Variant report

Variant	rs67236827
Chromosome Location	chr3:136351892-136351893
allele	C/T
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	GATA3	chr3:136351502-136352003	MCF-7	breast:	n/a	n/a
2	HDAC2	chr3:136351545-136351931	HepG2	liver:	n/a	n/a
3	FOXA1	chr3:136351617-136352057	T-47D	breast:	n/a	chr3:136351808-136351823
4	JUN	chr3:136351663-136351953	HepG2	liver:	n/a	n/a
5	FOXA1	chr3:136351653-136351990	T-47D	breast:	n/a	chr3:136351808-136351823
6	GATA3	chr3:136351470-136351999	T-47D	breast:	n/a	n/a
7	FOXA1	chr3:136351471-136352102	HepG2	liver:	n/a	chr3:136351808-136351823
8	EP300	chr3:136351520-136351932	HepG2	liver:	n/a	n/a
9	GATA3	chr3:136351625-136352022	T-47D	breast:	n/a	n/a
10	SP1	chr3:136351556-136351971	A549	lung:	n/a	n/a
11	FOS	chr3:136351762-136352025	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA2	chr3:136351482-136351951	HepG2	liver:	n/a	n/a
13	STAT3	chr3:136351805-136352005	MCF10A-Er-Src	breast:	n/a	n/a
14	ARID3A	chr3:136351531-136352050	HepG2	liver:	n/a	n/a
15	FOXA1	chr3:136351461-136352065	HepG2	liver:	n/a	chr3:136351808-136351823
16	SP1	chr3:136351564-136351952	A549	lung:	n/a	n/a
17	FOXA1	chr3:136351583-136352050	HepG2	liver:	n/a	chr3:136351808-136351823
18	FOXA1	chr3:136351605-136351986	HepG2	liver:	n/a	chr3:136351808-136351823
19	STAT3	chr3:136351744-136351926	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr3:136351716-136352030	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr3:136351667-136352048	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXA2	chr3:136351560-136351998	A549	lung:	n/a	n/a
23	FOS	chr3:136351692-136352030	MCF10A-Er-Src	breast:	n/a	n/a
24	ZNF217	chr3:136351671-136351919	MCF-7	breast:	n/a	n/a
25	NFIC	chr3:136351668-136352066	HepG2	liver:	n/a	n/a
26	TCF12	chr3:136351586-136352086	A549	lung:	n/a	n/a

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

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

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10513016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844056	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466223	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3931416	0.81[EUR][1000 genomes]
rs55763637	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218376	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56308712	0.81[EUR][1000 genomes]
rs56888009	0.96[EUR][1000 genomes]
rs57466072	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681357	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58636237	0.85[EUR][1000 genomes]
rs59361983	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59616231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59696368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014495	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60270684	0.82[AFR][1000 genomes]
rs66470158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66471262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66637228	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66739346	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66902780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66973954	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs67231188	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67281610	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67303976	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67305360	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs67546863	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67621498	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67663578	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6773495	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67794070	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67888773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67902591	0.85[EUR][1000 genomes]
rs67923745	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs68018658	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975363	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73226130	0.81[EUR][1000 genomes]
rs73228025	0.91[EUR][1000 genomes]
rs73228037	0.94[EUR][1000 genomes]
rs73228040	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230052	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73230077	0.85[EUR][1000 genomes]
rs73230078	0.85[EUR][1000 genomes]
rs73230095	0.83[EUR][1000 genomes]
rs73231917	0.81[EUR][1000 genomes]
rs7636806	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7646563	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646723	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs67236827	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136308000-136357400	Weak transcription	Lung	lung
2	chr3:136315400-136356400	Weak transcription	Brain Anterior Caudate	brain
3	chr3:136315800-136355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:136315800-136361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:136316000-136364400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:136320800-136356800	Weak transcription	Ovary	ovary
7	chr3:136322200-136355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:136323400-136362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:136324200-136363600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:136327400-136357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:136335600-136357400	Weak transcription	Psoas Muscle	Psoas
12	chr3:136336200-136364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:136338800-136355600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:136342200-136355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:136344600-136355600	Weak transcription	Fetal Kidney	kidney
16	chr3:136345200-136352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:136345800-136364000	Weak transcription	Small Intestine	intestine
18	chr3:136347000-136361200	Weak transcription	Left Ventricle	heart
19	chr3:136347200-136368400	Weak transcription	Fetal Intestine Small	intestine
20	chr3:136347400-136358400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:136347400-136364000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:136347600-136353400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:136347600-136367200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:136348200-136352000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:136348200-136353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:136348200-136365000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:136348600-136364600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:136348800-136363800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:136348800-136373600	Weak transcription	Thymus	Thymus
30	chr3:136349200-136352400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:136349800-136352400	Enhancers	Osteobl	bone
32	chr3:136349800-136357400	Weak transcription	Fetal Thymus	thymus
33	chr3:136349800-136372400	Weak transcription	Dnd41	blood
34	chr3:136350000-136352000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:136350000-136352400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:136350200-136352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:136350200-136352200	Enhancers	Fetal Stomach	stomach
38	chr3:136350200-136352400	Enhancers	Liver	Liver
39	chr3:136350200-136352400	Enhancers	HepG2	liver
40	chr3:136350400-136353200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:136350600-136352000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:136350600-136352200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:136350600-136372200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:136350800-136352200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:136351200-136352000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr3:136351200-136352000	Flanking Active TSS	A549	lung
47	chr3:136351200-136352400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:136351200-136352400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:136351200-136352400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:136351400-136352200	Enhancers	Colon Smooth Muscle	Colon

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