Variant report

Variant	rs10145479
Chromosome Location	chr14:66189762-66189763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10083327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10083356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10129221	1.00[AMR][1000 genomes]
rs10129828	1.00[AMR][1000 genomes]
rs10131616	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135224	0.89[AFR][1000 genomes]
rs10138881	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139190	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140494	1.00[AMR][1000 genomes]
rs10141632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143944	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144478	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146510	1.00[AMR][1000 genomes]
rs10147262	1.00[AMR][1000 genomes]
rs10162357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102765	1.00[AMR][1000 genomes]
rs17102767	1.00[AMR][1000 genomes]
rs17102769	1.00[AMR][1000 genomes]
rs28370375	1.00[AMR][1000 genomes]
rs28375638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28399233	1.00[AMR][1000 genomes]
rs28415772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28571055	1.00[AMR][1000 genomes]
rs28612256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28716649	1.00[AMR][1000 genomes]
rs28789146	1.00[AMR][1000 genomes]
rs28789509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808288	1.00[AMR][1000 genomes]
rs28808905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28864090	1.00[AMR][1000 genomes]
rs28890806	1.00[AMR][1000 genomes]
rs57330939	1.00[AMR][1000 genomes]
rs73286155	0.80[AFR][1000 genomes]
rs73286159	0.80[AFR][1000 genomes];1.00[AMR][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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66170400-66191400	Weak transcription	Gastric	stomach
2	chr14:66170600-66190800	Weak transcription	Small Intestine	intestine
3	chr14:66171600-66191400	Weak transcription	Ovary	ovary
4	chr14:66179000-66206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:66182800-66195800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:66183800-66191200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:66184600-66192600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:66184600-66196000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:66184600-66198600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:66185400-66209000	Weak transcription	Brain Angular Gyrus	brain
11	chr14:66186000-66190200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:66186200-66191400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:66186400-66191400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:66186400-66192800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:66186400-66208800	Weak transcription	Fetal Brain Female	brain
16	chr14:66186600-66192200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:66186800-66193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:66187000-66190200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:66187000-66209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:66187200-66190400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:66187200-66190800	Strong transcription	Dnd41	blood
22	chr14:66187200-66192600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:66187200-66193800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:66187400-66191200	Weak transcription	Fetal Thymus	thymus
25	chr14:66187400-66208600	Weak transcription	Placenta	Placenta
26	chr14:66187600-66190800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:66187600-66193800	Weak transcription	Left Ventricle	heart
28	chr14:66187600-66200000	Weak transcription	Brain Substantia Nigra	brain
29	chr14:66187800-66191000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:66187800-66191400	Weak transcription	Pancreas	Pancrea
31	chr14:66187800-66191400	Weak transcription	NH-A	brain
32	chr14:66187800-66192000	Weak transcription	Fetal Brain Male	brain
33	chr14:66187800-66193000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:66187800-66193200	Weak transcription	Fetal Stomach	stomach
35	chr14:66188000-66190200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:66188000-66190800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:66188000-66193400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:66188000-66193800	Weak transcription	Brain Germinal Matrix	brain
39	chr14:66188000-66196800	Strong transcription	Primary B cells from cord blood	blood
40	chr14:66188000-66210800	Weak transcription	Fetal Lung	lung
41	chr14:66188200-66201400	Weak transcription	Psoas Muscle	Psoas
42	chr14:66188400-66190200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:66188400-66190400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:66188400-66191400	Weak transcription	Aorta	Aorta
45	chr14:66188400-66193600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:66188400-66193800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr14:66188400-66197000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:66188400-66210600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:66188600-66194400	Strong transcription	Fetal Intestine Large	intestine
50	chr14:66188600-66195000	Weak transcription	Brain Hippocampus Middle	brain

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