Variant report

Variant	rs7460225
Chromosome Location	chr8:131339373-131339374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
2	chr8:131335598..131338253-chr8:131338429..131341406,2	MCF-7	breast:
3	chr8:131332115..131335468-chr8:131338120..131341741,4	MCF-7	breast:
4	chr8:131338191..131341349-chr8:131343744..131346974,4	K562	blood:
5	chr8:131336874..131339691-chr8:131343974..131346537,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10089819	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[MEX][hapmap]
rs10091450	0.91[CHD][hapmap];0.84[MEX][hapmap]
rs10100892	0.88[CHD][hapmap]
rs1123205	0.89[CHD][hapmap]
rs1158569	0.82[CEU][hapmap];0.84[CHB][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1158570	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11774633	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11774659	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1340021	0.89[CHD][hapmap]
rs1340022	0.89[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.94[ASN][1000 genomes]
rs1538728	0.89[CHD][hapmap]
rs1978550	0.89[CHD][hapmap]
rs2185366	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2554369	0.84[MEX][hapmap]
rs2670885	0.82[CHB][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs2791342	0.81[LWK][hapmap];0.88[MEX][hapmap]
rs2791350	0.81[ASN][1000 genomes]
rs2894508	0.87[CHD][hapmap]
rs2943086	0.84[MEX][hapmap]
rs3057	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733572	0.89[CHD][hapmap]
rs4733768	0.82[CHD][hapmap]
rs6470811	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470816	0.84[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs6984963	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985563	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002892	0.89[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs7008182	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7387699	0.82[ASN][1000 genomes]
rs7464885	0.82[CHD][hapmap]
rs7817803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7839523	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7846376	0.81[LWK][hapmap];0.88[MEX][hapmap];0.89[YRI][hapmap]
rs9297805	0.83[CHD][hapmap];0.94[LWK][hapmap];0.87[MEX][hapmap];0.89[YRI][hapmap]

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:131315600-131353400	Weak transcription	Dnd41	blood
3	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
8	chr8:131331000-131342400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:131331200-131340400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:131331800-131339600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:131331800-131340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:131332000-131340800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:131332600-131341200	Weak transcription	Fetal Stomach	stomach
14	chr8:131332600-131341400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:131332600-131342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:131332600-131344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131332800-131339400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:131332800-131339800	Weak transcription	GM12878-XiMat	blood
19	chr8:131333200-131339600	Enhancers	Brain Anterior Caudate	brain
20	chr8:131333200-131344200	Enhancers	NHDF-Ad	bronchial
21	chr8:131333400-131343000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:131334600-131339800	Enhancers	Fetal Thymus	thymus
23	chr8:131334800-131339400	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:131335200-131339800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:131335200-131339800	Enhancers	Osteobl	bone
27	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:131335400-131339800	Enhancers	NHLF	lung
29	chr8:131335400-131344200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:131335600-131339400	Weak transcription	Pancreas	Pancrea
31	chr8:131335600-131342200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:131335600-131343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:131335800-131339600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:131335800-131339800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:131336000-131340600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
37	chr8:131336200-131340800	Enhancers	Fetal Heart	heart
38	chr8:131336200-131347800	Weak transcription	Liver	Liver
39	chr8:131336400-131342000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:131336800-131341200	Weak transcription	Stomach Mucosa	stomach
42	chr8:131336800-131344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
44	chr8:131337000-131339600	Genic enhancers	A549	lung
45	chr8:131337000-131340000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:131337200-131340400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:131337200-131340400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:131337200-131340800	Weak transcription	Psoas Muscle	Psoas
49	chr8:131337200-131342400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:131337200-131343400	Weak transcription	Gastric	stomach

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