Variant report

Variant	rs9323464
Chromosome Location	chr14:66171133-66171134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66169539..66172058-chr14:66175074..66177504,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10129187	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129472	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10129732	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130560	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10135594	1.00[EUR][1000 genomes]
rs10135934	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136412	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10136763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143822	1.00[EUR][1000 genomes]
rs10145993	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10145996	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150052	0.89[ASN][1000 genomes]
rs10151921	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10162379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10162474	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10162506	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483779	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12588029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13379147	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13379229	0.90[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17102757	0.90[CHB][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17102836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17102844	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17102896	0.90[ASW][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.93[ASN][1000 genomes]
rs17102920	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17779571	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813030	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1950559	1.00[CEU][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1958562	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs2092915	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2411814	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373922	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28390075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427101	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28430347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28694288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28695252	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28823043	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28830595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28871950	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898817	0.89[ASW][hapmap];1.00[CEU][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783707	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4516142	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45549535	0.93[EUR][1000 genomes]
rs57638372	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58170348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61987818	0.89[ASN][1000 genomes]
rs6573623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7140251	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7145319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7145834	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148401	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7151690	0.90[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];0.95[MKK][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7160505	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73270603	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73270608	0.97[ASN][1000 genomes]
rs73284149	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012058	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8014146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8015947	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8017901	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323462	1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9972109	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv976295	chr14:66169959-66172648	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:66147600-66176000	Weak transcription	Stomach Mucosa	stomach
4	chr14:66156000-66179600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:66156200-66172600	Weak transcription	Primary T cells from cord blood	blood
6	chr14:66160800-66174800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:66161200-66172400	Weak transcription	Dnd41	blood
8	chr14:66161600-66174600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:66164000-66173200	Weak transcription	Aorta	Aorta
10	chr14:66166400-66173000	Weak transcription	Esophagus	oesophagus
11	chr14:66169800-66189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:66170000-66171600	Enhancers	Brain Hippocampus Middle	brain
13	chr14:66170000-66172400	Enhancers	HSMMtube	muscle
14	chr14:66170200-66171200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:66170200-66171200	Enhancers	Brain Angular Gyrus	brain
16	chr14:66170200-66171400	Enhancers	Brain Germinal Matrix	brain
17	chr14:66170200-66171600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:66170200-66171600	Enhancers	GM12878-XiMat	blood
19	chr14:66170200-66171800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:66170200-66171800	Enhancers	Osteobl	bone
21	chr14:66170200-66172000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:66170200-66172000	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:66170200-66172400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:66170400-66171200	Enhancers	Brain Substantia Nigra	brain
25	chr14:66170400-66171200	Enhancers	Placenta	Placenta
26	chr14:66170400-66171600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:66170400-66171800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:66170400-66171800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr14:66170400-66171800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:66170400-66171800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:66170400-66171800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:66170400-66171800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:66170400-66171800	Enhancers	Brain Anterior Caudate	brain
34	chr14:66170400-66171800	Enhancers	HSMM	muscle
35	chr14:66170400-66172000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:66170400-66172000	Enhancers	NH-A	brain
37	chr14:66170400-66172200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:66170400-66174200	Weak transcription	Psoas Muscle	Psoas
39	chr14:66170400-66191400	Weak transcription	Gastric	stomach
40	chr14:66170600-66171600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:66170600-66171800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:66170600-66171800	Enhancers	Fetal Lung	lung
43	chr14:66170600-66172000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:66170600-66172000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:66170600-66173000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:66170600-66182200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:66170600-66190800	Weak transcription	Small Intestine	intestine
48	chr14:66170800-66171600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:66170800-66172200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:66170800-66172400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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