomes]
rs6571935	0.81[AMR][1000 genomes]
rs6571936	0.81[AMR][1000 genomes]
rs7143289	0.81[AFR][1000 genomes]
rs7158384	0.87[AMR][1000 genomes]
rs7158633	0.81[AFR][1000 genomes]
rs7159584	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8010635	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8010826	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8012235	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv976333	chr14:39817894-39819754	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3333084	chr14:39818154-39818618	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
6	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
8	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
9	chr14:39786800-39823000	Strong transcription	Liver	Liver
10	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:39793000-39822200	Weak transcription	Fetal Lung	lung
12	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
13	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
16	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
18	chr14:39802800-39822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:39802800-39828400	Weak transcription	Ovary	ovary
20	chr14:39802800-39828400	Weak transcription	Pancreas	Pancrea
21	chr14:39802800-39828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:39802800-39835400	Weak transcription	Gastric	stomach
23	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
24	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
25	chr14:39803000-39845800	Weak transcription	NHEK	skin
26	chr14:39803200-39824600	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
29	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:39803400-39843800	Weak transcription	HMEC	breast
32	chr14:39807000-39824400	Weak transcription	NH-A	brain
33	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
34	chr14:39808400-39819000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:39808400-39828400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:39808400-39828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:39808600-39828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:39808600-39828800	Weak transcription	Fetal Heart	heart
40	chr14:39808800-39822200	Weak transcription	A549	lung
41	chr14:39809600-39822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:39809600-39832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:39809800-39828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:39811800-39823200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:39812200-39818600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:39812200-39819800	Strong transcription	Fetal Intestine Large	intestine
48	chr14:39812200-39820000	Strong transcription	HepG2	liver
49	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
50	chr14:39812400-39832800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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