Variant report

Variant	rs2668750
Chromosome Location	chr15:45496129-45496130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45494998..45498237-chr15:45508390..45511192,3	K562	blood:
2	chr15:45453899..45457914-chr15:45495194..45498173,3	K562	blood:
3	chr15:45491434..45494359-chr15:45494448..45497644,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260035	Chromatin interaction
ENSG00000138606	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10450971	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12440127	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12898733	0.92[ASN][1000 genomes]
rs1611896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1617207	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1625404	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1625779	0.91[ASN][1000 genomes]
rs1628717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1632144	0.91[ASN][1000 genomes]
rs1648280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1648284	0.92[ASN][1000 genomes]
rs1648288	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648290	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1648291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1648296	0.92[ASN][1000 genomes]
rs1648297	0.83[ASN][1000 genomes]
rs1648298	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1648299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648300	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648301	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648314	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1648315	0.90[ASN][1000 genomes]
rs1706765	0.94[JPT][hapmap]
rs1706779	1.00[JPT][hapmap]
rs1706819	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1706823	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1706828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1706833	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1706836	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2292468	0.83[JPT][hapmap]
rs2413777	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2458238	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2458240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2467839	0.91[ASN][1000 genomes]
rs2668738	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2899376	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2899377	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4775824	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58701250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167481	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs732622	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs938129	1.00[JPT][hapmap]
rs938130	0.81[JPT][hapmap];0.91[ASN][1000 genomes]

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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45493400-45497000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:45493600-45497000	Weak transcription	HSMMtube	muscle
3	chr15:45493600-45497200	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:45493600-45508000	Weak transcription	Right Atrium	heart
5	chr15:45493800-45497000	Weak transcription	Stomach Mucosa	stomach
6	chr15:45494000-45496200	Enhancers	Liver	Liver
7	chr15:45494000-45497000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:45494000-45497000	Weak transcription	Fetal Intestine Small	intestine
9	chr15:45494000-45497200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:45494000-45497200	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:45494000-45497200	Weak transcription	Fetal Intestine Large	intestine
12	chr15:45494200-45496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:45495000-45496200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:45495200-45496400	Enhancers	Osteobl	bone
15	chr15:45495400-45496400	Enhancers	Ovary	ovary
16	chr15:45496000-45496200	Bivalent Enhancer	HepG2	liver
17	chr15:45496000-45497400	Weak transcription	Duodenum Mucosa	Duodenum

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