Variant report

Variant	rs73427321
Chromosome Location	chr8:131233404-131233405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56928931	1.00[AMR][1000 genomes]
rs6991291	1.00[AMR][1000 genomes]
rs73405551	1.00[AMR][1000 genomes]
rs73405564	1.00[AMR][1000 genomes]
rs73405594	1.00[AMR][1000 genomes]
rs73409351	0.91[AFR][1000 genomes]
rs73425394	1.00[AMR][1000 genomes]
rs73427311	1.00[AMR][1000 genomes]
rs73427312	1.00[AMR][1000 genomes]
rs73427313	1.00[AMR][1000 genomes]
rs73427316	1.00[AMR][1000 genomes]
rs73427318	1.00[AMR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
2	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
3	chr8:131210000-131250400	Weak transcription	Gastric	stomach
4	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:131214600-131238200	Weak transcription	Ovary	ovary
7	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:131217200-131237000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:131217400-131235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
12	chr8:131219200-131236000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:131219200-131238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:131219200-131246800	Weak transcription	Fetal Thymus	thymus
15	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:131219800-131235400	Weak transcription	Fetal Intestine Large	intestine
17	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:131220200-131233800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:131220200-131233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:131220200-131239400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:131220200-131240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:131220200-131240400	Weak transcription	HSMMtube	muscle
25	chr8:131220200-131248000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:131220800-131233800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:131224600-131237000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:131225200-131233800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:131225200-131245400	Weak transcription	Dnd41	blood
30	chr8:131225200-131246200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:131225200-131250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:131225200-131253400	Weak transcription	Right Ventricle	heart
33	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
34	chr8:131226200-131238800	Weak transcription	NHEK	skin
35	chr8:131226200-131245200	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:131226200-131248000	Weak transcription	Psoas Muscle	Psoas
37	chr8:131226200-131251600	Weak transcription	K562	blood
38	chr8:131226400-131233600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:131226400-131244000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:131226400-131246600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:131226600-131233800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:131226600-131245200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:131226800-131234000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:131226800-131234000	Weak transcription	Primary T cells from cord blood	blood
45	chr8:131226800-131244000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:131227000-131238600	Weak transcription	HMEC	breast
47	chr8:131227000-131245600	Weak transcription	Placenta	Placenta
48	chr8:131227000-131246200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:131227000-131246400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:131227200-131235600	Weak transcription	NH-A	brain

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