Variant report

Variant	rs2959031
Chromosome Location	chr8:105518980-105518981
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	chr8:105518486..105520827-chr8:105523063..105525599,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11990136	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871578	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871644	1.00[ASN][1000 genomes]
rs2959027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793353	1.00[CHB][hapmap]
rs4598225	1.00[ASN][1000 genomes]
rs4734798	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs4734800	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734801	1.00[ASN][1000 genomes]
rs6982776	1.00[ASN][1000 genomes]
rs7839612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
2	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:105500800-105519800	Strong transcription	Dnd41	blood
4	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:105501800-105521000	Weak transcription	NHEK	skin
6	chr8:105503600-105519000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:105503600-105520800	Weak transcription	Pancreas	Pancrea
8	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
9	chr8:105503800-105525000	Weak transcription	Fetal Stomach	stomach
10	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
11	chr8:105505400-105521800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:105506000-105520800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:105506400-105520000	Weak transcription	Right Ventricle	heart
14	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
15	chr8:105510200-105519800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:105510200-105520400	Weak transcription	Lung	lung
17	chr8:105510200-105521200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:105510200-105524600	Weak transcription	NHLF	lung
19	chr8:105510200-105525400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:105510200-105546200	Weak transcription	HMEC	breast
21	chr8:105510400-105521600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
23	chr8:105510800-105531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:105511000-105522200	Weak transcription	Fetal Kidney	kidney
25	chr8:105511000-105525800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:105511000-105527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:105511000-105529800	Weak transcription	Fetal Lung	lung
28	chr8:105511200-105519400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:105511200-105525200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:105511600-105519400	Weak transcription	Brain Germinal Matrix	brain
31	chr8:105511600-105520000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:105511600-105525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:105511600-105525600	Weak transcription	GM12878-XiMat	blood
34	chr8:105511800-105519600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:105511800-105520200	Weak transcription	NH-A	brain
36	chr8:105511800-105520400	Weak transcription	Fetal Intestine Large	intestine
37	chr8:105511800-105524600	Weak transcription	Osteobl	bone
38	chr8:105511800-105527000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:105511800-105532600	Weak transcription	HSMM	muscle
40	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:105513000-105520000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:105514800-105529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:105515000-105519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:105515000-105519200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:105515000-105521000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:105515000-105525600	Weak transcription	Left Ventricle	heart
49	chr8:105515000-105525600	Weak transcription	Thymus	Thymus
50	chr8:105515200-105519800	Weak transcription	Brain Hippocampus Middle	brain

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