Variant report

Variant	rs11850386
Chromosome Location	chr14:31762328-31762329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11845149	0.86[AFR][1000 genomes]
rs11845215	0.82[AFR][1000 genomes]
rs11847409	0.86[AFR][1000 genomes]
rs11847480	0.82[AFR][1000 genomes]
rs11850492	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41508745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142058	0.86[AFR][1000 genomes]
rs8004243	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31753200-31762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:31753200-31764200	Weak transcription	NHLF	lung
4	chr14:31753200-31766400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:31753200-31768000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:31753200-31769400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:31753200-31776600	Weak transcription	Aorta	Aorta
8	chr14:31753400-31767800	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:31753400-31769400	Weak transcription	Brain Anterior Caudate	brain
10	chr14:31753400-31769400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:31753400-31774000	Weak transcription	NHDF-Ad	bronchial
12	chr14:31753600-31764000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:31753600-31772600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:31755200-31769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:31756200-31767800	Weak transcription	Left Ventricle	heart
16	chr14:31756200-31769800	Weak transcription	Liver	Liver
17	chr14:31756400-31769600	Weak transcription	Lung	lung
18	chr14:31756600-31769200	Weak transcription	Spleen	Spleen
19	chr14:31757200-31764400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:31757200-31769200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:31757200-31769400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:31757800-31769400	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:31758000-31775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:31758800-31765200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:31759200-31764000	Weak transcription	Hela-S3	cervix
26	chr14:31759200-31769200	Weak transcription	Primary T cells from cord blood	blood
27	chr14:31759600-31764400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:31759600-31769400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:31759800-31766800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:31759800-31769400	Weak transcription	Fetal Brain Male	brain
31	chr14:31760000-31764200	Enhancers	HUVEC	blood vessel
32	chr14:31760000-31765800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:31760200-31769200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:31760600-31767800	Weak transcription	Brain Angular Gyrus	brain
35	chr14:31760600-31779400	Weak transcription	Pancreas	Pancrea
36	chr14:31760800-31762400	Weak transcription	Adipose Nuclei	Adipose
37	chr14:31760800-31763400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:31760800-31764400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:31760800-31768000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:31760800-31769200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:31760800-31769200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:31760800-31771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:31760800-31772800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:31760800-31773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:31760800-31774000	Weak transcription	Primary B cells from cord blood	blood
46	chr14:31760800-31776400	Weak transcription	Stomach Mucosa	stomach
47	chr14:31760800-31781000	Weak transcription	Fetal Kidney	kidney
48	chr14:31761000-31762400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:31761000-31762400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:31761000-31762400	Weak transcription	Primary monocytes fromperipheralblood	blood

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