Variant report

Variant	rs7307310
Chromosome Location	chr12:40745181-40745182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1035812	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1035813	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10506148	0.82[CHB][hapmap]
rs10732751	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10748040	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10784486	0.81[ASW][hapmap]
rs10784518	0.82[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10784528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784536	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs12306060	0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1365763	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1365764	0.86[ASN][1000 genomes]
rs1365765	0.82[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs1365766	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1388596	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs1427259	0.88[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs1427261	0.88[CEU][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs1427263	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs1427267	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs1427271	0.82[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1427272	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1427273	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1465527	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1491939	0.86[CHB][hapmap]
rs1549562	0.82[EUR][1000 genomes]
rs17461964	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17484286	0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1816207	0.88[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs1822606	0.82[EUR][1000 genomes]
rs1834745	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1834746	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2069228	0.94[YRI][hapmap]
rs2081702	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2131088	0.81[CHB][hapmap]
rs2162472	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2404836	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs2723269	0.81[CHB][hapmap]
rs2896975	0.94[YRI][hapmap]
rs2896978	0.82[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs3789330	0.82[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs3861083	0.88[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs3943893	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4099579	0.88[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs4465428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4473003	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767970	0.82[CHB][hapmap]
rs4767971	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767972	0.80[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4768224	0.81[ASW][hapmap]
rs4768231	0.84[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768232	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768233	0.82[CHB][hapmap];0.80[CHD][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768234	0.82[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768235	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768238	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5017705	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs6581723	0.89[JPT][hapmap];0.82[TSI][hapmap]
rs7131694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134572	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7136122	0.89[JPT][hapmap]
rs7137437	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7137665	0.86[ASW][hapmap];0.93[YRI][hapmap]
rs715402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs721709	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs7294952	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7294958	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7296657	0.82[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302503	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs7305344	0.94[YRI][hapmap]
rs7306545	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs7306684	0.80[EUR][1000 genomes]
rs7308626	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs7311247	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7312497	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7313525	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7313895	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7314455	0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7314863	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7954061	0.82[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7955042	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7956787	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7956898	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7957057	0.86[ASW][hapmap];0.83[YRI][hapmap]
rs7957151	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7962116	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs7962370	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[GIH][hapmap];0.80[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7963086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963697	0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7963987	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs7966143	0.82[EUR][1000 genomes]
rs7971919	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs7976724	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs890575	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs919175	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs963243	0.88[YRI][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:40674400-40760400	Weak transcription	Lung	lung
4	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
8	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:40724600-40745400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:40724800-40751000	Weak transcription	Brain Anterior Caudate	brain
11	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
12	chr12:40726200-40766600	Weak transcription	A549	lung
13	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:40730000-40745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:40730000-40747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
18	chr12:40730400-40745400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:40732000-40745800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
21	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:40733400-40745600	Weak transcription	Adipose Nuclei	Adipose
24	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:40734600-40754200	Weak transcription	Esophagus	oesophagus
26	chr12:40735400-40745400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:40735600-40747000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:40737000-40751600	Weak transcription	Left Ventricle	heart
29	chr12:40737200-40754000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:40740400-40745600	Strong transcription	Primary B cells from cord blood	blood
31	chr12:40742800-40746800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:40743400-40745600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:40743600-40745200	Strong transcription	Ovary	ovary
34	chr12:40744000-40745400	Weak transcription	Liver	Liver
35	chr12:40744000-40745600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:40744400-40754200	Weak transcription	Aorta	Aorta

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