Variant report

Variant	rs17466030
Chromosome Location	chr12:40668861-40668862
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11564113	1.00[JPT][hapmap]
rs11613829	1.00[JPT][hapmap]
rs17442490	1.00[JPT][hapmap]
rs17442882	1.00[JPT][hapmap]
rs17443421	1.00[JPT][hapmap]
rs17443552	1.00[JPT][hapmap]
rs17444103	1.00[JPT][hapmap]
rs17444542	1.00[JPT][hapmap]
rs17458745	1.00[JPT][hapmap]
rs17458773	1.00[JPT][hapmap]
rs17458974	1.00[JPT][hapmap]
rs17465716	1.00[JPT][hapmap]
rs17465849	1.00[JPT][hapmap]
rs17465891	1.00[JPT][hapmap]
rs17466220	1.00[JPT][hapmap]
rs17466269	1.00[JPT][hapmap]
rs17466297	1.00[JPT][hapmap]
rs17466339	1.00[JPT][hapmap]
rs17466451	1.00[JPT][hapmap]
rs17466633	1.00[JPT][hapmap]
rs17489480	1.00[JPT][hapmap]
rs17489666	1.00[JPT][hapmap]
rs17490013	1.00[JPT][hapmap]
rs17490578	1.00[JPT][hapmap]
rs17490620	1.00[JPT][hapmap]
rs17490762	1.00[JPT][hapmap]
rs17491110	1.00[JPT][hapmap]
rs17491410	1.00[JPT][hapmap]
rs17492138	1.00[JPT][hapmap]
rs17518427	1.00[JPT][hapmap]
rs17518441	1.00[JPT][hapmap]
rs17518476	1.00[JPT][hapmap]
rs17518672	1.00[JPT][hapmap]
rs17518735	1.00[JPT][hapmap]
rs17519797	1.00[JPT][hapmap]
rs17520634	1.00[JPT][hapmap]
rs17520655	1.00[JPT][hapmap]
rs28365202	1.00[JPT][hapmap]
rs28365243	1.00[JPT][hapmap]

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	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
3	esv3347753	chr12:40668598-40668867	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
2	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
3	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
4	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
8	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
9	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:40647600-40674000	Weak transcription	Lung	lung
11	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:40659400-40677800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:40659400-40678600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:40659400-40678600	Weak transcription	Ovary	ovary
15	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
16	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:40659600-40669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:40659600-40670000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:40659600-40670000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:40659600-40670000	Weak transcription	Liver	Liver
21	chr12:40659600-40677000	Weak transcription	A549	lung
22	chr12:40659600-40680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:40659600-40680200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
25	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
26	chr12:40660600-40671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:40666400-40671400	Weak transcription	Primary B cells from cord blood	blood
31	chr12:40667400-40678400	Weak transcription	Fetal Kidney	kidney

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