Variant report

Variant	rs17097617
Chromosome Location	chr14:31427677-31427678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10459471	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10483355	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483356	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483359	0.81[CEU][hapmap];0.90[CHB][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11623403	0.81[JPT][hapmap]
rs11624437	0.89[CHB][hapmap]
rs11625390	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627379	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12892054	0.89[CHB][hapmap]
rs12897532	1.00[CHB][hapmap]
rs17097531	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17097608	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097614	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097688	0.89[CHB][hapmap]
rs2064823	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2073204	1.00[AFR][1000 genomes]
rs2281563	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2378815	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784158	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55708493	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60862458	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60990438	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61129484	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150316	0.81[JPT][hapmap]
rs72668381	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670303	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008526	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8010129	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
3	chr14:31360200-31435600	Weak transcription	Gastric	stomach
4	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
5	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
7	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
8	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
10	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
11	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:31396600-31429600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:31414800-31434200	Weak transcription	Fetal Kidney	kidney
18	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:31415800-31428000	Weak transcription	Brain Germinal Matrix	brain
20	chr14:31415800-31429200	Weak transcription	Lung	lung
21	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:31416000-31428200	Weak transcription	Pancreas	Pancrea
23	chr14:31416000-31429200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:31416000-31433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
26	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:31416000-31435600	Weak transcription	NHLF	lung
29	chr14:31416200-31433600	Weak transcription	Fetal Brain Female	brain
30	chr14:31416200-31434000	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
32	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:31416800-31433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:31417000-31435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:31417200-31429200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:31417600-31428800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:31418200-31434000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:31419200-31434000	Weak transcription	HSMMtube	muscle
41	chr14:31419400-31432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:31419800-31429200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:31420000-31435400	Weak transcription	Fetal Thymus	thymus
44	chr14:31420200-31430800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:31420800-31433200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:31420800-31435400	Weak transcription	NHDF-Ad	bronchial
48	chr14:31423200-31433000	Weak transcription	Fetal Stomach	stomach
49	chr14:31423200-31433200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:31423200-31433200	Weak transcription	Fetal Brain Male	brain

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