Variant report

Variant	rs67230667
Chromosome Location	chr3:136174771-136174772
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136174603..136175192-chr3:136470736..136471549,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261758	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10513002	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13067714	0.93[AMR][1000 genomes]
rs16843978	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199880	0.93[AMR][1000 genomes]
rs17199978	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17265675	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17266364	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3913715	1.00[ASN][1000 genomes]
rs3931416	0.86[EUR][1000 genomes]
rs4125861	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55763637	0.82[EUR][1000 genomes]
rs55848312	0.92[EUR][1000 genomes]
rs56057807	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56083120	0.91[EUR][1000 genomes]
rs56095774	0.81[EUR][1000 genomes]
rs56218376	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56264828	1.00[ASN][1000 genomes]
rs57681357	0.82[EUR][1000 genomes]
rs58636237	0.90[EUR][1000 genomes]
rs58641485	0.99[EUR][1000 genomes]
rs60014495	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60270684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66470158	0.83[EUR][1000 genomes]
rs66494666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66637842	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66902780	0.83[EUR][1000 genomes]
rs66973954	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67082054	0.96[EUR][1000 genomes]
rs67281610	0.91[EUR][1000 genomes]
rs67303976	0.91[EUR][1000 genomes]
rs67305360	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67389407	1.00[ASN][1000 genomes]
rs67452583	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67525027	1.00[ASN][1000 genomes]
rs67621498	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67663578	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67677899	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67692166	0.87[AMR][1000 genomes]
rs6769582	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773495	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6773604	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67794070	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67888773	0.83[EUR][1000 genomes]
rs67902591	0.90[EUR][1000 genomes]
rs67963055	1.00[ASN][1000 genomes]
rs67971203	0.85[EUR][1000 genomes]
rs73224201	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226130	0.97[EUR][1000 genomes]
rs73228025	0.86[EUR][1000 genomes]
rs73228037	0.80[EUR][1000 genomes]
rs73228040	0.83[EUR][1000 genomes]
rs7625592	0.85[EUR][1000 genomes]
rs7636806	0.91[EUR][1000 genomes]
rs7650075	1.00[ASN][1000 genomes]
rs7652176	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877522	chr3:136088038-136241028	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv877523	chr3:136088038-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv520012	chr3:136088038-136314119	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv877524	chr3:136112109-136295283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv877525	chr3:136112109-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv877526	chr3:136149139-136310985	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67230667	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136085800-136174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:136086200-136174800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:136131400-136175400	Weak transcription	HMEC	breast
4	chr3:136139800-136175400	Weak transcription	Small Intestine	intestine
5	chr3:136139800-136175800	Weak transcription	Right Ventricle	heart
6	chr3:136140000-136175800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:136161000-136176000	Weak transcription	NHLF	lung
8	chr3:136161200-136175000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:136161800-136176000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:136169400-136175000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:136170600-136175800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:136172400-136178600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:136172600-136177400	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr3:136172800-136174800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr3:136172800-136177200	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr3:136173000-136177000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:136173000-136177200	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr3:136173000-136178200	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr3:136173000-136181400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:136173200-136175400	Weak transcription	NH-A	brain
21	chr3:136173200-136176800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:136173200-136176800	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr3:136173200-136177600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:136173200-136177600	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr3:136173200-136178400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr3:136173400-136175800	Strong transcription	Fetal Thymus	thymus
27	chr3:136173400-136176600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
28	chr3:136173400-136177200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:136173400-136177800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
30	chr3:136173400-136178000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr3:136173600-136176400	ZNF genes & repeats	Fetal Kidney	kidney
32	chr3:136173600-136177400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr3:136173600-136177600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:136173600-136178000	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr3:136173800-136175000	ZNF genes & repeats	Fetal Heart	heart
36	chr3:136173800-136176800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
37	chr3:136173800-136176800	ZNF genes & repeats	Fetal Brain Female	brain
38	chr3:136173800-136177000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr3:136173800-136177800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:136174000-136174800	Strong transcription	Liver	Liver
41	chr3:136174000-136175000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr3:136174000-136176400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr3:136174000-136176600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr3:136174000-136176800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr3:136174000-136177000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr3:136174000-136177200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:136174000-136177600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:136174000-136177800	ZNF genes & repeats	Fetal Lung	lung
49	chr3:136174000-136178000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:136174000-136178000	ZNF genes & repeats	GM12878-XiMat	blood

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