Variant report

Variant	rs73323916
Chromosome Location	chr8:118954199-118954200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17453427	1.00[AFR][1000 genomes]
rs56844743	0.83[AFR][1000 genomes]
rs57399568	1.00[AFR][1000 genomes]
rs60553718	0.83[AFR][1000 genomes]
rs61016956	1.00[AFR][1000 genomes]
rs73323905	0.83[AFR][1000 genomes]
rs73323906	0.83[AFR][1000 genomes]
rs73323935	1.00[AFR][1000 genomes]
rs73323942	1.00[AFR][1000 genomes]
rs73323945	1.00[AFR][1000 genomes]
rs73323948	1.00[AFR][1000 genomes]
rs73323954	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
2	chr8:118946800-118958600	Weak transcription	Pancreas	Pancrea
3	chr8:118947000-118956000	Weak transcription	Gastric	stomach
4	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
5	chr8:118949200-118954400	Enhancers	HMEC	breast
6	chr8:118949400-118954400	Enhancers	HUVEC	blood vessel
7	chr8:118950000-118958800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:118950400-118955800	Weak transcription	Stomach Mucosa	stomach
9	chr8:118950400-118956000	Weak transcription	Fetal Thymus	thymus
10	chr8:118950400-118956200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:118950400-118958600	Weak transcription	Fetal Heart	heart
12	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:118950400-118960200	Weak transcription	Psoas Muscle	Psoas
15	chr8:118950600-118956000	Weak transcription	Fetal Intestine Large	intestine
16	chr8:118950600-118958000	Weak transcription	HepG2	liver
17	chr8:118950600-118958200	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:118950600-118960600	Weak transcription	Ovary	ovary
19	chr8:118950800-118956000	Weak transcription	Small Intestine	intestine
20	chr8:118950800-118959200	Weak transcription	Fetal Stomach	stomach
21	chr8:118951200-118954200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:118951200-118954400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:118951200-118954400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:118951600-118954200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:118951800-118954200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:118952000-118954200	Enhancers	NH-A	brain
27	chr8:118952000-118954600	Genic enhancers	Osteobl	bone
28	chr8:118952200-118954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:118952200-118954600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:118952200-118954600	Enhancers	NHEK	skin
31	chr8:118952400-118954200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:118952400-118954200	Enhancers	Lung	lung
33	chr8:118952400-118954200	Enhancers	Right Atrium	heart
34	chr8:118952400-118954800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:118953000-118954200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:118953000-118954200	Enhancers	Dnd41	blood
37	chr8:118953000-118954400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr8:118953000-118954400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:118953000-118954400	Genic enhancers	NHLF	lung
40	chr8:118953000-118954600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr8:118953000-118954600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:118953000-118954600	Enhancers	NHDF-Ad	bronchial
43	chr8:118953200-118954200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:118953200-118954400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:118953200-118954400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:118953200-118954400	Enhancers	A549	lung
47	chr8:118953200-118958600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:118953200-118960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:118953400-118958400	Weak transcription	Fetal Lung	lung
50	chr8:118953400-118958600	Weak transcription	H1 Cell Line	embryonic stem cell

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