Variant report

Variant	rs12505149
Chromosome Location	chr4:76699622-76699623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10016782	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10028291	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10031352	0.82[AFR][1000 genomes]
rs10031616	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033315	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212995	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097112	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097113	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097122	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11727895	0.87[AFR][1000 genomes]
rs11728073	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730896	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938067	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11943497	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508992	0.87[AFR][1000 genomes]
rs13102733	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13110602	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133144	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13133472	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13134891	0.81[AMR][1000 genomes]
rs13145290	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13147276	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17000786	0.85[AFR][1000 genomes]
rs186563	0.89[AFR][1000 genomes]
rs2047989	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271472	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28680723	0.82[AFR][1000 genomes]
rs2869175	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2904018	0.84[ASN][1000 genomes]
rs324686	0.86[AFR][1000 genomes]
rs324688	0.89[AFR][1000 genomes]
rs324690	0.89[AFR][1000 genomes]
rs324691	0.89[AFR][1000 genomes]
rs324693	0.89[AFR][1000 genomes]
rs324696	0.89[AFR][1000 genomes]
rs324697	0.89[AFR][1000 genomes]
rs324698	0.86[AFR][1000 genomes]
rs324700	0.89[AFR][1000 genomes]
rs324701	0.89[AFR][1000 genomes]
rs324703	0.92[AFR][1000 genomes]
rs324709	0.92[AFR][1000 genomes]
rs324712	0.91[AFR][1000 genomes]
rs324713	0.91[AFR][1000 genomes]
rs324722	0.90[AFR][1000 genomes]
rs324723	0.92[AFR][1000 genomes]
rs324727	0.89[AFR][1000 genomes]
rs324730	0.89[AFR][1000 genomes]
rs324731	0.87[AFR][1000 genomes]
rs324733	0.87[AFR][1000 genomes]
rs324735	0.92[AFR][1000 genomes]
rs324738	0.89[AFR][1000 genomes]
rs324740	0.88[AFR][1000 genomes]
rs3796481	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4262008	0.83[AFR][1000 genomes]
rs4446339	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4859404	0.81[EUR][1000 genomes]
rs4859405	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4859406	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859408	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859409	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859549	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859552	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859554	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664143	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62318556	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6531901	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827016	0.89[AFR][1000 genomes]
rs6829993	0.82[EUR][1000 genomes]
rs6843016	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6845147	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6846575	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6847333	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655464	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657198	0.83[AFR][1000 genomes]
rs7661037	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7665517	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693127	0.87[AFR][1000 genomes]
rs905954	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987561	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
3	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
4	chr4:76671600-76707800	Weak transcription	Right Ventricle	heart
5	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:76676400-76704800	Weak transcription	Aorta	Aorta
8	chr4:76676400-76704800	Weak transcription	Gastric	stomach
9	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
10	chr4:76677000-76710200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:76685800-76719200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:76687600-76716200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:76687800-76705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:76689400-76706400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr4:76689400-76724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:76689600-76705800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:76689800-76709200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:76690400-76704000	Weak transcription	Fetal Heart	heart
22	chr4:76691200-76713600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:76691200-76717000	Strong transcription	Placenta	Placenta
24	chr4:76691400-76715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:76691600-76701600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:76691600-76706000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr4:76691600-76706400	Strong transcription	Osteobl	bone
28	chr4:76691600-76707200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:76691600-76710000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:76691600-76710400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:76691800-76701000	Strong transcription	HepG2	liver
32	chr4:76691800-76701600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:76691800-76702000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:76691800-76708600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:76691800-76716800	Strong transcription	Fetal Intestine Large	intestine
36	chr4:76692000-76701600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:76692000-76706000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:76692000-76706000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:76692000-76706200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:76692000-76709800	Strong transcription	Fetal Thymus	thymus
41	chr4:76692000-76717400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr4:76692400-76708600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:76693200-76702200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:76694400-76701400	Strong transcription	HUVEC	blood vessel
45	chr4:76694800-76701400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr4:76694800-76706600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr4:76695000-76701000	Strong transcription	NH-A	brain
48	chr4:76695000-76708400	Strong transcription	HSMM	muscle
49	chr4:76695000-76717200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:76695200-76701200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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