Variant report

Variant	rs34248555
Chromosome Location	chr8:108342743-108342744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108306316..108309008-chr8:108341130..108342850,2	K562	blood:
2	chr8:108327353..108329181-chr8:108342640..108344430,2	K562	blood:
3	chr8:108315162..108317666-chr8:108340503..108343303,2	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10101176	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10108610	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10156232	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10505102	0.82[AMR][1000 genomes]
rs10955449	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10955450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774043	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11775037	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11781223	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11997995	0.86[AMR][1000 genomes]
rs13252714	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13257393	0.82[AMR][1000 genomes]
rs13264444	0.82[AMR][1000 genomes]
rs13264884	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13266757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13270051	0.86[AMR][1000 genomes]
rs13273632	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278421	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13279592	0.80[AMR][1000 genomes]
rs1368496	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1433178	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16876056	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17296316	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361877	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17368715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17368821	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2043339	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2168410	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2217673	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2436562	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2445351	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2445352	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2445353	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2445354	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2445355	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2445357	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2514848	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2514849	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2514850	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2514852	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2514853	0.80[AMR][1000 genomes]
rs28636468	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34294284	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34597339	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34954748	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35143736	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35855686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4262299	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341141	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4341142	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4354281	0.82[AMR][1000 genomes]
rs4506178	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57025371	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62512845	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7000466	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843054	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9650029	0.86[AMR][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:30 , 50 per page) page: 1

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

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