Variant report

Variant	rs17102688
Chromosome Location	chr14:65916964-65916965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65912946..65915806-chr14:65916268..65918794,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130526	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10131727	0.88[CHB][hapmap];0.93[ASN][1000 genomes]
rs10143920	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10149311	0.93[ASN][1000 genomes]
rs10483777	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12323434	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12431562	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12432032	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12432426	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12433051	1.00[ASN][1000 genomes]
rs12433273	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12433688	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434375	0.86[CHB][hapmap];0.91[ASN][1000 genomes]
rs12434513	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434626	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435809	0.87[ASN][1000 genomes]
rs12436349	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs12436381	0.88[CHB][hapmap];0.93[ASN][1000 genomes]
rs12436402	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12436434	0.95[ASN][1000 genomes]
rs12436482	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12436677	0.87[ASN][1000 genomes]
rs12437088	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12437132	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17102708	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102839	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17246385	0.87[ASN][1000 genomes]
rs1952605	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2300863	0.83[ASN][1000 genomes]
rs2300866	0.83[ASN][1000 genomes]
rs55698845	0.94[AFR][1000 genomes]
rs55723633	0.84[AFR][1000 genomes]
rs55954698	0.94[AFR][1000 genomes]
rs56258162	0.94[AFR][1000 genomes]
rs56401246	0.83[AFR][1000 genomes]
rs56821971	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57283810	0.84[AFR][1000 genomes]
rs58087042	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58160832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59328088	0.83[AFR][1000 genomes]
rs60393585	0.94[AFR][1000 genomes]
rs60470427	0.94[AFR][1000 genomes]
rs61016861	0.94[AFR][1000 genomes]
rs61417186	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74056768	0.94[AFR][1000 genomes]
rs74056775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74056784	0.94[AFR][1000 genomes]
rs74056787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74056794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74056796	0.94[AFR][1000 genomes]
rs74056798	0.94[AFR][1000 genomes]
rs74056800	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74058503	0.84[AFR][1000 genomes]
rs74058505	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74058507	0.94[AFR][1000 genomes]
rs74058513	0.84[AFR][1000 genomes]
rs74058518	0.94[AFR][1000 genomes]
rs74058519	0.84[AFR][1000 genomes]
rs74058523	0.94[AFR][1000 genomes]
rs74058524	0.94[AFR][1000 genomes]
rs74058525	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74058528	0.94[AFR][1000 genomes]
rs74058529	0.84[AFR][1000 genomes]
rs74058536	0.83[AFR][1000 genomes]
rs74058539	0.94[AFR][1000 genomes]
rs74058541	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs74058545	0.94[AFR][1000 genomes]
rs74058546	0.94[AFR][1000 genomes]
rs74058547	0.94[AFR][1000 genomes]
rs74058548	0.94[AFR][1000 genomes]
rs74058549	0.94[AFR][1000 genomes]
rs74058550	0.94[AFR][1000 genomes]
rs74058551	0.94[AFR][1000 genomes]
rs74058553	0.94[AFR][1000 genomes]
rs74058554	0.94[AFR][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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
4	chr14:65898400-65935600	Weak transcription	Gastric	stomach
5	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:65899800-65917600	Weak transcription	Thymus	Thymus
7	chr14:65900000-65917400	Weak transcription	Fetal Thymus	thymus
8	chr14:65901200-65917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65901200-65920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:65901800-65917600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:65901800-65920200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:65902200-65927000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:65902400-65928400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:65903000-65917800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:65903200-65917600	Weak transcription	Fetal Stomach	stomach
16	chr14:65903200-65922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:65903200-65925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:65905000-65917600	Weak transcription	Brain Germinal Matrix	brain
19	chr14:65905600-65918000	Weak transcription	Primary T cells from cord blood	blood
20	chr14:65905800-65918000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:65906000-65923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:65906000-65926800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:65906200-65919800	Weak transcription	Ovary	ovary
25	chr14:65906200-65922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:65906600-65922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:65907000-65920400	Weak transcription	K562	blood
28	chr14:65911200-65917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:65912200-65917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:65912200-65917600	Weak transcription	Fetal Intestine Small	intestine
32	chr14:65912200-65917800	Weak transcription	Fetal Intestine Large	intestine
33	chr14:65912200-65922400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:65912400-65917600	Weak transcription	Primary B cells from cord blood	blood
35	chr14:65913000-65917400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:65913000-65924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:65913200-65920200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:65913200-65920400	Weak transcription	Fetal Lung	lung
39	chr14:65913200-65922400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65913200-65927000	Weak transcription	NH-A	brain
41	chr14:65913200-65928000	Weak transcription	Osteobl	bone
42	chr14:65913400-65918400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:65913600-65917400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:65913600-65917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:65913600-65920400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:65913800-65920200	Weak transcription	Brain Angular Gyrus	brain
47	chr14:65913800-65920200	Weak transcription	Small Intestine	intestine
48	chr14:65913800-65922800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:65913800-65928000	Weak transcription	HUVEC	blood vessel
50	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart

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