Variant report

Variant	rs73097459
Chromosome Location	chr12:40721894-40721895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40716064-40722905..12:40793507-40812339	GM12878	blood:
2	chr12:40715339..40716976-chr12:40720060..40722353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

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]
rs17128339	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]
rs73094608	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]
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]
rs73108371	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]
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	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
2	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
3	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:40674400-40760400	Weak transcription	Lung	lung
5	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:40704400-40723800	Weak transcription	Brain Anterior Caudate	brain
12	chr12:40705600-40722400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:40706800-40722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:40707800-40724400	Strong transcription	Primary B cells from cord blood	blood
15	chr12:40709800-40722400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:40712000-40736600	Weak transcription	Left Ventricle	heart
17	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
18	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:40716200-40722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
21	chr12:40717800-40724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:40719200-40723800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:40719600-40735200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:40720600-40723800	Weak transcription	A549	lung
25	chr12:40721000-40734000	Weak transcription	Esophagus	oesophagus
26	chr12:40721200-40722000	Enhancers	NHDF-Ad	bronchial
27	chr12:40721400-40722800	Strong transcription	Ovary	ovary
28	chr12:40721600-40722000	Enhancers	Osteobl	bone
29	chr12:40721600-40723400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:40721600-40726000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:40721800-40722400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:40721800-40722600	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:40721800-40723600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:40721800-40723800	Strong transcription	Adipose Nuclei	Adipose
35	chr12:40721800-40724800	Strong transcription	Liver	Liver

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