Variant report

Variant	rs7002090
Chromosome Location	chr8:96088317-96088318
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr8:96088149-96088327	MCF10A-Er-Src	breast:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088231-96088241 chr8:96088230-96088241
2	RFX5	chr8:96088244-96088334	K562	blood:	n/a	n/a
3	FOSL1	chr8:96087887-96088924	HCT-116	colon:	n/a	chr8:96088810-96088817 chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088809-96088818 chr8:96088810-96088819 chr8:96088810-96088818 chr8:96088146-96088160 chr8:96088231-96088241
4	JUND	chr8:96088047-96088421	HepG2	liver:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088230-96088241 chr8:96088231-96088241
5	FOSL2	chr8:96088010-96088394	HepG2	liver:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088231-96088241
6	FOS	chr8:96088079-96088345	HUVEC	blood vessel:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088231-96088241 chr8:96088230-96088241
7	JUN	chr8:96088158-96088517	K562	blood:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088231-96088241
8	JUND	chr8:96088058-96088410	K562	blood:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088230-96088241 chr8:96088231-96088241
9	JUN	chr8:96088060-96088423	HepG2	liver:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088231-96088241
10	FOS	chr8:96088064-96088342	MCF10A-Er-Src	breast:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088231-96088241 chr8:96088230-96088241
11	FOS	chr8:96088061-96088425	MCF10A-Er-Src	breast:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088231-96088241 chr8:96088230-96088241
12	ARID3A	chr8:96086881-96088345	HepG2	liver:	n/a	n/a
13	FOSL1	chr8:96087958-96088990	HCT-116	colon:	n/a	chr8:96088810-96088817 chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088809-96088818 chr8:96088810-96088819 chr8:96088810-96088818 chr8:96088146-96088160 chr8:96088231-96088241
14	FOS	chr8:96088126-96088409	MCF10A-Er-Src	breast:	n/a	chr8:96088232-96088241 chr8:96088231-96088240 chr8:96088146-96088160 chr8:96088231-96088241 chr8:96088230-96088241

No.	Distal block	Cell Line	Cell type
1	chr8:96087997..96090482-chr8:96096727..96098708,2	K562	blood:
2	chr8:95962267..95964815-chr8:96087157..96088833,2	MCF-7	breast:
3	chr8:96086411..96088637-chr8:96175258..96177265,2	MCF-7	breast:
4	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
5	chr8:96087016..96088619-chr8:96092629..96094625,2	K562	blood:
6	chr8:96086982..96089497-chr8:96096571..96099137,3	K562	blood:
7	chr8:96087772..96089911-chr8:96238508..96240959,2	MCF-7	breast:
8	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
9	chr8:95651261..95654150-chr8:96088265..96089954,2	MCF-7	breast:
10	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHF2-3	chr8:96088313-96089041	NONHSAT127823

Variant related genes	Relation type
MIR3150A	TF binding region
ENSG00000104413	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11778995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779506	0.83[CEU][hapmap]
rs11785698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279040	0.83[CEU][hapmap]
rs1878736	0.85[ASN][1000 genomes]
rs1996500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2044899	0.81[JPT][hapmap];0.85[AFR][1000 genomes]
rs2119588	0.88[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs2165496	0.82[ASN][1000 genomes]
rs2165497	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs2599701	0.94[ASN][1000 genomes]
rs2599702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2599703	1.00[ASN][1000 genomes]
rs2599704	0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2599705	0.88[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2678839	0.97[ASN][1000 genomes]
rs2678840	0.94[ASN][1000 genomes]
rs28416970	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2923814	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs2945565	0.96[ASN][1000 genomes]
rs2945566	0.93[ASN][1000 genomes]
rs34824997	0.96[ASN][1000 genomes]
rs4379417	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs4641029	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs6471509	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6471510	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6471513	0.88[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6471514	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6471515	0.82[ASN][1000 genomes]
rs6980872	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011768	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7011919	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs966459	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs9720421	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96084800-96088400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:96085600-96088600	Enhancers	Stomach Mucosa	stomach
4	chr8:96085600-96098200	Weak transcription	Gastric	stomach
5	chr8:96085800-96088600	Enhancers	Liver	Liver
6	chr8:96085800-96089200	Weak transcription	HMEC	breast
7	chr8:96085800-96089800	Weak transcription	Spleen	Spleen
8	chr8:96086000-96088600	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:96086000-96088600	Weak transcription	Colonic Mucosa	Colon
10	chr8:96086000-96088800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:96086000-96092200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:96086000-96098200	Weak transcription	Thymus	Thymus
13	chr8:96086600-96088600	Enhancers	K562	blood
14	chr8:96086600-96088800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:96086800-96088800	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:96087000-96088600	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:96087000-96088800	Enhancers	Fetal Intestine Large	intestine
18	chr8:96087000-96088800	Enhancers	Placenta	Placenta
19	chr8:96087200-96088800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:96087200-96088800	Enhancers	HepG2	liver
21	chr8:96087200-96089400	Weak transcription	GM12878-XiMat	blood
22	chr8:96087400-96088600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:96087400-96091200	Enhancers	Primary B cells from cord blood	blood
24	chr8:96087600-96088800	Enhancers	Fetal Intestine Small	intestine
25	chr8:96087600-96089800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:96087800-96088600	Enhancers	Lung	lung
27	chr8:96087800-96090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:96087800-96090200	Enhancers	NHEK	skin
29	chr8:96088000-96088800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:96088000-96089200	Weak transcription	Osteobl	bone
31	chr8:96088000-96090400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:96088000-96090400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:96088000-96090800	Weak transcription	Brain Angular Gyrus	brain
34	chr8:96088200-96088400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:96088200-96088400	Weak transcription	A549	lung
36	chr8:96088200-96090000	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:96088200-96090000	Weak transcription	Pancreas	Pancrea
38	chr8:96088200-96098000	Weak transcription	Fetal Kidney	kidney

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