Variant report

Variant	rs17101315
Chromosome Location	chr14:64068193-64068194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10083359	0.90[CHD][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10083535	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10131964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132382	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10133598	0.83[EUR][1000 genomes]
rs10133932	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137182	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137805	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10137908	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137933	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10142782	0.90[EUR][1000 genomes]
rs10144435	0.83[EUR][1000 genomes]
rs10144827	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10148637	0.90[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10148797	0.83[EUR][1000 genomes]
rs10149710	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10149737	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10149828	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150009	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10498509	0.83[EUR][1000 genomes]
rs11158505	0.81[CHD][hapmap]
rs11847188	1.00[CEU][hapmap]
rs11847332	1.00[CEU][hapmap]
rs12323694	0.83[EUR][1000 genomes]
rs1255792	0.96[ASN][1000 genomes]
rs1262228	0.96[ASN][1000 genomes]
rs17101326	0.87[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs17101328	0.83[EUR][1000 genomes]
rs2236339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373566	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28575623	0.83[ASN][1000 genomes]
rs28590010	0.83[EUR][1000 genomes]
rs28633552	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28707240	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28733391	0.83[EUR][1000 genomes]
rs28778590	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28796021	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28821865	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4420451	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55659518	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58485817	0.83[ASN][1000 genomes]
rs60269901	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60327717	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61984037	0.96[ASN][1000 genomes]
rs61984047	0.83[ASN][1000 genomes]
rs6573525	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573526	1.00[CEU][hapmap]
rs7142943	1.00[ASN][1000 genomes]
rs7145740	1.00[CHD][hapmap];0.96[ASN][1000 genomes]
rs7148824	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152052	1.00[CEU][hapmap]
rs7154057	1.00[CEU][hapmap]
rs7154795	1.00[CEU][hapmap]
rs7155345	1.00[CEU][hapmap]
rs7155351	1.00[CEU][hapmap]
rs7156289	1.00[ASN][1000 genomes]
rs7156393	1.00[ASN][1000 genomes]
rs73263604	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73263616	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73263627	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73280637	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280645	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280662	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280667	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280672	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359072	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7359073	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74056152	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056153	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056154	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8006499	1.00[CEU][hapmap]
rs8007512	1.00[ASN][1000 genomes]
rs8009516	0.83[ASN][1000 genomes]
rs8012130	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012691	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8012866	1.00[CEU][hapmap]
rs8018580	1.00[CEU][hapmap]
rs8020691	1.00[CEU][hapmap]
rs8020821	0.90[CHD][hapmap]
rs8022456	0.83[EUR][1000 genomes]
rs974700	1.00[CEU][hapmap]

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64061200-64081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
3	chr14:64062200-64068600	Weak transcription	Fetal Stomach	stomach
4	chr14:64062200-64070000	Weak transcription	Fetal Brain Female	brain
5	chr14:64062200-64070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:64062200-64071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:64062200-64077800	Weak transcription	Esophagus	oesophagus
8	chr14:64062200-64082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:64062200-64107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:64062600-64107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:64062800-64105400	Weak transcription	Hela-S3	cervix
12	chr14:64063000-64069400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:64063200-64072200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:64063200-64092800	Weak transcription	Aorta	Aorta
15	chr14:64063400-64098600	Weak transcription	Small Intestine	intestine
16	chr14:64063600-64069200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:64063600-64071000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:64063800-64069200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:64063800-64070600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:64064200-64070800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:64064200-64071800	Weak transcription	Fetal Heart	heart
22	chr14:64064400-64068200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:64064400-64068600	Strong transcription	Dnd41	blood
24	chr14:64064600-64068400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:64064600-64068400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:64064600-64069200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:64064800-64068400	Strong transcription	Primary B cells from cord blood	blood
28	chr14:64064800-64069000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:64064800-64081000	Weak transcription	NHLF	lung
30	chr14:64065000-64068800	Weak transcription	Fetal Intestine Small	intestine
31	chr14:64065200-64068200	Strong transcription	Fetal Intestine Large	intestine
32	chr14:64065200-64069000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr14:64065400-64068200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:64065400-64068400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:64065400-64069200	Strong transcription	Liver	Liver
36	chr14:64065400-64071200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:64065600-64068200	Strong transcription	Ovary	ovary
38	chr14:64065600-64069200	Strong transcription	Left Ventricle	heart
39	chr14:64065800-64081000	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:64066000-64081200	Weak transcription	NHDF-Ad	bronchial
41	chr14:64066000-64081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:64066200-64068200	Weak transcription	Psoas Muscle	Psoas
43	chr14:64066200-64069000	Weak transcription	HMEC	breast
44	chr14:64066200-64070200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:64066200-64076800	Weak transcription	Placenta	Placenta
46	chr14:64066200-64080400	Weak transcription	HUVEC	blood vessel
47	chr14:64066200-64080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:64066200-64081400	Weak transcription	Brain Anterior Caudate	brain
49	chr14:64066200-64081600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:64066200-64081600	Weak transcription	Brain Inferior Temporal Lobe	brain

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