Variant report

Variant	rs17491431
Chromosome Location	chr12:40730460-40730461
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40730058..40730795-chr12:40768301..40769589,4	MCF-7	breast:
2	chr12:40718708..40719694-chr12:40730425..40731019,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17490935	1.00[AMR][1000 genomes]
rs17491013	1.00[AMR][1000 genomes]
rs17491075	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491180	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491638	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491645	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17519888	1.00[AMR][1000 genomes]
rs17519964	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17519971	1.00[AMR][1000 genomes]
rs17520006	0.92[AFR][1000 genomes]
rs17520264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17520355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17520376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17520515	0.84[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:49 , 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	chr12:40712000-40736600	Weak transcription	Left Ventricle	heart
7	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
8	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
10	chr12:40719600-40735200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:40721000-40734000	Weak transcription	Esophagus	oesophagus
12	chr12:40722400-40730800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:40722400-40736200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:40724000-40731600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:40724200-40731400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:40724600-40745400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:40724800-40751000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:40725000-40736200	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:40725000-40739200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:40725200-40732200	Strong transcription	Liver	Liver
22	chr12:40725200-40733200	Strong transcription	Primary B cells from cord blood	blood
23	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
24	chr12:40725400-40731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:40726000-40734800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:40726200-40734600	Weak transcription	HMEC	breast
27	chr12:40726200-40766600	Weak transcription	A549	lung
28	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:40727400-40731600	Weak transcription	Right Ventricle	heart
30	chr12:40728600-40732000	Strong transcription	Adipose Nuclei	Adipose
31	chr12:40729600-40730600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:40729600-40730600	Enhancers	NHEK	skin
33	chr12:40729600-40731600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:40729600-40731600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:40729800-40730600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr12:40729800-40730800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:40730000-40745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:40730000-40747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
41	chr12:40730200-40730600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:40730200-40731200	Enhancers	Fetal Heart	heart
43	chr12:40730200-40731800	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:40730200-40732000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:40730200-40734000	Weak transcription	Ovary	ovary
46	chr12:40730400-40730600	Enhancers	Stomach Smooth Muscle	stomach
47	chr12:40730400-40732000	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:40730400-40734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:40730400-40745400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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