Variant report

Variant	rs2293370
Chromosome Location	chr3:119219934-119219935
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	POLR2A	chr3:119218321-119220778	K562	blood:	n/a	n/a
2	MXI1	chr3:119216044-119220289	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119219516..119223386-chr3:119224346..119229091,6	K562	blood:
2	chr3:119218133..119220642-chr3:119277892..119280066,2	K562	blood:
3	chr3:119219701..119222345-chr3:119233370..119236233,2	K562	blood:
4	chr3:119185037..119191105-chr3:119214944..119221331,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272662	TF binding region
ENSG00000163389	Chromatin interaction
ENSG00000121594	Chromatin interaction
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1131265	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1132200	0.88[TSI][hapmap]
rs11712863	0.84[AFR][1000 genomes]
rs12494314	0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12636784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12695388	0.90[LWK][hapmap];0.95[YRI][hapmap]
rs13075568	0.94[YRI][hapmap]
rs13092998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305249	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34844599	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3732421	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57271503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62264485	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7615155	0.90[LWK][hapmap];0.95[YRI][hapmap]
rs7650774	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9833154	0.82[AFR][1000 genomes]
rs9843355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855065	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9884090	0.94[CHB][hapmap];0.90[CHD][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

Variant related diseases (count:3)

Disease	PMID	Source
Primary biliary cirrhosis	23000144	GWAS catalog
Primary biliary cirrhosis	21399635	GWAS catalog
Multiple sclerosis	21833088	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2293370	WDR5B	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119216200-119220000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:119216400-119220200	Active TSS	K562	blood
3	chr3:119218000-119220400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr3:119218000-119224400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:119218000-119225000	Weak transcription	Gastric	stomach
6	chr3:119218000-119231800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:119218000-119236600	Weak transcription	Aorta	Aorta
8	chr3:119218200-119220000	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:119218200-119220000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:119218200-119220000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr3:119218200-119220000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr3:119218200-119220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:119218400-119220000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:119218400-119220000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:119218400-119220000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:119218400-119220000	Enhancers	Pancreas	Pancrea
17	chr3:119218400-119220000	Enhancers	Rectal Smooth Muscle	rectum
18	chr3:119218400-119220000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr3:119218400-119220000	Enhancers	HSMMtube	muscle
20	chr3:119218400-119220200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr3:119218400-119220200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:119218400-119220400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:119218400-119220800	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:119218600-119220000	Enhancers	Colon Smooth Muscle	Colon
25	chr3:119218600-119220000	Enhancers	Fetal Lung	lung
26	chr3:119218600-119220000	Active TSS	Right Atrium	heart
27	chr3:119218600-119220000	Active TSS	Right Ventricle	heart
28	chr3:119218600-119220200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:119218600-119220200	Enhancers	Brain Hippocampus Middle	brain
30	chr3:119218600-119220200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:119218600-119220200	Enhancers	Fetal Brain Female	brain
32	chr3:119218600-119220800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:119218600-119220800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr3:119218600-119221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:119218600-119221600	Weak transcription	Fetal Intestine Large	intestine
36	chr3:119218600-119222800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:119218600-119223000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:119218600-119224600	Weak transcription	Brain Germinal Matrix	brain
39	chr3:119218600-119225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:119218600-119225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:119218600-119225000	Weak transcription	Lung	lung
42	chr3:119218600-119231800	Weak transcription	Spleen	Spleen
43	chr3:119218600-119234400	Weak transcription	Colonic Mucosa	Colon
44	chr3:119218600-119236600	Weak transcription	Esophagus	oesophagus
45	chr3:119218800-119220000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr3:119218800-119220000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:119218800-119220000	Enhancers	Duodenum Mucosa	Duodenum
48	chr3:119218800-119220200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:119218800-119220200	Enhancers	Liver	Liver
50	chr3:119218800-119220400	Enhancers	Brain Anterior Caudate	brain

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