Variant report

Variant	rs7970036
Chromosome Location	chr12:118566850-118566851
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12423154	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12423959	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017414	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936840	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3847652	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56070243	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61943518	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61943519	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61943521	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73217996	0.87[ASN][1000 genomes]
rs7956285	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7961197	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542400-118569400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:118542600-118569400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:118545400-118569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:118546400-118569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:118552800-118572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
9	chr12:118553000-118573000	Weak transcription	Fetal Brain Female	brain
10	chr12:118558800-118572800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:118559000-118569200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:118559200-118567200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:118559200-118569400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:118559200-118569400	Weak transcription	Dnd41	blood
15	chr12:118559200-118569600	Weak transcription	GM12878-XiMat	blood
16	chr12:118559200-118569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:118559200-118570000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:118559200-118572600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:118559200-118572600	Weak transcription	NHEK	skin
20	chr12:118559200-118572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:118559200-118573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:118559200-118573000	Weak transcription	Fetal Kidney	kidney
23	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
25	chr12:118559400-118567400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:118559400-118569200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:118559400-118569200	Weak transcription	A549	lung
28	chr12:118559400-118569400	Weak transcription	Brain Anterior Caudate	brain
29	chr12:118559400-118569400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:118559400-118569800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:118559400-118572600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:118559400-118572800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:118559800-118567400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:118560800-118572800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:118561600-118572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:118561600-118573000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:118562800-118569400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:118563200-118573400	Weak transcription	Lung	lung
39	chr12:118564200-118569400	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:118564200-118572800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:118564400-118569400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:118564400-118569400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:118564400-118573200	Weak transcription	Fetal Stomach	stomach
44	chr12:118564600-118569200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:118564600-118569200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:118565000-118569600	Weak transcription	Ovary	ovary
47	chr12:118565000-118572800	Weak transcription	Gastric	stomach
48	chr12:118565200-118569800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:118565200-118572800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:118565400-118569400	Weak transcription	Liver	Liver

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