Variant report

Variant	rs11622829
Chromosome Location	chr14:66191782-66191783
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483785	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1054218	0.85[CEU][hapmap]
rs1075566	0.85[EUR][1000 genomes]
rs11158601	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11158602	0.81[EUR][1000 genomes]
rs11158611	0.85[EUR][1000 genomes]
rs11621680	0.96[CEU][hapmap]
rs11622014	0.83[EUR][1000 genomes]
rs11622271	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11624045	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11624104	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11625362	0.86[EUR][1000 genomes]
rs11625882	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11627067	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11627184	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627185	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627578	0.86[EUR][1000 genomes]
rs11627605	0.86[EUR][1000 genomes]
rs11628765	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11628840	0.86[EUR][1000 genomes]
rs12050182	0.84[EUR][1000 genomes]
rs12050231	0.85[EUR][1000 genomes]
rs12586842	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12588838	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12879805	0.85[EUR][1000 genomes]
rs12882200	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12883382	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12886334	0.87[EUR][1000 genomes]
rs12887134	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12887673	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12887957	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12888212	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889002	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12890902	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12894034	0.85[EUR][1000 genomes]
rs12894466	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12894902	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12896663	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1535173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1958561	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1998036	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2064694	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2149841	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2268961	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2268962	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2300865	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2411351	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2411355	0.85[EUR][1000 genomes]
rs2411357	0.85[EUR][1000 genomes]
rs2411404	0.85[EUR][1000 genomes]
rs2411405	0.85[EUR][1000 genomes]
rs3783709	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4143898	0.92[CEU][hapmap]
rs4581615	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4902415	0.86[EUR][1000 genomes]
rs4902416	0.86[EUR][1000 genomes]
rs6573624	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6573626	0.84[EUR][1000 genomes]
rs67957534	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7142018	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7142165	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7142219	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7142651	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7146742	0.89[CEU][hapmap]
rs7146829	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7149301	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7155541	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7157449	0.85[EUR][1000 genomes]
rs7161123	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs730807	0.85[EUR][1000 genomes]
rs743084	0.86[EUR][1000 genomes]
rs743085	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7493004	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs761831	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8005710	0.84[EUR][1000 genomes]
rs8010876	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8012278	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs8018278	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs927004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66179000-66206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:66182800-66195800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:66184600-66192600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:66184600-66196000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:66184600-66198600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:66185400-66209000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:66186400-66192800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:66186400-66208800	Weak transcription	Fetal Brain Female	brain
9	chr14:66186600-66192200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:66186800-66193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:66187000-66209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:66187200-66192600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:66187200-66193800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:66187400-66208600	Weak transcription	Placenta	Placenta
15	chr14:66187600-66193800	Weak transcription	Left Ventricle	heart
16	chr14:66187600-66200000	Weak transcription	Brain Substantia Nigra	brain
17	chr14:66187800-66192000	Weak transcription	Fetal Brain Male	brain
18	chr14:66187800-66193000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:66187800-66193200	Weak transcription	Fetal Stomach	stomach
20	chr14:66188000-66193400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:66188000-66193800	Weak transcription	Brain Germinal Matrix	brain
22	chr14:66188000-66196800	Strong transcription	Primary B cells from cord blood	blood
23	chr14:66188000-66210800	Weak transcription	Fetal Lung	lung
24	chr14:66188200-66201400	Weak transcription	Psoas Muscle	Psoas
25	chr14:66188400-66193600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:66188400-66193800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr14:66188400-66197000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:66188400-66210600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:66188600-66194400	Strong transcription	Fetal Intestine Large	intestine
30	chr14:66188600-66195000	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:66188800-66191800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:66188800-66208800	Weak transcription	Liver	Liver
33	chr14:66189000-66196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:66189000-66209000	Weak transcription	NHDF-Ad	bronchial
35	chr14:66189600-66192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:66189600-66194000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:66189600-66210800	Weak transcription	NHLF	lung
38	chr14:66189800-66193600	Weak transcription	Spleen	Spleen
39	chr14:66189800-66209000	Weak transcription	HSMMtube	muscle
40	chr14:66190000-66191800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:66190000-66208800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:66190000-66210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:66190200-66191800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:66190200-66192200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:66190200-66192400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:66190200-66193800	Weak transcription	Thymus	Thymus
47	chr14:66190200-66197800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr14:66190200-66198400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:66190200-66210800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:66190400-66192000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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