Variant report

Variant	rs56094936
Chromosome Location	chr20:23401586-23401587
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23336395..23338655-chr20:23399846..23402203,2	K562	blood:
2	chr20:23342672..23344892-chr20:23400555..23402881,3	MCF-7	breast:
3	chr20:23331362..23333588-chr20:23399396..23402095,2	K562	blood:
4	chr20:23337918..23344174-chr20:23400107..23404916,9	MCF-7	breast:
5	chr20:23330877..23333588-chr20:23399396..23402604,5	K562	blood:
6	chr20:23400976..23401856-chr20:23422235..23423058,2	MCF-7	breast:
7	chr20:23328647..23330996-chr20:23399236..23401652,2	K562	blood:
8	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
9	chr20:23388261..23390849-chr20:23399031..23401935,2	K562	blood:
10	chr20:23340976..23344072-chr20:23400128..23403114,5	K562	blood:
11	chr20:23400310..23402508-chr20:23615661..23618868,3	MCF-7	breast:
12	chr20:23345633..23349899-chr20:23400854..23404181,4	K562	blood:
13	chr20:23400787..23402892-chr20:23617355..23620191,2	MCF-7	breast:
14	chr20:23345633..23349899-chr20:23400647..23404181,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125812	Chromatin interaction
ENSG00000232645	Chromatin interaction
ENSG00000132661	Chromatin interaction
ENSG00000101439	Chromatin interaction
ENSG00000234832	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1076776	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12625164	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs17757228	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17757442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17830281	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1936011	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2277765	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2281428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295238	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34648279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736755	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3746733	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3746737	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3761274	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3761275	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3827085	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3827086	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55851398	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56334525	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132599	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6132600	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6132605	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6132606	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132609	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6132610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6132617	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137901	0.96[AMR][1000 genomes]
rs6137907	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137910	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137913	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6137914	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6137915	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6137917	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137919	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137920	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137927	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137930	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137931	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137936	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137937	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137938	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137939	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137941	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137951	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs761722	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs8183135	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[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	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23399800-23402600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:23400000-23402600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:23400200-23402400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr20:23400200-23402400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr20:23400200-23402400	Active TSS	HSMMtube	muscle
6	chr20:23400200-23402600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:23400200-23402600	Active TSS	K562	blood
8	chr20:23400400-23401800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr20:23400400-23402200	Active TSS	Placenta	Placenta
10	chr20:23400400-23402200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr20:23400400-23402200	Active TSS	GM12878-XiMat	blood
12	chr20:23400400-23402400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr20:23400400-23402400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr20:23400400-23402400	Active TSS	Aorta	Aorta
15	chr20:23400400-23402400	Active TSS	Colon Smooth Muscle	Colon
16	chr20:23400400-23402400	Active TSS	Fetal Muscle Leg	muscle
17	chr20:23400400-23402400	Active TSS	Lung	lung
18	chr20:23400400-23402400	Active TSS	Ovary	ovary
19	chr20:23400400-23402600	Active TSS	Colonic Mucosa	Colon
20	chr20:23400400-23402600	Active TSS	Fetal Muscle Trunk	muscle
21	chr20:23400400-23402600	Active TSS	Left Ventricle	heart
22	chr20:23400400-23402600	Active TSS	Right Atrium	heart
23	chr20:23400400-23402800	Active TSS	Stomach Smooth Muscle	stomach
24	chr20:23400600-23401600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:23400600-23401800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr20:23400600-23402200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:23400600-23402200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:23400600-23402200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr20:23400600-23402200	Active TSS	Duodenum Mucosa	Duodenum
30	chr20:23400600-23402200	Active TSS	Fetal Intestine Small	intestine
31	chr20:23400600-23402200	Active TSS	Fetal Thymus	thymus
32	chr20:23400600-23402200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr20:23400600-23402200	Active TSS	HMEC	breast
34	chr20:23400600-23402200	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr20:23400600-23402200	Active TSS	NH-A	brain
36	chr20:23400600-23402200	Active TSS	NHDF-Ad	bronchial
37	chr20:23400600-23402400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:23400600-23402400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:23400600-23402400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr20:23400600-23402400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:23400600-23402400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr20:23400600-23402400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr20:23400600-23402400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr20:23400600-23402400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr20:23400600-23402400	Active TSS	Esophagus	oesophagus
46	chr20:23400600-23402400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr20:23400600-23402400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr20:23400600-23402400	Active TSS	Right Ventricle	heart
49	chr20:23400600-23402400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr20:23400600-23402400	Active TSS	NHLF	lung

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