Variant report

Variant	rs3847650
Chromosome Location	chr12:118565138-118565139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118564004..118566847-chr12:118573049..118575339,2	K562	blood:
2	chr12:118562530..118565335-chr12:118572091..118573836,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10850961	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068830	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068836	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11068844	0.85[AFR][1000 genomes]
rs11830698	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2088702	0.88[AFR][1000 genomes]
rs3927167	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3956808	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4590911	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6490167	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490168	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71450262	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7314781	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7976200	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7978165	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7980628	0.85[AMR][1000 genomes];0.87[EUR][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:59 , 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	chr12:118554400-118566000	Weak transcription	Small Intestine	intestine
11	chr12:118558800-118572800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:118559000-118565600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:118559000-118569200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:118559200-118566600	Weak transcription	Fetal Lung	lung
15	chr12:118559200-118567200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:118559200-118569400	Weak transcription	Adipose Nuclei	Adipose
17	chr12:118559200-118569400	Weak transcription	Dnd41	blood
18	chr12:118559200-118569600	Weak transcription	GM12878-XiMat	blood
19	chr12:118559200-118569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:118559200-118570000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:118559200-118572600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:118559200-118572600	Weak transcription	NHEK	skin
23	chr12:118559200-118572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:118559200-118573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:118559200-118573000	Weak transcription	Fetal Kidney	kidney
26	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:118559400-118567400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:118559400-118569200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:118559400-118569200	Weak transcription	A549	lung
31	chr12:118559400-118569400	Weak transcription	Brain Anterior Caudate	brain
32	chr12:118559400-118569400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:118559400-118569800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:118559400-118572600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:118559400-118572800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:118559800-118565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:118559800-118567400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:118560800-118572800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:118561400-118565600	Enhancers	Stomach Mucosa	stomach
40	chr12:118561600-118572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:118561600-118573000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:118562800-118569400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:118563000-118565400	Enhancers	Liver	Liver
44	chr12:118563200-118573400	Weak transcription	Lung	lung
45	chr12:118563400-118565400	Enhancers	Pancreas	Pancrea
46	chr12:118564200-118565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:118564200-118569400	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:118564200-118572800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:118564400-118565200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:118564400-118565200	Enhancers	Duodenum Mucosa	Duodenum

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