Variant report

Variant	rs7018225
Chromosome Location	chr8:131361477-131361478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131340112..131342181-chr8:131360380..131363177,2	K562	blood:
2	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10091313	0.80[CHB][hapmap]
rs1017281	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10956514	0.89[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs1118887	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1123205	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774690	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11774947	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11775292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs12546206	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs13258946	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13265869	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1340021	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1469288	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1538728	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17212137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.81[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1978550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs2033059	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2554373	0.80[CHB][hapmap];0.82[LWK][hapmap]
rs2894508	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs34656350	0.82[EUR][1000 genomes]
rs3935174	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4733571	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap]
rs4733572	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs4733775	0.81[CHB][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs4733776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs4733777	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4733780	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs62525919	0.80[EUR][1000 genomes]
rs62525931	0.92[EUR][1000 genomes]
rs6470805	0.95[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs6470812	0.82[EUR][1000 genomes]
rs6470815	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012705	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7464885	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs7832651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs7839155	0.82[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs876575	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9643252	0.81[CHB][hapmap];0.82[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:131353800-131367600	Weak transcription	Dnd41	blood
6	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
7	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
9	chr8:131354800-131363400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:131355000-131362400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:131355000-131365800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:131355200-131361600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:131355200-131362400	Weak transcription	HepG2	liver
14	chr8:131355400-131365200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:131355400-131369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131355600-131361800	Weak transcription	Pancreas	Pancrea
18	chr8:131355600-131364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
20	chr8:131355800-131362400	Genic enhancers	NHLF	lung
21	chr8:131356800-131363600	Enhancers	Adipose Nuclei	Adipose
22	chr8:131357000-131368400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:131357200-131363000	Enhancers	Brain Substantia Nigra	brain
24	chr8:131357200-131365000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:131357400-131362000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:131357400-131364000	Enhancers	Left Ventricle	heart
27	chr8:131357400-131364200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:131357600-131364800	Enhancers	Right Atrium	heart
29	chr8:131357600-131364800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:131357600-131365000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:131357800-131361600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:131357800-131361800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:131357800-131361800	Enhancers	HSMMtube	muscle
34	chr8:131357800-131362800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:131358000-131362000	Weak transcription	A549	lung
36	chr8:131358000-131369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:131358200-131363600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:131358400-131361800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:131358400-131363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:131358400-131363400	Genic enhancers	HSMM	muscle
41	chr8:131358400-131363600	Enhancers	NHDF-Ad	bronchial
42	chr8:131358600-131361800	Weak transcription	HMEC	breast
43	chr8:131358600-131363400	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:131358600-131364600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:131358800-131367600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:131358800-131368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:131359000-131369000	Weak transcription	Esophagus	oesophagus
48	chr8:131359200-131363000	Enhancers	Spleen	Spleen
49	chr8:131359200-131363200	Enhancers	Psoas Muscle	Psoas
50	chr8:131359200-131364600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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