Variant report

Variant	rs2043339
Chromosome Location	chr8:108358009-108358010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108347496..108349858-chr8:108357880..108360055,2	K562	blood:
2	chr8:108346938..108349858-chr8:108355674..108360055,5	K562	blood:
3	chr8:108357325..108361446-chr8:108361724..108366195,5	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 75 )
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];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108610	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10156232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505102	0.90[CHB][hapmap]
rs10955449	0.92[AMR][1000 genomes]
rs10955450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11774043	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11775037	0.81[AMR][1000 genomes]
rs11781223	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11781621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11997995	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs13252714	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13257393	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs13264884	0.81[AMR][1000 genomes]
rs13266757	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270051	0.81[AMR][1000 genomes]
rs13273632	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13278421	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes]
rs1368496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16876056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296316	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17361877	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs17368715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17368821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2168410	1.00[ASN][1000 genomes]
rs2217673	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436556	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436562	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2445350	0.81[ASN][1000 genomes]
rs2445351	1.00[CEU][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2445352	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2445353	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2445354	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2445355	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2445356	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2445357	0.89[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2514848	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2514849	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2514850	1.00[CEU][hapmap];0.81[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2514851	0.91[CEU][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2514852	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2514853	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28636468	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34248555	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34294284	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34597339	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34954748	0.81[ASN][1000 genomes]
rs35143736	0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes]
rs35855686	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4262299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4341141	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes]
rs4341142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4354281	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs4506178	0.92[AMR][1000 genomes]
rs57025371	0.92[AMR][1000 genomes]
rs62512845	0.81[AMR][1000 genomes]
rs7000466	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7843054	0.92[AMR][1000 genomes]
rs9650029	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	esv1832253	chr8:108355808-108371820	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108333600-108368800	Weak transcription	Fetal Kidney	kidney
2	chr8:108337800-108360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
4	chr8:108345600-108365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:108347800-108358600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:108351200-108365600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:108351600-108358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:108351600-108360600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:108352400-108362000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:108352400-108379000	Weak transcription	Psoas Muscle	Psoas
11	chr8:108353000-108358600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:108353400-108358800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:108353600-108358600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:108354400-108358800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:108355200-108358400	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:108355800-108359200	Weak transcription	Left Ventricle	heart
17	chr8:108356000-108358400	Weak transcription	Osteobl	bone
18	chr8:108357000-108358200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:108357200-108358400	Weak transcription	Fetal Lung	lung
20	chr8:108357200-108375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:108357400-108358600	Weak transcription	K562	blood
22	chr8:108357400-108358800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:108357400-108358800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:108357600-108359400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:108357800-108358600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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