Variant report

Variant	rs9290245
Chromosome Location	chr3:100612453-100612454
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100611635..100615364-chr3:100616570..100618813,3	K562	blood:
2	chr3:100603772..100606163-chr3:100611320..100613535,2	K562	blood:
3	chr3:100612213..100613093-chr3:100788871..100789436,4	MCF-7	breast:
4	chr3:100611735..100613142-chr3:100914536..100915622,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154175	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1017439	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs11720318	0.91[CHB][hapmap]
rs1370160	0.89[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs1370161	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1436941	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1816567	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1821794	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1836986	0.89[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs1836987	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1836988	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2118170	0.91[CHB][hapmap]
rs2118171	0.91[CHB][hapmap]
rs2118172	0.84[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2317331	0.89[CEU][hapmap]
rs3821725	0.89[CEU][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs4328836	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs4928093	0.89[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs4928095	0.89[EUR][1000 genomes]
rs6441555	0.82[EUR][1000 genomes]
rs6778625	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6786325	0.89[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs6786332	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs6793103	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975536	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs9878937	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	nsv514163	chr3:100547342-100670846	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100594400-100618200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:100594600-100616800	Weak transcription	Ovary	ovary
3	chr3:100599600-100645400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:100599800-100618200	Weak transcription	Fetal Lung	lung
5	chr3:100602200-100616800	Weak transcription	NHDF-Ad	bronchial
6	chr3:100604200-100617000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:100610400-100613400	Strong transcription	Fetal Muscle Leg	muscle
8	chr3:100610400-100617600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:100610600-100617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:100610600-100619200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:100610800-100617000	Weak transcription	HSMM	muscle
12	chr3:100611000-100613000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:100611000-100613000	Genic enhancers	Osteobl	bone
14	chr3:100611200-100613200	Strong transcription	HSMMtube	muscle
15	chr3:100611400-100613000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:100611600-100612600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:100611600-100612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:100611600-100612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:100612000-100617000	Weak transcription	Hela-S3	cervix
20	chr3:100612000-100622800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:100612200-100612800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:100612200-100632200	Weak transcription	Fetal Stomach	stomach
23	chr3:100612400-100612800	Enhancers	Colon Smooth Muscle	Colon
24	chr3:100612400-100612800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr3:100612400-100613000	Genic enhancers	Muscle Satellite Cultured Cells	--

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