Variant report

Variant	rs4262299
Chromosome Location	chr8:108342263-108342264
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108323328..108325135-chr8:108339439..108342402,2	MCF-7	breast:
2	chr8:108306316..108309008-chr8:108341130..108342850,2	K562	blood:
3	chr8:108315162..108317666-chr8:108340503..108343303,2	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10101176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10108610	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10156232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10505102	0.90[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10955449	0.84[AMR][1000 genomes]
rs10955450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11775037	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11781223	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11997995	0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13252714	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13257393	0.95[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13264444	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13264884	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13266757	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13270051	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13273632	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278421	0.94[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13279592	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1368496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1433178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16876056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17296316	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361877	0.95[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17368715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17368821	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2043339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2168410	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2217673	1.00[CEU][hapmap]
rs2436556	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2436562	0.83[AMR][1000 genomes]
rs2445351	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap]
rs2445352	1.00[CEU][hapmap]
rs2445353	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap]
rs2445354	1.00[CEU][hapmap]
rs2445356	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2445357	0.84[JPT][hapmap]
rs2514848	1.00[CEU][hapmap]
rs2514849	1.00[CEU][hapmap]
rs2514850	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap]
rs2514851	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2514852	1.00[CEU][hapmap]
rs2514853	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28636468	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34248555	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34294284	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34597339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34954748	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35143736	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35855686	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341141	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4341142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4354281	0.95[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4506178	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57025371	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62512845	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7000466	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843054	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9650029	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1027447	chr8:108335387-108365566	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108323000-108349000	Weak transcription	HSMM	muscle
2	chr8:108328200-108342600	Weak transcription	Osteobl	bone
3	chr8:108328200-108344000	Weak transcription	Aorta	Aorta
4	chr8:108328400-108344000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:108333600-108368800	Weak transcription	Fetal Kidney	kidney
6	chr8:108337000-108344600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:108337800-108360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:108340000-108343800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:108340000-108344600	Weak transcription	Ovary	ovary
10	chr8:108340200-108343800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:108340400-108342400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:108340400-108344600	Weak transcription	Fetal Heart	heart
13	chr8:108340600-108345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:108341800-108342400	Genic enhancers	K562	blood
15	chr8:108341800-108343000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:108342000-108342600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:108342000-108342800	Enhancers	Adipose Nuclei	Adipose
18	chr8:108342000-108342800	Enhancers	Colon Smooth Muscle	Colon
19	chr8:108342000-108343000	Enhancers	Fetal Lung	lung
20	chr8:108342000-108343800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:108342200-108342400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:108342200-108342400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr8:108342200-108342800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr8:108342200-108343000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:108342200-108343000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr8:108342200-108343000	Flanking Active TSS	NHLF	lung
27	chr8:108342200-108343200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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