Variant report

Variant	rs12066955
Chromosome Location	chr1:59345208-59345209
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	chr1:59244354..59252225-chr1:59338738..59357283,49	K562	blood:
2	chr1:59242511..59252251-chr1:59329388..59355607,72	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4469734	1.00[AMR][1000 genomes]
rs4565740	1.00[AMR][1000 genomes]
rs4647015	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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59319800-59361400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:59340800-59346200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:59340800-59346400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:59340800-59348600	Weak transcription	Placenta	Placenta
5	chr1:59341000-59347000	Weak transcription	Osteobl	bone
6	chr1:59341000-59347200	Weak transcription	Gastric	stomach
7	chr1:59341000-59347200	Weak transcription	Ovary	ovary
8	chr1:59341000-59347200	Weak transcription	HSMM	muscle
9	chr1:59341000-59348400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:59341000-59348600	Weak transcription	Fetal Brain Male	brain
11	chr1:59341200-59346400	Weak transcription	HMEC	breast
12	chr1:59341200-59346600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:59341200-59346600	Weak transcription	HUVEC	blood vessel
14	chr1:59341200-59348600	Weak transcription	HSMMtube	muscle
15	chr1:59341200-59350200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:59341400-59346200	Weak transcription	Right Ventricle	heart
17	chr1:59341400-59346800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:59341400-59348600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:59341600-59348800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:59341800-59346200	Weak transcription	Psoas Muscle	Psoas
21	chr1:59341800-59346200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:59341800-59346200	Weak transcription	HepG2	liver
23	chr1:59341800-59346200	Weak transcription	K562	blood
24	chr1:59341800-59346600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:59341800-59347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:59341800-59347000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:59341800-59347000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:59341800-59347000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:59341800-59347200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:59341800-59347600	Weak transcription	Brain Anterior Caudate	brain
31	chr1:59342000-59346400	Weak transcription	Fetal Intestine Small	intestine
32	chr1:59342000-59347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:59342000-59347000	Weak transcription	Stomach Mucosa	stomach
34	chr1:59342800-59347200	Weak transcription	Pancreas	Pancrea
35	chr1:59344800-59345400	Enhancers	NHDF-Ad	bronchial
36	chr1:59344800-59345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:59344800-59356000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:59345000-59345400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:59345000-59348600	Enhancers	Monocytes-CD14+_RO01746	blood

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