Variant report

Variant	rs57987958
Chromosome Location	chr14:103872700-103872701
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10129401	1.00[AMR][1000 genomes]
rs10129621	1.00[AMR][1000 genomes]
rs10130887	1.00[AMR][1000 genomes]
rs10134819	1.00[AMR][1000 genomes]
rs10138787	1.00[AMR][1000 genomes]
rs10139205	1.00[AMR][1000 genomes]
rs10145934	1.00[AMR][1000 genomes]
rs10149860	1.00[AMR][1000 genomes]
rs10220595	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100454	1.00[AMR][1000 genomes]
rs28524598	1.00[AMR][1000 genomes]
rs28701683	1.00[AMR][1000 genomes]
rs28701880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711428	1.00[AMR][1000 genomes]
rs56324843	1.00[AMR][1000 genomes]
rs56666624	1.00[AMR][1000 genomes]
rs58869129	1.00[AMR][1000 genomes]
rs61733762	1.00[AMR][1000 genomes]
rs7141712	1.00[AMR][1000 genomes]
rs7148427	1.00[AMR][1000 genomes]
rs7150651	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155401	1.00[AMR][1000 genomes]
rs7158326	1.00[AMR][1000 genomes]
rs7158972	1.00[AMR][1000 genomes]
rs73353046	1.00[AMR][1000 genomes]
rs73359246	1.00[AMR][1000 genomes]
rs73359248	1.00[AMR][1000 genomes]
rs73359263	1.00[AMR][1000 genomes]
rs73359299	1.00[AMR][1000 genomes]
rs73359301	1.00[AMR][1000 genomes]
rs73361317	1.00[AMR][1000 genomes]
rs73361323	1.00[AMR][1000 genomes]
rs73361328	1.00[AMR][1000 genomes]
rs73361331	1.00[AMR][1000 genomes]
rs73361334	1.00[AMR][1000 genomes]
rs73361335	1.00[AMR][1000 genomes]
rs73361345	1.00[AMR][1000 genomes]
rs73361349	1.00[AMR][1000 genomes]
rs73365132	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006030	1.00[AMR][1000 genomes]
rs8009277	1.00[AMR][1000 genomes]
rs8015505	1.00[AMR][1000 genomes]
rs879551	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
2	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
5	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:103868400-103878400	Weak transcription	Fetal Kidney	kidney
7	chr14:103868400-103880000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:103869200-103874400	Weak transcription	HepG2	liver
12	chr14:103869200-103878400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:103869400-103874200	Weak transcription	Small Intestine	intestine
14	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:103870400-103874000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:103870600-103878400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:103870800-103873400	Weak transcription	Hela-S3	cervix
18	chr14:103870800-103873400	Weak transcription	NH-A	brain
19	chr14:103870800-103874000	Weak transcription	A549	lung
20	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
22	chr14:103871000-103873200	Weak transcription	Primary T cells from cord blood	blood
23	chr14:103871000-103873400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:103871000-103874200	Weak transcription	K562	blood
25	chr14:103871000-103874800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:103871000-103874800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:103871000-103874800	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:103871000-103875200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:103871000-103875200	Strong transcription	GM12878-XiMat	blood
30	chr14:103871000-103875400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:103871000-103878000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:103871000-103878600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
35	chr14:103871000-103883600	Strong transcription	Dnd41	blood
36	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:103871200-103873000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:103871200-103873400	Weak transcription	Primary B cells from cord blood	blood
39	chr14:103871200-103873400	Weak transcription	HMEC	breast
40	chr14:103871200-103873400	Weak transcription	Osteobl	bone
41	chr14:103871200-103874200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:103871200-103874200	Weak transcription	Gastric	stomach
43	chr14:103871200-103874400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:103871200-103874800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:103871200-103874800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:103871200-103874800	Weak transcription	Brain Substantia Nigra	brain
47	chr14:103871200-103875000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:103871200-103878400	Weak transcription	Esophagus	oesophagus
49	chr14:103871200-103878600	Weak transcription	NHLF	lung
50	chr14:103871200-103880000	Weak transcription	NHDF-Ad	bronchial

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