Variant report

Variant	rs62512845
Chromosome Location	chr8:108326608-108326609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108324753..108329300-chr8:108347441..108349729,6	K562	blood:
2	chr8:108304841..108306771-chr8:108325164..108328030,2	K562	blood:
3	chr8:108316746..108319440-chr8:108325367..108326969,2	K562	blood:
4	chr8:108325638..108328700-chr8:108330925..108333725,3	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10101176	0.83[AMR][1000 genomes]
rs10108610	0.83[AMR][1000 genomes]
rs10156232	0.81[AMR][1000 genomes]
rs10505102	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955449	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955450	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11774043	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11775037	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781223	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11781621	0.86[AMR][1000 genomes]
rs11997995	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252714	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13257393	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13264444	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13264884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13266757	0.86[AMR][1000 genomes]
rs13270051	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13273632	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13278421	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279592	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1368496	0.83[AMR][1000 genomes]
rs1433178	0.81[AMR][1000 genomes]
rs16876056	0.86[AMR][1000 genomes]
rs17296316	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17361877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368715	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17368821	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2043339	0.81[AMR][1000 genomes]
rs2168410	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2436556	0.89[AMR][1000 genomes]
rs2436562	0.83[AMR][1000 genomes]
rs2445356	0.89[AMR][1000 genomes]
rs2514851	0.89[AMR][1000 genomes]
rs2514853	0.93[AMR][1000 genomes]
rs28636468	0.86[AMR][1000 genomes]
rs34248555	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34294284	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34540943	0.82[ASN][1000 genomes]
rs34597339	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34954748	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35143736	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35855686	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4262299	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4341141	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341142	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4354281	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4506178	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57025371	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000466	0.86[AMR][1000 genomes]
rs7843054	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650029	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108323000-108328000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:108323000-108349000	Weak transcription	HSMM	muscle
4	chr8:108323200-108327400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:108323400-108327000	Weak transcription	Fetal Kidney	kidney
6	chr8:108323400-108327800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:108324400-108326800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:108325200-108327200	Weak transcription	Fetal Thymus	thymus
9	chr8:108325200-108327600	Weak transcription	A549	lung
10	chr8:108325200-108328200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:108325200-108329600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:108325200-108330600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:108325800-108327000	Enhancers	Dnd41	blood
14	chr8:108326000-108330400	Enhancers	Primary T cells from cord blood	blood
15	chr8:108326200-108326800	Enhancers	Primary B cells from cord blood	blood
16	chr8:108326200-108327000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108326200-108327200	Enhancers	HUVEC	blood vessel
18	chr8:108326200-108327200	Enhancers	NHLF	lung
19	chr8:108326200-108328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:108326200-108328200	Enhancers	Fetal Lung	lung
21	chr8:108326200-108328200	Enhancers	Osteobl	bone
22	chr8:108326200-108328400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:108326200-108328400	Enhancers	NHDF-Ad	bronchial
24	chr8:108326400-108327400	Genic enhancers	K562	blood
25	chr8:108326600-108327000	Active TSS	Primary hematopoietic stem cells	blood
26	chr8:108326600-108327000	Weak transcription	Ovary	ovary
27	chr8:108326600-108328400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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