Variant report

Variant	rs7134408
Chromosome Location	chr12:40757533-40757534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10459265	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs10467146	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735934	0.90[CHB][hapmap]
rs10784462	0.81[CHB][hapmap]
rs10784486	0.87[CEU][hapmap]
rs10784522	0.81[CHB][hapmap]
rs10784548	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784585	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs10878405	0.85[CHB][hapmap]
rs10878441	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175845	0.81[CHB][hapmap]
rs11175911	0.81[CHB][hapmap]
rs11175922	0.81[CHB][hapmap]
rs11176013	0.80[CHB][hapmap]
rs11176030	0.81[CHB][hapmap]
rs11176421	0.80[EUR][1000 genomes]
rs11564148	0.81[CHB][hapmap]
rs12314982	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12367542	0.81[CHB][hapmap]
rs12369882	0.81[CHB][hapmap]
rs12426362	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365770	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444221	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465528	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17443815	0.81[CHB][hapmap]
rs17444124	0.85[CHB][hapmap]
rs17466605	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519846	0.81[CHB][hapmap]
rs2069228	0.81[CEU][hapmap]
rs2081700	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2081701	0.88[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2896975	0.81[CEU][hapmap]
rs2896982	0.92[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3761863	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789328	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886747	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3906483	0.88[EUR][1000 genomes]
rs4280068	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4310676	0.88[CEU][hapmap]
rs4351885	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4483664	0.88[CEU][hapmap]
rs4767973	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768236	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768237	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5010412	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581667	0.90[CHB][hapmap]
rs6581668	0.85[CHB][hapmap];0.84[YRI][hapmap]
rs7302841	0.80[CHB][hapmap]
rs7307562	0.84[CHB][hapmap]
rs7308193	0.88[CEU][hapmap]
rs7309197	0.81[CHB][hapmap]
rs7310390	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs7954300	0.92[CEU][hapmap]
rs7954318	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7957057	0.87[CEU][hapmap]
rs7957754	0.81[CHB][hapmap]
rs7968048	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968721	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7973058	0.81[CHB][hapmap]
rs7975124	0.92[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7976715	0.88[ASN][1000 genomes]
rs963243	0.81[CEU][hapmap]

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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40674400-40760400	Weak transcription	Lung	lung
3	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
7	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
8	chr12:40726200-40766600	Weak transcription	A549	lung
9	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
11	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:40746000-40760600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:40746200-40760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:40746200-40760400	Weak transcription	Ovary	ovary
16	chr12:40747200-40759000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:40747200-40762400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:40751400-40762600	Strong transcription	Liver	Liver
21	chr12:40751800-40763600	Weak transcription	Brain Anterior Caudate	brain
22	chr12:40752000-40758000	Weak transcription	Left Ventricle	heart
23	chr12:40752400-40758800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:40753800-40758200	Strong transcription	Adipose Nuclei	Adipose
25	chr12:40754000-40762000	Strong transcription	Primary B cells from cord blood	blood
26	chr12:40754800-40758800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:40754800-40764000	Weak transcription	Esophagus	oesophagus
28	chr12:40754800-40765600	Weak transcription	Aorta	Aorta
29	chr12:40754800-40767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:40755800-40761600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:40756000-40763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:40757400-40759000	Enhancers	HUVEC	blood vessel

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