Variant report

Variant	rs6137726
Chromosome Location	chr20:22672420-22672421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:22672061..22672657-chr20:22999767..23000390,2	MCF-7	breast:
2	chr20:22672036..22672960-chr20:23181325..23182023,4	MCF-7	breast:
3	chr20:22672377..22672995-chr20:23181234..23182214,2	K562	blood:
4	chr20:22671966..22672899-chr20:22955081..22955646,2	MCF-7	breast:
5	chr20:22666267..22668441-chr20:22670071..22672660,2	MCF-7	breast:
6	chr20:22672340..22672944-chr20:23042392..23043227,2	MCF-7	breast:
7	chr20:22672035..22672822-chr20:23320600..23321396,3	MCF-7	breast:
8	chr20:22670744..22673575-chr20:23180710..23182466,2	MCF-7	breast:
9	chr20:22672032..22672589-chr20:22703520..22704575,3	MCF-7	breast:

No data

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1116556	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1116557	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1571251	0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs1571252	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2148919	0.81[AMR][1000 genomes]
rs2148920	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2148921	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2148922	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2148923	0.82[AMR][1000 genomes]
rs4999222	0.82[AMR][1000 genomes]
rs6036176	0.81[EUR][1000 genomes]
rs6036177	0.83[EUR][1000 genomes]
rs6036178	0.82[EUR][1000 genomes]
rs6036192	0.82[AMR][1000 genomes]
rs6048268	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6048269	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6075938	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6082789	0.80[EUR][1000 genomes]
rs6082790	0.95[AFR][1000 genomes]
rs6082792	0.81[AMR][1000 genomes]
rs6082797	0.82[AMR][1000 genomes]
rs6132540	0.81[EUR][1000 genomes]
rs6132541	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6132542	0.82[AMR][1000 genomes]
rs6137727	0.98[EUR][1000 genomes];1.00[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	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Amyotrophic lateral sclerosis (sporadic)	24529757	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6137726	RNF212	trans	lymphoblastoid	seeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22664800-22672600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:22667200-22672600	Weak transcription	Right Atrium	heart
3	chr20:22669800-22672600	Enhancers	Stomach Mucosa	stomach
4	chr20:22670800-22672600	Weak transcription	Left Ventricle	heart
5	chr20:22670800-22673000	Enhancers	Liver	Liver
6	chr20:22671400-22672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:22671600-22672800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr20:22671600-22673000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr20:22671800-22673000	Enhancers	Right Ventricle	heart
10	chr20:22672200-22672800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:22672200-22673000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:22672200-22673000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr20:22672200-22673000	Enhancers	Dnd41	blood
14	chr20:22672400-22672600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:22672400-22672600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:22672400-22672600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr20:22672400-22672600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:22672400-22672600	Active TSS	Brain Anterior Caudate	brain
19	chr20:22672400-22672600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr20:22672400-22672600	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr20:22672400-22672600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr20:22672400-22672600	Enhancers	Spleen	Spleen
23	chr20:22672400-22672600	Enhancers	A549	lung
24	chr20:22672400-22672600	Active TSS	Hela-S3	cervix
25	chr20:22672400-22672600	Bivalent/Poised TSS	HepG2	liver
26	chr20:22672400-22672600	Enhancers	HUVEC	blood vessel
27	chr20:22672400-22672600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr20:22672400-22672600	Active TSS	NHEK	skin
29	chr20:22672400-22672800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr20:22672400-22672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:22672400-22672800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr20:22672400-22672800	Enhancers	Primary B cells from peripheral blood	blood
33	chr20:22672400-22672800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr20:22672400-22672800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr20:22672400-22672800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr20:22672400-22672800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr20:22672400-22672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr20:22672400-22672800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:22672400-22672800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:22672400-22672800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr20:22672400-22672800	Active TSS	Rectal Smooth Muscle	rectum
42	chr20:22672400-22672800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr20:22672400-22672800	Enhancers	HMEC	breast
44	chr20:22672400-22672800	Enhancers	HSMMtube	muscle
45	chr20:22672400-22673000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr20:22672400-22673000	Enhancers	Colon Smooth Muscle	Colon
47	chr20:22672400-22673000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr20:22672400-22673000	Enhancers	Fetal Muscle Leg	muscle
49	chr20:22672400-22673000	Enhancers	Placenta	Placenta
50	chr20:22672400-22673000	Enhancers	Ovary	ovary

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