Variant report

Variant	rs60121386
Chromosome Location	chr14:96796510-96796511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs28701482	1.00[AMR][1000 genomes]
rs55688559	1.00[AMR][1000 genomes]
rs56265756	1.00[AMR][1000 genomes]
rs56296574	1.00[AMR][1000 genomes]
rs58550318	1.00[AMR][1000 genomes]
rs59461473	1.00[AMR][1000 genomes]
rs60248045	1.00[AMR][1000 genomes]
rs7146082	1.00[AMR][1000 genomes]
rs7146728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349211	1.00[AMR][1000 genomes]
rs73349218	1.00[AMR][1000 genomes]
rs73363250	1.00[AMR][1000 genomes]
rs73363256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363276	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363284	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365110	1.00[AMR][1000 genomes]
rs73365112	1.00[AMR][1000 genomes]
rs74086703	1.00[AMR][1000 genomes]
rs74086710	1.00[AMR][1000 genomes]
rs74086716	1.00[AMR][1000 genomes]
rs74086718	1.00[AMR][1000 genomes]
rs74090353	1.00[AMR][1000 genomes]
rs74090354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043142	chr14:96096263-96978016	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv542177	chr14:96096263-96978016	Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv530800	chr14:96253695-96920094	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96747400-96797200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:96754200-96797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:96756400-96811200	Weak transcription	Hela-S3	cervix
4	chr14:96757000-96812800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:96757000-96816000	Weak transcription	NHEK	skin
6	chr14:96764800-96808200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:96765000-96799000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr14:96765400-96804000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:96765600-96807600	Weak transcription	Fetal Heart	heart
10	chr14:96766800-96800600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:96767400-96801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:96768000-96809200	Weak transcription	HMEC	breast
13	chr14:96770600-96815400	Weak transcription	Right Ventricle	heart
14	chr14:96771600-96807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:96771800-96797200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:96774000-96806800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:96776400-96807600	Weak transcription	Gastric	stomach
18	chr14:96776400-96815800	Weak transcription	Spleen	Spleen
19	chr14:96777600-96797600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:96777600-96806800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:96777600-96806800	Weak transcription	HepG2	liver
22	chr14:96777600-96810000	Weak transcription	A549	lung
23	chr14:96777600-96814800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:96779800-96806200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:96780800-96798800	Strong transcription	Primary T cells from cord blood	blood
26	chr14:96781400-96827800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:96782800-96796800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:96783400-96797200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:96783400-96810000	Weak transcription	NHLF	lung
30	chr14:96783800-96797200	Weak transcription	Psoas Muscle	Psoas
31	chr14:96783800-96827000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:96784000-96802800	Weak transcription	HUVEC	blood vessel
33	chr14:96785400-96809600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:96785600-96796800	Weak transcription	Lung	lung
35	chr14:96785600-96797200	Weak transcription	Fetal Brain Male	brain
36	chr14:96785600-96807600	Weak transcription	Pancreas	Pancrea
37	chr14:96785600-96828000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:96785600-96828000	Weak transcription	Aorta	Aorta
39	chr14:96787600-96801600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:96788000-96805200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:96788400-96819600	Weak transcription	Esophagus	oesophagus
42	chr14:96789200-96806000	Weak transcription	Osteobl	bone
43	chr14:96790200-96800200	Weak transcription	Fetal Lung	lung
44	chr14:96790200-96805000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:96790200-96808000	Weak transcription	Colonic Mucosa	Colon
46	chr14:96790400-96825800	Weak transcription	Small Intestine	intestine
47	chr14:96790600-96798600	Weak transcription	Brain Substantia Nigra	brain
48	chr14:96790800-96797400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:96791000-96807400	Weak transcription	GM12878-XiMat	blood
50	chr14:96791400-96803000	Weak transcription	Fetal Muscle Leg	muscle

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