Variant report

Variant	rs1861050
Chromosome Location	chr4:15482360-15482361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15479740..15482605-chr4:15655501..15658427,3	MCF-7	breast:
2	chr4:15481667..15484454-chr4:15772642..15775403,2	MCF-7	breast:
3	chr4:15480883..15483744-chr4:15651050..15653259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10004540	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10026118	0.85[MKK][hapmap]
rs10032808	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10516286	1.00[CEU][hapmap]
rs11942186	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11942959	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11946436	0.82[EUR][1000 genomes]
rs13353624	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468737	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1861049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080176	0.83[JPT][hapmap]
rs2080177	0.83[JPT][hapmap]
rs2192359	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2192360	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2192361	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2192362	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28405315	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28448602	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28465445	0.95[ASN][1000 genomes]
rs28517424	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28697056	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3822297	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4140933	0.83[JPT][hapmap]
rs4698107	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4698108	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4698112	0.83[JPT][hapmap]
rs4698381	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4698383	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4698384	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60487386	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61170754	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6810461	0.83[JPT][hapmap]
rs6814988	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6836616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837765	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73235019	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7656974	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7661435	0.81[ASN][1000 genomes]
rs971490	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9998686	0.83[JPT][hapmap]
rs9998722	0.86[AMR][1000 genomes];0.87[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Conduct disorder	20585324	GWAS catalog

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481200-15485200	Weak transcription	Right Ventricle	heart
2	chr4:15481400-15482400	Weak transcription	Left Ventricle	heart
3	chr4:15481400-15486200	Weak transcription	Spleen	Spleen
4	chr4:15481600-15482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:15481600-15482400	Weak transcription	Fetal Intestine Large	intestine
6	chr4:15481600-15482400	Weak transcription	Lung	lung
7	chr4:15481600-15482400	Enhancers	Rectal Smooth Muscle	rectum
8	chr4:15481600-15482400	Enhancers	NHDF-Ad	bronchial
9	chr4:15481600-15482600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:15481600-15482600	Enhancers	Adipose Nuclei	Adipose
11	chr4:15481600-15482600	Enhancers	Fetal Heart	heart
12	chr4:15481600-15484000	Weak transcription	Aorta	Aorta
13	chr4:15481600-15484200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:15481600-15484400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:15481600-15484400	Weak transcription	Placenta	Placenta
16	chr4:15481600-15484400	Weak transcription	K562	blood
17	chr4:15481600-15484600	Weak transcription	Right Atrium	heart
18	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle
19	chr4:15481600-15490200	Weak transcription	Esophagus	oesophagus
20	chr4:15481600-15498600	Weak transcription	Liver	Liver
21	chr4:15481600-15519000	Weak transcription	Gastric	stomach
22	chr4:15481800-15482400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:15481800-15482400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:15481800-15482400	Enhancers	Brain Hippocampus Middle	brain
25	chr4:15481800-15482400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:15481800-15482400	Enhancers	HepG2	liver
27	chr4:15481800-15482600	Enhancers	Brain Angular Gyrus	brain
28	chr4:15481800-15482600	Enhancers	Colon Smooth Muscle	Colon
29	chr4:15481800-15483200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:15481800-15483200	Weak transcription	Fetal Kidney	kidney
31	chr4:15481800-15484000	Weak transcription	Ovary	ovary
32	chr4:15481800-15488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:15482000-15482400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:15482000-15482400	Enhancers	Brain Anterior Caudate	brain
35	chr4:15482000-15482400	Enhancers	Fetal Brain Male	brain
36	chr4:15482000-15482400	Enhancers	Fetal Lung	lung
37	chr4:15482000-15482400	Enhancers	Fetal Muscle Leg	muscle
38	chr4:15482000-15482400	Flanking Active TSS	NHLF	lung
39	chr4:15482000-15482600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:15482000-15482600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:15482000-15482600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:15482000-15482600	Enhancers	Brain Germinal Matrix	brain
43	chr4:15482000-15482600	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr4:15482000-15482600	Enhancers	HMEC	breast
45	chr4:15482000-15482600	Genic enhancers	Osteobl	bone
46	chr4:15482000-15482800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:15482000-15482800	Enhancers	NH-A	brain
48	chr4:15482000-15483200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:15482000-15484000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:15482000-15484200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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