Variant report

Variant	rs73329808
Chromosome Location	chr8:120594927-120594928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120591734..120593334-chr8:120594765..120597476,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16892807	0.83[EUR][1000 genomes]
rs66698379	0.81[AFR][1000 genomes]
rs73326164	0.89[AFR][1000 genomes]
rs73329822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs965669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs965670	0.85[EUR][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
5	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
7	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
8	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:120579400-120597000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:120580000-120595000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:120585000-120595000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:120587000-120598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:120587600-120595600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:120589000-120595600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:120589000-120598000	Strong transcription	Fetal Lung	lung
17	chr8:120589200-120595000	Strong transcription	Adipose Nuclei	Adipose
18	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
19	chr8:120590800-120596200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
21	chr8:120591600-120600000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:120591800-120595200	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:120591800-120595400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:120592000-120597400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:120592400-120598800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:120592800-120597800	Weak transcription	HSMMtube	muscle
27	chr8:120592800-120599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:120593000-120596200	Weak transcription	Esophagus	oesophagus
29	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:120593600-120595200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr8:120593600-120595400	Enhancers	NHEK	skin
32	chr8:120593600-120596200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:120593600-120596400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:120593800-120597400	Weak transcription	HSMM	muscle
35	chr8:120593800-120599600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:120593800-120599800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:120593800-120600000	Strong transcription	Liver	Liver
38	chr8:120594000-120595200	Weak transcription	HMEC	breast
39	chr8:120594000-120596200	Strong transcription	Primary T cells from cord blood	blood
40	chr8:120594000-120598000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:120594200-120595200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:120594200-120595800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:120594200-120598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:120594400-120595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:120594400-120595200	Weak transcription	NHLF	lung
46	chr8:120594400-120596000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:120594400-120597600	Weak transcription	NH-A	brain
48	chr8:120594600-120595600	Strong transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:120594600-120596400	Genic enhancers	Osteobl	bone
50	chr8:120594600-120597400	Strong transcription	Placenta	Placenta

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