Variant report

Variant	rs4531652
Chromosome Location	chr14:39823783-39823784
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1056345	0.82[AMR][1000 genomes]
rs11560068	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12891025	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12891299	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17621388	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17694832	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2415542	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34173090	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34983854	0.85[AMR][1000 genomes]
rs7143942	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72675474	0.85[AMR][1000 genomes]
rs8017737	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020472	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020596	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
4	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
5	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
6	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
8	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
10	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
11	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
13	chr14:39802800-39828400	Weak transcription	Ovary	ovary
14	chr14:39802800-39828400	Weak transcription	Pancreas	Pancrea
15	chr14:39802800-39828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:39802800-39835400	Weak transcription	Gastric	stomach
17	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
18	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
19	chr14:39803000-39845800	Weak transcription	NHEK	skin
20	chr14:39803200-39824600	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
23	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:39803400-39843800	Weak transcription	HMEC	breast
26	chr14:39807000-39824400	Weak transcription	NH-A	brain
27	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
28	chr14:39808400-39828400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:39808400-39828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:39808600-39828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:39808600-39828800	Weak transcription	Fetal Heart	heart
33	chr14:39809600-39832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:39809800-39828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
37	chr14:39812400-39832800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:39812400-39833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:39815600-39832800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:39815800-39824600	Weak transcription	HSMM	muscle
41	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
43	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
44	chr14:39817200-39835400	Weak transcription	Fetal Stomach	stomach
45	chr14:39817400-39828400	Weak transcription	Lung	lung
46	chr14:39817400-39835400	Weak transcription	Left Ventricle	heart
47	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:39817600-39828400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:39817600-39828400	Weak transcription	Fetal Intestine Small	intestine
50	chr14:39817600-39833400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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