Variant report

Variant	rs9292068
Chromosome Location	chr5:54039425-54039426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54037843..54041857-chr5:54043536..54048349,6	K562	blood:
2	chr5:54014462..54016849-chr5:54037550..54040142,2	K562	blood:
3	chr5:54037843..54039936-chr5:54044579..54046953,2	K562	blood:
4	chr5:54037020..54040567-chr5:54043537..54047094,3	MCF-7	breast:
5	chr5:54037732..54040168-chr5:54049770..54052180,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10077227	0.95[ASN][1000 genomes]
rs10077228	0.95[ASN][1000 genomes]
rs10940420	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10940421	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11741898	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12516090	0.82[EUR][1000 genomes]
rs12516335	0.82[EUR][1000 genomes]
rs12516850	0.82[EUR][1000 genomes]
rs12520102	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13180905	0.96[ASN][1000 genomes]
rs1373990	0.81[EUR][1000 genomes]
rs1445837	0.96[ASN][1000 genomes]
rs1445838	0.96[ASN][1000 genomes]
rs1445839	0.96[ASN][1000 genomes]
rs1562232	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1867687	0.96[ASN][1000 genomes]
rs2121132	0.82[EUR][1000 genomes]
rs35207106	0.91[ASN][1000 genomes]
rs3923240	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4242043	0.91[ASN][1000 genomes]
rs4282276	0.82[EUR][1000 genomes]
rs4286627	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4348178	0.82[EUR][1000 genomes]
rs4353983	0.82[EUR][1000 genomes]
rs4353984	0.82[EUR][1000 genomes]
rs4359998	0.82[EUR][1000 genomes]
rs4367251	0.90[ASN][1000 genomes]
rs4367252	0.91[ASN][1000 genomes]
rs4367253	0.91[ASN][1000 genomes]
rs4410612	0.92[ASN][1000 genomes]
rs4419552	0.94[ASN][1000 genomes]
rs4487449	0.94[ASN][1000 genomes]
rs4541609	0.90[ASN][1000 genomes]
rs4596333	0.91[ASN][1000 genomes]
rs4604146	0.82[EUR][1000 genomes]
rs4639171	0.91[ASN][1000 genomes]
rs4639172	0.94[ASN][1000 genomes]
rs4865868	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6450240	0.82[EUR][1000 genomes]
rs6450242	0.82[EUR][1000 genomes]
rs6872707	0.96[ASN][1000 genomes]
rs6881842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6893796	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6899028	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7701622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7710924	0.86[CHB][hapmap]
rs7719575	0.82[EUR][1000 genomes]
rs7727742	0.82[EUR][1000 genomes]
rs7735360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7735378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7736184	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs895329	0.91[ASN][1000 genomes]
rs977207	0.82[EUR][1000 genomes]
rs977208	0.82[EUR][1000 genomes]
rs977209	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54034200-54039600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:54034200-54040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:54034400-54039800	Weak transcription	Esophagus	oesophagus
4	chr5:54034400-54039800	Weak transcription	Fetal Stomach	stomach
5	chr5:54034400-54039800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:54034600-54039600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:54034600-54039800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:54034600-54041400	Weak transcription	Lung	lung
9	chr5:54036200-54039600	Weak transcription	Primary B cells from cord blood	blood
10	chr5:54036400-54039600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:54036400-54039600	Weak transcription	Spleen	Spleen
12	chr5:54036400-54041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:54036400-54042000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:54036800-54041800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:54036800-54044800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:54037200-54042800	Weak transcription	Gastric	stomach
17	chr5:54037400-54041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:54037400-54041200	Enhancers	NHEK	skin
19	chr5:54037600-54039800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:54037600-54039800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr5:54037600-54040600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:54037600-54040600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:54037600-54040800	Enhancers	HMEC	breast
24	chr5:54037600-54040800	Enhancers	Osteobl	bone
25	chr5:54037600-54041200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:54037600-54041200	Enhancers	NH-A	brain
27	chr5:54037600-54041400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:54037600-54042000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:54037800-54040800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:54037800-54041600	Enhancers	NHLF	lung
31	chr5:54038000-54040600	Enhancers	Placenta	Placenta
32	chr5:54038200-54039800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:54038200-54040000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:54038200-54040000	Enhancers	Small Intestine	intestine
35	chr5:54038200-54040600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr5:54038200-54040600	Enhancers	Stomach Mucosa	stomach
37	chr5:54038200-54040800	Enhancers	Adipose Nuclei	Adipose
38	chr5:54038200-54040800	Enhancers	HUVEC	blood vessel
39	chr5:54038200-54041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:54038200-54041400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr5:54038200-54041600	Enhancers	HSMM	muscle
42	chr5:54038200-54041800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:54038200-54041800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr5:54038200-54041800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:54038200-54041800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr5:54038200-54041800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:54038200-54041800	Enhancers	Fetal Heart	heart
48	chr5:54038200-54042000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr5:54038200-54042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:54038400-54039800	Weak transcription	Fetal Intestine Small	intestine

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