Variant report

Variant	rs8007411
Chromosome Location	chr14:31801530-31801531
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10130574	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132752	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134212	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10145767	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10147468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10148707	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs10149123	0.95[EUR][1000 genomes]
rs11156668	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11627179	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11844036	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11850326	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12586712	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12883276	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12885363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886557	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2094131	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182256	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378851	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2378852	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2378853	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2378857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28396248	1.00[EUR][1000 genomes]
rs28505754	1.00[EUR][1000 genomes]
rs28738723	1.00[EUR][1000 genomes]
rs28791187	0.95[EUR][1000 genomes]
rs3736918	1.00[CEU][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3887865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4595710	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981093	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4981838	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981840	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5025288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571408	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571409	1.00[CEU][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes]
rs7149420	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151153	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7151378	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156569	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7158257	1.00[CEU][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7159084	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161078	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642559	0.93[ASN][1000 genomes]
rs8008358	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012940	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016487	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs942907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	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	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
2	chr14:31768000-31805800	Weak transcription	NHEK	skin
3	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
8	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
10	chr14:31782200-31875200	Weak transcription	Gastric	stomach
11	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
12	chr14:31787200-31809200	Weak transcription	NHLF	lung
13	chr14:31789800-31805800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:31789800-31806800	Weak transcription	Psoas Muscle	Psoas
15	chr14:31791200-31812600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:31791600-31806000	Weak transcription	NHDF-Ad	bronchial
17	chr14:31796800-31808800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:31797000-31809000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:31797600-31801800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr14:31798000-31802000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr14:31798200-31807600	Strong transcription	Osteobl	bone
22	chr14:31798400-31804000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:31798600-31801600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr14:31798600-31801800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
25	chr14:31798600-31801800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:31798600-31802000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr14:31798600-31803800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:31798600-31803800	Strong transcription	Fetal Lung	lung
29	chr14:31798800-31801800	Strong transcription	Left Ventricle	heart
30	chr14:31799200-31805200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr14:31799600-31802800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:31799600-31806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
34	chr14:31799800-31801800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:31799800-31802800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:31799800-31803000	Weak transcription	NH-A	brain
37	chr14:31799800-31803400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:31799800-31803600	Weak transcription	Brain Anterior Caudate	brain
39	chr14:31799800-31805400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:31799800-31805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:31799800-31808000	Weak transcription	Lung	lung
42	chr14:31799800-31811800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:31799800-31814400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:31799800-31815600	Weak transcription	Colonic Mucosa	Colon
45	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
47	chr14:31800000-31806200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:31800400-31801600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:31800400-31801600	Strong transcription	Fetal Stomach	stomach

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