Variant report

Variant	rs2514851
Chromosome Location	chr8:108371822-108371823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108368066..108369728-chr8:108370980..108373315,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10101176	0.91[CEU][hapmap];0.85[ASN][1000 genomes]
rs10108610	0.91[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10156232	0.91[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10505102	0.85[AMR][1000 genomes]
rs10955450	1.00[CEU][hapmap]
rs11774043	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11775037	0.89[AMR][1000 genomes]
rs11781223	0.91[CEU][hapmap]
rs11781621	0.91[CEU][hapmap];0.81[ASN][1000 genomes]
rs11997995	0.89[AMR][1000 genomes]
rs13252714	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13257393	0.85[AMR][1000 genomes]
rs13264444	0.85[AMR][1000 genomes]
rs13264884	0.89[AMR][1000 genomes]
rs13266757	0.81[ASN][1000 genomes]
rs13273632	0.82[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13279592	0.83[AMR][1000 genomes]
rs1368496	0.91[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1433178	1.00[CEU][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16876056	0.91[CEU][hapmap];0.85[ASN][1000 genomes]
rs17296316	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17361877	0.89[AMR][1000 genomes]
rs17368715	0.91[CEU][hapmap]
rs17368821	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2043339	0.91[CEU][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2168410	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2217673	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436562	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2445350	0.96[ASN][1000 genomes]
rs2445351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445352	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445354	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445355	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445357	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445365	0.96[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2514848	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514849	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514852	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514853	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514855	0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2514859	0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2514861	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs28636468	0.83[ASN][1000 genomes]
rs34597339	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34954748	0.83[AMR][1000 genomes]
rs4236784	0.84[CHB][hapmap]
rs4262299	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4341142	1.00[CEU][hapmap]
rs4354281	0.85[AMR][1000 genomes]
rs4595097	0.83[CHB][hapmap]
rs4599779	0.84[CHB][hapmap]
rs62512845	0.89[AMR][1000 genomes]
rs7846052	0.83[CHB][hapmap]
rs9650029	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
2	chr8:108352400-108379000	Weak transcription	Psoas Muscle	Psoas
3	chr8:108357200-108375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:108358600-108375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:108359000-108374400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:108360400-108374400	Weak transcription	Fetal Heart	heart
7	chr8:108365800-108372600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:108368000-108372400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:108368400-108372800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:108368800-108372000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:108368800-108372200	Weak transcription	NHDF-Ad	bronchial
12	chr8:108369200-108377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:108369400-108372000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:108369800-108372200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:108370200-108372400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:108370200-108381200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:108370400-108372000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:108370400-108372000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:108370600-108372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:108371000-108372200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:108371000-108379000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:108371200-108380400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:108371400-108389400	Weak transcription	Osteobl	bone
24	chr8:108371800-108372200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:108371800-108372400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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