Variant report

Variant	rs2280418
Chromosome Location	chr15:33993358-33993359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:33584630..33585563-chr15:33992613..33993545,3	K562	blood:
2	chr1:121484531..121485045-chr15:33993204..33993823,2	MCF-7	breast:
3	chr15:33601386..33602463-chr15:33992935..33994146,8	MCF-7	breast:
4	chr15:33378525..33379153-chr15:33992666..33993558,2	K562	blood:
5	chr15:33583780..33585600-chr15:33992062..33993955,12	MCF-7	breast:
6	chr15:33966586..33967428-chr15:33992470..33993382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259446	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10162776	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs17817536	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2088141	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2088143	0.85[JPT][hapmap]
rs2280417	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[ASN][1000 genomes]
rs34148440	0.80[AFR][1000 genomes]
rs35962737	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3736531	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4779632	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7174044	0.83[JPT][hapmap]
rs8037400	0.84[ASN][1000 genomes]
rs8037943	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv34037	chr15:33732616-34049083	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33988800-34002600	Weak transcription	Aorta	Aorta
2	chr15:33989000-34001600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:33991600-33996800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:33992200-33993400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr15:33992200-33993600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:33992800-33993400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr15:33992800-33993400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:33992800-33993400	Enhancers	Brain Angular Gyrus	brain
9	chr15:33992800-33993400	Genic enhancers	Brain Anterior Caudate	brain
10	chr15:33992800-33993400	Enhancers	Brain Hippocampus Middle	brain
11	chr15:33992800-33993400	Enhancers	Fetal Lung	lung
12	chr15:33992800-33993400	Genic enhancers	Fetal Muscle Leg	muscle
13	chr15:33992800-33993600	Enhancers	NH-A	brain
14	chr15:33992800-33994000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:33993000-33993400	Enhancers	Brain Cingulate Gyrus	brain
16	chr15:33993000-33993400	Enhancers	HUVEC	blood vessel
17	chr15:33993000-33993400	Enhancers	NHEK	skin
18	chr15:33993000-33994800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr15:33993000-34001600	Weak transcription	Fetal Brain Female	brain
20	chr15:33993000-34034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:33993000-34034600	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:33993200-33993400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:33993200-33993400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:33993200-33993400	Enhancers	Liver	Liver
25	chr15:33993200-33993400	Enhancers	Left Ventricle	heart
26	chr15:33993200-33993400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr15:33993200-33993400	Enhancers	HMEC	breast
28	chr15:33993200-33993600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr15:33993200-33993800	Enhancers	HepG2	liver
30	chr15:33993200-33994600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr15:33993200-33994800	Weak transcription	Fetal Brain Male	brain

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