Variant report

Variant	rs6132609
Chromosome Location	chr20:23400412-23400413
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23336395..23338655-chr20:23399846..23402203,2	K562	blood:
2	chr20:23398847..23400771-chr20:23575954..23577563,2	K562	blood:
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	chr20:23328647..23330996-chr20:23399236..23401652,2	K562	blood:
7	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
8	chr20:23388261..23390849-chr20:23399031..23401935,2	K562	blood:
9	chr20:23340976..23344072-chr20:23400128..23403114,5	K562	blood:
10	chr20:23400310..23402508-chr20:23615661..23618868,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125812	Chromatin interaction
ENSG00000234832	Chromatin interaction
ENSG00000132661	Chromatin interaction
ENSG00000232645	Chromatin interaction
ENSG00000101439	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	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12625164	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17757228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17757442	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17830281	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1936011	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2277765	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2281428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2295238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34648279	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3746733	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3746737	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3761274	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3761275	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3827085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3827086	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55851398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56094936	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56334525	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6132599	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6132600	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6132605	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6132606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6132610	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6132617	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137901	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6137907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137910	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137914	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137915	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137917	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137919	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137920	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6137937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6137938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137941	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6137945	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137947	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137948	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137950	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137951	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs761722	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8183135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23391200-23400800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:23395000-23401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:23396400-23400600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr20:23396600-23400600	Weak transcription	Esophagus	oesophagus
6	chr20:23397000-23400800	Weak transcription	Pancreas	Pancrea
7	chr20:23397000-23401000	Weak transcription	Gastric	stomach
8	chr20:23398200-23400600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:23398800-23400600	Weak transcription	Fetal Stomach	stomach
10	chr20:23399600-23400600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:23399600-23400600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:23399600-23400800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:23399800-23400600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:23399800-23400600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr20:23399800-23400600	Enhancers	Fetal Intestine Large	intestine
16	chr20:23399800-23400800	Enhancers	Small Intestine	intestine
17	chr20:23399800-23400800	Flanking Active TSS	NHEK	skin
18	chr20:23399800-23402600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr20:23400000-23400600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr20:23400000-23400600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr20:23400000-23400600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:23400000-23400600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:23400000-23400600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr20:23400000-23400600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr20:23400000-23400600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr20:23400000-23400600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr20:23400000-23400600	Flanking Active TSS	HMEC	breast
28	chr20:23400000-23400600	Flanking Active TSS	HSMM	muscle
29	chr20:23400000-23400600	Flanking Active TSS	Osteobl	bone
30	chr20:23400000-23400800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr20:23400000-23400800	Flanking Active TSS	HUVEC	blood vessel
32	chr20:23400000-23401000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr20:23400000-23401000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr20:23400000-23401000	Flanking Active TSS	Dnd41	blood
35	chr20:23400000-23401200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:23400000-23401200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr20:23400000-23401200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr20:23400000-23402600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr20:23400200-23400600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr20:23400200-23400600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:23400200-23400600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr20:23400200-23400600	Enhancers	Primary B cells from peripheral blood	blood
43	chr20:23400200-23400600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr20:23400200-23400600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr20:23400200-23400600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:23400200-23400600	Weak transcription	Fetal Intestine Small	intestine
47	chr20:23400200-23400600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr20:23400200-23400600	Flanking Active TSS	NH-A	brain
49	chr20:23400200-23400800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr20:23400200-23400800	Flanking Active TSS	Brain Angular Gyrus	brain

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