Variant report

Variant	rs73231966
Chromosome Location	chr3:136652134-136652135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136649399..136652137-chr3:136652248..136655510,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1048145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17301365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366890	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56308712	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59361983	0.82[EUR][1000 genomes]
rs67546863	0.82[EUR][1000 genomes]
rs67923745	0.82[EUR][1000 genomes]
rs73230077	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73230078	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73230095	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73231917	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73231937	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73231943	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231944	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231958	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231974	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73231975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877531	chr3:136517016-136662954	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv877532	chr3:136526939-136662603	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv877533	chr3:136539689-136662954	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73231966	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136619200-136656800	Weak transcription	NHLF	lung
2	chr3:136624200-136664400	Weak transcription	Aorta	Aorta
3	chr3:136626000-136661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:136626600-136661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:136632600-136657000	Weak transcription	HepG2	liver
6	chr3:136633800-136660200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:136634800-136656800	Weak transcription	NH-A	brain
8	chr3:136635000-136656600	Weak transcription	K562	blood
9	chr3:136637600-136661400	Weak transcription	Left Ventricle	heart
10	chr3:136638800-136664400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:136639000-136664400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:136640400-136655000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:136641000-136652600	Weak transcription	Fetal Stomach	stomach
14	chr3:136641000-136670000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:136641800-136656200	Weak transcription	HUVEC	blood vessel
16	chr3:136643800-136655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:136643800-136661400	Weak transcription	Small Intestine	intestine
18	chr3:136644600-136656800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:136645000-136655400	Weak transcription	Fetal Brain Female	brain
20	chr3:136645400-136664200	Weak transcription	Placenta	Placenta
21	chr3:136645800-136664600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:136646200-136660000	Weak transcription	Lung	lung
23	chr3:136646200-136664400	Weak transcription	Ovary	ovary
24	chr3:136646600-136673800	Weak transcription	Pancreas	Pancrea
25	chr3:136647400-136655400	Weak transcription	Fetal Kidney	kidney
26	chr3:136647600-136655200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:136647600-136655800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:136647600-136657600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:136647600-136660800	Weak transcription	Thymus	Thymus
30	chr3:136647600-136661000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:136647600-136664400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:136647800-136655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:136648000-136652200	Enhancers	Hela-S3	cervix
34	chr3:136648000-136655400	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:136648200-136657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:136648400-136652800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:136648400-136653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:136648600-136654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:136648600-136655400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:136648600-136673800	Weak transcription	Fetal Intestine Small	intestine
41	chr3:136648800-136652400	Enhancers	NHEK	skin
42	chr3:136648800-136653600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:136649000-136652400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:136649000-136661200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:136649200-136652200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr3:136649200-136652600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:136649400-136652800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:136650000-136652400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr3:136650200-136652400	Enhancers	Stomach Mucosa	stomach
50	chr3:136650200-136652600	Enhancers	Primary B cells from cord blood	blood

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