Variant report

Variant	rs66637228
Chromosome Location	chr3:136351210-136351211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr3:136351007-136351379	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136343802..136345688-chr3:136349798..136351830,2	MCF-7	breast:
2	chr3:136350170..136353597-chr3:136468835..136472616,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-198P	TF binding region
ENSG00000261758	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10513016	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844056	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365351	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466223	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763637	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56888009	0.97[EUR][1000 genomes]
rs57466072	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681357	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58636237	0.83[EUR][1000 genomes]
rs59361983	0.89[EUR][1000 genomes]
rs59616231	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59696368	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014495	0.82[EUR][1000 genomes]
rs66470158	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66471262	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66739346	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66902780	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67231188	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67236827	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67281610	0.85[EUR][1000 genomes]
rs67303976	0.85[EUR][1000 genomes]
rs67546863	0.89[EUR][1000 genomes]
rs67621498	0.82[EUR][1000 genomes]
rs67663578	0.82[EUR][1000 genomes]
rs6773495	0.85[EUR][1000 genomes]
rs67794070	0.82[EUR][1000 genomes]
rs67888773	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67902591	0.83[EUR][1000 genomes]
rs67923745	0.89[EUR][1000 genomes]
rs68018658	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975363	0.99[EUR][1000 genomes]
rs73228025	0.90[EUR][1000 genomes]
rs73228037	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73228040	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230052	0.90[EUR][1000 genomes]
rs73230077	0.83[EUR][1000 genomes]
rs73230078	0.83[EUR][1000 genomes]
rs73230095	0.82[EUR][1000 genomes]
rs7636806	0.85[EUR][1000 genomes]
rs7646563	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646723	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923001	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66637228	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136290000-136351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:136298600-136351600	Weak transcription	HSMM	muscle
3	chr3:136308000-136357400	Weak transcription	Lung	lung
4	chr3:136315400-136356400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:136315800-136355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:136315800-136361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:136316000-136364400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:136320800-136356800	Weak transcription	Ovary	ovary
9	chr3:136322200-136355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:136323400-136362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:136324200-136363600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:136327400-136357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:136335600-136357400	Weak transcription	Psoas Muscle	Psoas
14	chr3:136336200-136364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:136336400-136351400	Weak transcription	Right Ventricle	heart
16	chr3:136338800-136355600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:136342200-136355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:136343600-136351600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:136344600-136355600	Weak transcription	Fetal Kidney	kidney
20	chr3:136345200-136352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:136345800-136364000	Weak transcription	Small Intestine	intestine
22	chr3:136346000-136351400	Weak transcription	Stomach Mucosa	stomach
23	chr3:136346000-136351800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:136346200-136351400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:136347000-136361200	Weak transcription	Left Ventricle	heart
26	chr3:136347200-136368400	Weak transcription	Fetal Intestine Small	intestine
27	chr3:136347400-136351600	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:136347400-136351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:136347400-136358400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:136347400-136364000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:136347600-136353400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:136347600-136367200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:136348200-136352000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:136348200-136353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:136348200-136365000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:136348600-136364600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:136348800-136363800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:136348800-136373600	Weak transcription	Thymus	Thymus
39	chr3:136349000-136351800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:136349200-136351400	Enhancers	Brain Angular Gyrus	brain
41	chr3:136349200-136352400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:136349400-136351800	Enhancers	NHDF-Ad	bronchial
43	chr3:136349600-136351400	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:136349800-136352400	Enhancers	Osteobl	bone
45	chr3:136349800-136357400	Weak transcription	Fetal Thymus	thymus
46	chr3:136349800-136372400	Weak transcription	Dnd41	blood
47	chr3:136350000-136352000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:136350000-136352400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:136350200-136351800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:136350200-136352200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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