Variant report

Variant	rs73108371
Chromosome Location	chr12:40680551-40680552
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11564105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564134	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564188	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564189	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564195	1.00[AMR][1000 genomes]
rs11564208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564211	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128169	1.00[AMR][1000 genomes]
rs17519531	1.00[AMR][1000 genomes]
rs17519580	1.00[AMR][1000 genomes]
rs3906865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092794	1.00[AMR][1000 genomes]
rs73092800	1.00[AMR][1000 genomes]
rs73093531	1.00[AMR][1000 genomes]
rs73094944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102253	1.00[AMR][1000 genomes]
rs73102259	1.00[AMR][1000 genomes]
rs73102280	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102282	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102293	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105433	1.00[AMR][1000 genomes]
rs73105445	1.00[AMR][1000 genomes]
rs73105478	1.00[AMR][1000 genomes]
rs73105482	1.00[AMR][1000 genomes]
rs73106314	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106349	1.00[AMR][1000 genomes]
rs73106357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107664	1.00[AMR][1000 genomes]
rs73107677	1.00[AMR][1000 genomes]
rs73108321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108336	1.00[AFR][1000 genomes]
rs73108345	1.00[AMR][1000 genomes]
rs73108347	1.00[AMR][1000 genomes]
rs73108352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7316047	1.00[AMR][1000 genomes]
rs7966059	1.00[AMR][1000 genomes]
rs7974320	0.86[AFR][1000 genomes];1.00[AMR][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:36 , 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	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
5	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
6	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
11	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
12	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:40670400-40684000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:40670800-40683600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40671200-40681600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:40672800-40681000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:40674400-40760400	Weak transcription	Lung	lung
21	chr12:40676000-40684600	Strong transcription	Primary B cells from cord blood	blood
22	chr12:40676400-40683600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:40677200-40682400	Strong transcription	Adipose Nuclei	Adipose
25	chr12:40677400-40683400	Strong transcription	Liver	Liver
26	chr12:40677800-40683000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:40678800-40689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
29	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
30	chr12:40680000-40680800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:40680200-40681000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:40680200-40681200	Flanking Active TSS	A549	lung
33	chr12:40680200-40682000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:40680400-40680800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:40680400-40692600	Weak transcription	Small Intestine	intestine
36	chr12:40680400-40709000	Weak transcription	Ovary	ovary

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