Variant report

Variant	rs2613225
Chromosome Location	chr8:95232449-95232450
allele	G/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	GATA3	chr8:95231590-95232468	A549	lung:	n/a	n/a
2	MAX	chr8:95231641-95232497	HCT-116	colon:	n/a	n/a
3	MAX	chr8:95231513-95232623	HCT-116	colon:	n/a	n/a
4	FOSL1	chr8:95231637-95232491	HCT-116	colon:	n/a	n/a
5	FOSL1	chr8:95231596-95232554	HCT-116	colon:	n/a	n/a
6	SP1	chr8:95231607-95232451	HCT-116	colon:	n/a	n/a
7	MTA3	chr8:95232428-95233134	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95223330..95225554-chr8:95230383..95232655,2	MCF-7	breast:

Variant related genes	Relation type
CDH17	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10956905	0.82[ASN][1000 genomes]
rs10956906	0.82[ASN][1000 genomes]
rs11777372	0.82[ASN][1000 genomes]
rs11779791	0.82[ASN][1000 genomes]
rs12114629	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1350283	0.82[ASN][1000 genomes]
rs1531208	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1531209	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1531210	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17727794	0.82[ASN][1000 genomes]
rs1817245	0.82[ASN][1000 genomes]
rs1870046	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445705	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2445707	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2446853	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2446856	0.89[ASN][1000 genomes]
rs2446857	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2446858	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2446861	0.92[ASN][1000 genomes]
rs2448908	0.85[ASN][1000 genomes]
rs2448909	0.87[ASN][1000 genomes]
rs2607061	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2607063	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2613208	0.86[ASN][1000 genomes]
rs2613212	0.84[ASN][1000 genomes]
rs2613213	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2613214	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2613215	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2613229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2613231	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2613233	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2623155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623156	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523266	0.82[ASN][1000 genomes]
rs62523277	0.82[ASN][1000 genomes]
rs62523279	0.83[ASN][1000 genomes]
rs6981215	0.84[ASN][1000 genomes]
rs723360	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs755917	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7819765	0.84[ASN][1000 genomes]
rs9642922	0.82[ASN][1000 genomes]
rs9643341	0.82[ASN][1000 genomes]
rs978639	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022972	chr8:95189085-95245392	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv518636	chr8:95196794-95233336	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv522024	chr8:95199215-95232449	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95230000-95245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:95231000-95232600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:95231000-95232800	Enhancers	NH-A	brain
4	chr8:95231200-95232600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:95231200-95232800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:95231200-95232800	Enhancers	Osteobl	bone
7	chr8:95231200-95233000	Enhancers	HSMM	muscle
8	chr8:95231200-95233200	Enhancers	NHDF-Ad	bronchial
9	chr8:95231200-95233400	Enhancers	HMEC	breast
10	chr8:95231400-95232800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:95231400-95233400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:95231600-95232800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:95231600-95233000	Enhancers	Fetal Heart	heart
14	chr8:95231600-95233000	Flanking Active TSS	GM12878-XiMat	blood
15	chr8:95231600-95233200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:95231800-95232600	Enhancers	Stomach Mucosa	stomach
17	chr8:95231800-95232800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:95232000-95232800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:95232000-95233000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:95232000-95239200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:95232200-95233000	Enhancers	Hela-S3	cervix
22	chr8:95232200-95236200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:95232200-95245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:95232400-95233000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:95232400-95233000	Enhancers	A549	lung
26	chr8:95232400-95236000	Weak transcription	NHLF	lung
27	chr8:95232400-95238200	Weak transcription	Left Ventricle	heart
28	chr8:95232400-95239200	Weak transcription	HSMMtube	muscle

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