Variant report

Variant	rs1959148
Chromosome Location	chr14:65926769-65926770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65925362..65927679-chr14:65938765..65941541,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10129187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10130560	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10133903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10135594	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10135934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136412	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143822	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10145561	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145996	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	0.82[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151921	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162379	0.88[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162474	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10162506	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220303	0.87[ASW][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220304	0.87[ASW][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483775	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10483779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10483784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12587616	0.90[ASN][1000 genomes]
rs12588029	0.90[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379147	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379229	0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102616	1.00[CHB][hapmap]
rs17102686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17102757	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17102836	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102844	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779061	0.81[AMR][1000 genomes]
rs1813030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1950559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1953419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1958562	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1959146	0.87[ASW][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959147	1.00[ASW][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2002691	0.87[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411819	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28390075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28430347	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28452027	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28695252	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28830595	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28871950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898817	1.00[ASW][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898819	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783707	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783712	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4516142	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45549535	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57638372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970730	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573623	0.90[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141326	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145319	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7160505	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284130	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73284149	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8014146	0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015947	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323462	1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs945319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9972109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	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
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 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	chr14:65898400-65935600	Weak transcription	Gastric	stomach
3	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:65902200-65927000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:65902400-65928400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65906000-65926800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:65913200-65927000	Weak transcription	NH-A	brain
10	chr14:65913200-65928000	Weak transcription	Osteobl	bone
11	chr14:65913800-65928000	Weak transcription	HUVEC	blood vessel
12	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart
13	chr14:65915600-65928200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:65917200-65936600	Weak transcription	Pancreas	Pancrea
15	chr14:65918400-65928000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:65918400-65928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:65918600-65928000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:65918600-65935600	Weak transcription	Fetal Stomach	stomach
19	chr14:65918800-65927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:65918800-65928400	Weak transcription	Fetal Thymus	thymus
21	chr14:65920000-65928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:65920400-65937800	Weak transcription	Ovary	ovary
23	chr14:65920600-65926800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:65920800-65927000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:65920800-65927000	Weak transcription	Fetal Lung	lung
26	chr14:65920800-65927600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:65920800-65927600	Weak transcription	Small Intestine	intestine
28	chr14:65920800-65928000	Weak transcription	Brain Angular Gyrus	brain
29	chr14:65920800-65929000	Weak transcription	K562	blood
30	chr14:65920800-65942400	Weak transcription	Stomach Mucosa	stomach
31	chr14:65921000-65928000	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:65921600-65927000	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:65921600-65927000	Weak transcription	Brain Substantia Nigra	brain
34	chr14:65921600-65928000	Weak transcription	Brain Anterior Caudate	brain
35	chr14:65921800-65928000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:65922200-65936400	Weak transcription	Placenta	Placenta
37	chr14:65922600-65927600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:65922600-65928000	Strong transcription	Primary B cells from cord blood	blood
39	chr14:65922800-65928200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:65922800-65928200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:65922800-65928600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:65923200-65926800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:65923200-65927800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:65923200-65928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:65923200-65934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:65923200-65936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:65923200-65938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:65923400-65927800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:65923400-65928000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:65923400-65928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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