Variant report

Variant	rs184157
Chromosome Location	chr3:139242166-139242167
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	MAX	chr3:139242007-139242227	NB4	blood:	n/a	n/a
2	USF1	chr3:139241904-139242261	K562	blood:	n/a	n/a

Variant related genes	Relation type
RBP1	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10513063	0.82[JPT][hapmap]
rs1602626	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1602628	0.82[JPT][hapmap]
rs1610195	0.91[CHD][hapmap];0.86[MEX][hapmap]
rs17395611	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs17494356	0.82[JPT][hapmap]
rs184156	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs186105	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs2307031	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs295489	0.97[ASN][1000 genomes]
rs295490	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs295492	0.90[YRI][hapmap]
rs295493	0.90[YRI][hapmap]
rs3772871	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs3772876	0.82[JPT][hapmap]
rs397940	1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs41356949	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs41399544	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs9289573	0.81[ASW][hapmap];0.91[CHD][hapmap]
rs9821204	0.82[JPT][hapmap]
rs9848910	0.81[ASW][hapmap];0.91[CHD][hapmap]
rs9862672	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs184157	COPB2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139208200-139249600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:139223000-139247000	Weak transcription	Left Ventricle	heart
3	chr3:139228600-139245000	Weak transcription	Spleen	Spleen
4	chr3:139228800-139253200	Weak transcription	Gastric	stomach
5	chr3:139231000-139252800	Weak transcription	Right Ventricle	heart
6	chr3:139232400-139244400	Weak transcription	HSMMtube	muscle
7	chr3:139234400-139252600	Weak transcription	Lung	lung
8	chr3:139234800-139250600	Weak transcription	Brain Angular Gyrus	brain
9	chr3:139234800-139251000	Weak transcription	Fetal Kidney	kidney
10	chr3:139234800-139251200	Weak transcription	Fetal Heart	heart
11	chr3:139235000-139253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:139235200-139251400	Weak transcription	Liver	Liver
13	chr3:139236000-139245200	Weak transcription	Brain Anterior Caudate	brain
14	chr3:139236400-139250800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:139236600-139245000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:139236600-139252000	Weak transcription	Right Atrium	heart
17	chr3:139237200-139249600	Weak transcription	Brain Germinal Matrix	brain
18	chr3:139238800-139251600	Weak transcription	Small Intestine	intestine
19	chr3:139239000-139242400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:139239000-139242600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:139239000-139245000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:139239000-139247600	Weak transcription	NHEK	skin
23	chr3:139239000-139249600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:139239200-139244800	Weak transcription	Fetal Lung	lung
25	chr3:139239200-139247400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:139239200-139251400	Weak transcription	Placenta	Placenta
27	chr3:139239400-139246400	Weak transcription	Esophagus	oesophagus
28	chr3:139239600-139244000	Weak transcription	Fetal Intestine Large	intestine
29	chr3:139239600-139250000	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:139239600-139250000	Weak transcription	Brain Substantia Nigra	brain
31	chr3:139239600-139251400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:139240600-139248600	Strong transcription	NH-A	brain
33	chr3:139240600-139251000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:139240800-139251800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:139241200-139242400	Strong transcription	Ovary	ovary
36	chr3:139241200-139245400	Weak transcription	Fetal Brain Female	brain
37	chr3:139241400-139242400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:139241400-139242600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:139241400-139242600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:139241400-139251200	Strong transcription	Fetal Intestine Small	intestine
41	chr3:139241400-139251200	Strong transcription	Fetal Stomach	stomach
42	chr3:139241400-139253200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:139241600-139247600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:139241800-139245000	Weak transcription	Pancreas	Pancrea
45	chr3:139242000-139243000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:139242000-139243800	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:139242000-139244200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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