Variant report

Variant	rs6468937
Chromosome Location	chr8:105587257-105587258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10505060	0.85[AMR][1000 genomes]
rs16871526	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	0.83[AMR][1000 genomes]
rs16871583	0.81[YRI][hapmap];0.83[AMR][1000 genomes]
rs4623378	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57833872	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59281154	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59552566	0.83[AMR][1000 genomes]
rs61129183	0.83[AMR][1000 genomes]
rs7016642	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295108	0.83[AMR][1000 genomes]
rs73295119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295122	0.83[AMR][1000 genomes]
rs73295133	0.83[AMR][1000 genomes]
rs73295137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295149	0.85[AMR][1000 genomes]
rs73297124	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7812405	0.83[AMR][1000 genomes]
rs7813553	0.83[AMR][1000 genomes]
rs7813587	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813945	1.00[EUR][1000 genomes]
rs7815209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833483	0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs7837425	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838928	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2445240	chr8:105586005-105587338	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105579800-105587600	Weak transcription	Fetal Heart	heart
2	chr8:105581600-105590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:105581600-105593000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:105581600-105598600	Weak transcription	Osteobl	bone
5	chr8:105584200-105588000	Weak transcription	Ovary	ovary
6	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
7	chr8:105584600-105587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:105584600-105598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:105585600-105587400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:105585600-105587400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:105585600-105587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:105586200-105588000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:105587000-105587400	Enhancers	Dnd41	blood
14	chr8:105587000-105587800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:105587000-105588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:105587000-105589200	Enhancers	K562	blood
17	chr8:105587200-105587600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:105587200-105587600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:105587200-105587600	Enhancers	Gastric	stomach
20	chr8:105587200-105587600	Enhancers	Psoas Muscle	Psoas
21	chr8:105587200-105587600	Enhancers	Right Atrium	heart
22	chr8:105587200-105587800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:105587200-105587800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:105587200-105587800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:105587200-105587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:105587200-105588000	Flanking Active TSS	GM12878-XiMat	blood
27	chr8:105587200-105588200	Enhancers	Right Ventricle	heart
28	chr8:105587200-105588400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:105587200-105588800	Enhancers	Fetal Thymus	thymus
30	chr8:105587200-105588800	Enhancers	Left Ventricle	heart
31	chr8:105587200-105589000	Enhancers	Thymus	Thymus

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