Variant report

Variant	rs7305344
Chromosome Location	chr12:40702846-40702847
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10467144	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10735931	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10748029	0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10748030	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10748033	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10748034	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10784486	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10784501	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10784503	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10784504	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10784506	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10784509	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10784528	0.94[YRI][hapmap]
rs10878358	0.86[ASN][1000 genomes]
rs10878368	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10878371	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10878377	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878441	0.82[CHB][hapmap]
rs11176013	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1427263	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1427264	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1427265	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1427266	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1427267	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1896252	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1896253	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1896254	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2069228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2114568	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2114569	0.87[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2162469	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2896975	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4310676	0.96[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4473003	0.94[YRI][hapmap]
rs4483664	0.96[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4767969	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs4768224	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4768227	0.86[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs4768229	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7137160	0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs7137665	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715402	0.94[YRI][hapmap]
rs721709	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs721711	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs721712	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs721713	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7298930	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7302503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307276	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7307310	0.94[YRI][hapmap]
rs7307562	0.81[CHB][hapmap]
rs7308193	0.96[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7488873	0.87[ASN][1000 genomes]
rs7957057	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7963086	0.94[YRI][hapmap]
rs7979341	0.88[ASN][1000 genomes]
rs963243	0.96[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[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	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	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
2	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
3	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
4	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
5	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
7	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:40674400-40760400	Weak transcription	Lung	lung
9	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:40680400-40709000	Weak transcription	Ovary	ovary
11	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:40690400-40709200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:40692400-40711600	Weak transcription	Adipose Nuclei	Adipose
18	chr12:40695600-40703800	Weak transcription	A549	lung
19	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:40697800-40703600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:40699600-40721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:40700400-40703400	Weak transcription	Liver	Liver
23	chr12:40701200-40703600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:40702400-40704400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:40702400-40706800	Strong transcription	Primary B cells from cord blood	blood
26	chr12:40702800-40703800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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