Variant report

Variant	rs73704830
Chromosome Location	chr8:118918553-118918554
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118911988-118922970..8:119208477-119211356	GM12878	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10088632	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13265594	1.00[EUR][1000 genomes]
rs17475323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475337	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475344	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475351	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475358	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477476	1.00[EUR][1000 genomes]
rs17504170	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504205	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17506336	1.00[EUR][1000 genomes]
rs2019967	1.00[EUR][1000 genomes]
rs28376539	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28429320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28626687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3101578	1.00[EUR][1000 genomes]
rs3134313	1.00[EUR][1000 genomes]
rs4242577	1.00[EUR][1000 genomes]
rs4377987	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59529135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60815148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999867	1.00[EUR][1000 genomes]
rs73312336	1.00[EUR][1000 genomes]
rs73312339	1.00[EUR][1000 genomes]
rs7357537	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704827	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704831	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7462118	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833960	1.00[EUR][1000 genomes]
rs9297572	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656924	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:118909600-118922200	Weak transcription	Right Ventricle	heart
3	chr8:118909800-118923000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:118911400-118921800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:118912000-118925800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:118913000-118918800	Weak transcription	Aorta	Aorta
7	chr8:118913000-118922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:118913000-118922600	Weak transcription	Lung	lung
9	chr8:118913000-118923200	Weak transcription	Gastric	stomach
10	chr8:118913400-118922600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:118913400-118925600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:118915000-118918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118915000-118919200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:118915400-118922400	Weak transcription	Fetal Heart	heart
15	chr8:118915600-118922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:118916200-118925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:118916400-118919000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:118916600-118918800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:118917000-118918800	Enhancers	Stomach Mucosa	stomach
20	chr8:118917000-118920400	Enhancers	Osteobl	bone
21	chr8:118917400-118918800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:118917400-118919000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:118917400-118919800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:118917400-118920200	Enhancers	HMEC	breast
25	chr8:118917600-118919400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr8:118917600-118919800	Enhancers	Liver	Liver
27	chr8:118917800-118923200	Weak transcription	Esophagus	oesophagus
28	chr8:118918000-118919200	Enhancers	NH-A	brain
29	chr8:118918000-118920000	Enhancers	GM12878-XiMat	blood
30	chr8:118918000-118920000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:118918000-118920000	Enhancers	NHLF	lung
32	chr8:118918000-118920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:118918000-118920200	Enhancers	NHDF-Ad	bronchial
34	chr8:118918000-118923000	Weak transcription	Pancreas	Pancrea
35	chr8:118918200-118918800	Enhancers	HSMMtube	muscle
36	chr8:118918200-118919200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:118918200-118919200	Enhancers	Hela-S3	cervix
38	chr8:118918200-118919400	Enhancers	HSMM	muscle
39	chr8:118918200-118919600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:118918200-118919600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:118918200-118919800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:118918200-118919800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:118918200-118919800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:118918200-118919800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:118918200-118919800	Enhancers	HepG2	liver
46	chr8:118918200-118919800	Enhancers	NHEK	skin
47	chr8:118918200-118920000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:118918200-118920000	Enhancers	HUVEC	blood vessel
49	chr8:118918400-118918600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:118918400-118918600	Enhancers	Fetal Lung	lung

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