Variant report

Variant	rs73634627
Chromosome Location	chr8:42659347-42659348
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	chr8:42644691..42646706-chr8:42657685..42660504,2	K562	blood:
2	chr8:42654132..42656117-chr8:42658872..42660795,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11992987	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993799	1.00[AMR][1000 genomes]
rs11994115	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995172	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718980	1.00[AMR][1000 genomes]
rs28840077	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35327613	1.00[AMR][1000 genomes]
rs35506493	1.00[AMR][1000 genomes]
rs57071761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59592639	1.00[AMR][1000 genomes]
rs60133450	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61224035	1.00[AMR][1000 genomes]
rs6985448	1.00[AMR][1000 genomes]
rs6989452	1.00[AMR][1000 genomes]
rs73627250	1.00[AMR][1000 genomes]
rs73629108	1.00[AMR][1000 genomes]
rs73633750	1.00[AMR][1000 genomes]
rs73633762	1.00[AMR][1000 genomes]
rs73633763	1.00[AMR][1000 genomes]
rs73634623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634652	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635357	1.00[AMR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42647800-42660200	Weak transcription	Right Atrium	heart
2	chr8:42652400-42660600	Weak transcription	Placenta	Placenta
3	chr8:42652800-42660200	Weak transcription	Thymus	Thymus
4	chr8:42655400-42660800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:42656800-42660000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:42656800-42660200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:42656800-42660600	Enhancers	Primary B cells from cord blood	blood
8	chr8:42657000-42659800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:42657000-42660000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:42657000-42660200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:42657000-42660200	Weak transcription	Dnd41	blood
12	chr8:42657600-42660000	Weak transcription	Liver	Liver
13	chr8:42658000-42660800	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:42658400-42659400	Flanking Active TSS	GM12878-XiMat	blood
15	chr8:42658400-42660000	Enhancers	HepG2	liver
16	chr8:42658600-42659400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:42658600-42659400	Enhancers	Adipose Nuclei	Adipose
18	chr8:42658600-42659400	Enhancers	K562	blood
19	chr8:42658600-42660000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:42658600-42660200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:42658600-42660400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:42658600-42660600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:42658600-42660800	Enhancers	Primary T cells from cord blood	blood
24	chr8:42658600-42660800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:42658600-42660800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:42658600-42660800	Enhancers	Brain Anterior Caudate	brain
27	chr8:42658800-42659400	Enhancers	Ovary	ovary
28	chr8:42658800-42659400	Enhancers	Psoas Muscle	Psoas
29	chr8:42658800-42660000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:42658800-42660000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:42658800-42660200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:42658800-42660200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:42658800-42660200	Enhancers	Brain Hippocampus Middle	brain
34	chr8:42658800-42660200	Enhancers	Fetal Kidney	kidney
35	chr8:42658800-42660400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:42658800-42660400	Enhancers	Fetal Thymus	thymus
37	chr8:42658800-42660600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:42658800-42660800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:42658800-42660800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr8:42658800-42660800	Enhancers	Brain Angular Gyrus	brain
41	chr8:42658800-42660800	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:42658800-42660800	Enhancers	Brain Substantia Nigra	brain
43	chr8:42659000-42659400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:42659000-42659400	Enhancers	Fetal Lung	lung
45	chr8:42659000-42659400	Enhancers	Rectal Smooth Muscle	rectum
46	chr8:42659000-42660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:42659000-42660000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:42659000-42660000	Weak transcription	Pancreas	Pancrea
49	chr8:42659000-42660200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:42659000-42660400	Enhancers	Left Ventricle	heart

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