Variant report

Variant	rs7816619
Chromosome Location	chr8:52793332-52793333
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52785415..52788968-chr8:52790350..52793500,3	K562	blood:
2	chr8:52792126..52794664-chr8:52809111..52811725,2	MCF-7	breast:
3	chr8:52783171..52785134-chr8:52792313..52793867,2	K562	blood:
4	chr8:52791303..52794426-chr8:52802480..52805773,3	K562	blood:
5	chr8:52781708..52785337-chr8:52790872..52796475,5	K562	blood:

Variant related genes	Relation type
ENSG00000168300	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10106371	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12164174	0.83[AMR][1000 genomes]
rs13255940	0.84[AFR][1000 genomes]
rs4321995	0.83[AMR][1000 genomes]
rs4401853	0.83[AMR][1000 genomes]
rs4545087	0.83[AMR][1000 genomes]
rs4607598	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873620	0.83[AMR][1000 genomes]
rs6473662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6473664	0.83[AMR][1000 genomes]
rs7459831	0.83[AMR][1000 genomes]
rs7459885	1.00[AMR][1000 genomes]
rs7827030	0.83[AMR][1000 genomes]
rs9298468	0.94[AFR][1000 genomes];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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52764000-52793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:52767400-52796600	Weak transcription	Fetal Brain Male	brain
3	chr8:52769800-52793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:52771000-52797800	Weak transcription	Fetal Stomach	stomach
5	chr8:52771800-52797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
7	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
8	chr8:52773000-52803200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:52773600-52797000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:52773600-52797200	Weak transcription	Placenta	Placenta
11	chr8:52779400-52796200	Weak transcription	Brain Germinal Matrix	brain
12	chr8:52779400-52809000	Weak transcription	Fetal Kidney	kidney
13	chr8:52780400-52796400	Weak transcription	Liver	Liver
14	chr8:52780800-52803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:52781000-52793400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:52782200-52809600	Weak transcription	Aorta	Aorta
17	chr8:52782800-52796200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:52783000-52796800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:52783000-52797200	Weak transcription	HSMM	muscle
20	chr8:52783000-52803200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:52783000-52803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:52783000-52803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:52783200-52795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:52783200-52796400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:52783200-52797200	Weak transcription	Fetal Brain Female	brain
26	chr8:52783400-52796600	Weak transcription	NHEK	skin
27	chr8:52783400-52796800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:52783400-52797000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:52784000-52795600	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:52784000-52795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:52784000-52797000	Weak transcription	HMEC	breast
32	chr8:52784000-52797000	Weak transcription	NH-A	brain
33	chr8:52784000-52806600	Weak transcription	Hela-S3	cervix
34	chr8:52784200-52794400	Weak transcription	K562	blood
35	chr8:52784200-52796200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:52784200-52796800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:52784200-52796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:52784200-52797000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:52784200-52797000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:52784200-52806600	Weak transcription	A549	lung
41	chr8:52785000-52796400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:52785200-52796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:52785200-52797000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:52786400-52797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:52786800-52795600	Weak transcription	HUVEC	blood vessel
46	chr8:52786800-52796600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:52786800-52796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:52786800-52797000	Weak transcription	Lung	lung
49	chr8:52786800-52797200	Weak transcription	GM12878-XiMat	blood
50	chr8:52787000-52797000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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