Variant report

Variant	rs4151613
Chromosome Location	chr13:49048173-49048174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12583514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12583617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12583644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12583787	1.00[ASN][1000 genomes]
rs12585384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585742	1.00[EUR][1000 genomes]
rs12857866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1926597	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2148515	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3092865	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3092898	0.87[AFR][1000 genomes]
rs4151472	1.00[EUR][1000 genomes]
rs4151479	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4151522	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4151598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449268	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55686933	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57394470	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7319276	1.00[ASN][1000 genomes]
rs7326934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73479216	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495016	0.97[AFR][1000 genomes]
rs73495018	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74077638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316384	1.00[ASN][1000 genomes]
rs9316386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316398	1.00[ASN][1000 genomes]
rs9331984	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331994	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591176	1.00[ASN][1000 genomes]
rs9595914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9595924	1.00[ASN][1000 genomes]
rs9595926	1.00[ASN][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49017400-49062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:49018000-49062400	Weak transcription	Fetal Brain Male	brain
3	chr13:49020800-49062000	Weak transcription	Fetal Kidney	kidney
4	chr13:49021200-49058600	Weak transcription	Hela-S3	cervix
5	chr13:49023800-49061000	Weak transcription	Small Intestine	intestine
6	chr13:49023800-49073800	Weak transcription	NH-A	brain
7	chr13:49024000-49059000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:49025600-49056800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
10	chr13:49027600-49049200	Weak transcription	A549	lung
11	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:49029200-49062000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:49029400-49052400	Weak transcription	K562	blood
14	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:49031600-49049600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:49031600-49055800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:49031600-49066200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:49031800-49052000	Weak transcription	HepG2	liver
19	chr13:49031800-49052600	Weak transcription	Placenta	Placenta
20	chr13:49031800-49059200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:49031800-49060200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:49031800-49060600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:49031800-49065400	Weak transcription	Brain Substantia Nigra	brain
24	chr13:49032000-49050800	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:49032000-49065600	Weak transcription	Brain Anterior Caudate	brain
26	chr13:49032000-49066200	Weak transcription	Colonic Mucosa	Colon
27	chr13:49032200-49053400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:49032200-49054000	Weak transcription	Aorta	Aorta
29	chr13:49032200-49056000	Weak transcription	Brain Germinal Matrix	brain
30	chr13:49032400-49049000	Weak transcription	Lung	lung
31	chr13:49032400-49052600	Weak transcription	NHLF	lung
32	chr13:49032400-49053000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:49032400-49062600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:49032400-49066200	Weak transcription	Spleen	Spleen
35	chr13:49032400-49066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:49032400-49066600	Weak transcription	Ovary	ovary
37	chr13:49032400-49067400	Weak transcription	Pancreas	Pancrea
38	chr13:49032400-49067600	Weak transcription	Gastric	stomach
39	chr13:49032600-49051600	Weak transcription	HMEC	breast
40	chr13:49032600-49055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:49032800-49066200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr13:49034400-49073800	Weak transcription	Esophagus	oesophagus
43	chr13:49035200-49073400	Weak transcription	Fetal Intestine Small	intestine
44	chr13:49035400-49052800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:49035600-49052000	Weak transcription	Liver	Liver
46	chr13:49035600-49052800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:49035600-49053400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:49035600-49065400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr13:49035600-49066000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr13:49035800-49050600	Weak transcription	Adipose Nuclei	Adipose

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