Variant report

Variant	rs17453784
Chromosome Location	chr8:119028106-119028107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17430140	1.00[AFR][1000 genomes]
rs17430645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17430666	1.00[AMR][1000 genomes]
rs17430673	1.00[AMR][1000 genomes]
rs17430755	1.00[AMR][1000 genomes]
rs17430819	1.00[AMR][1000 genomes]
rs17431166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17431208	1.00[AMR][1000 genomes]
rs17431249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17431429	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453105	1.00[AMR][1000 genomes]
rs17453112	1.00[AMR][1000 genomes]
rs17453133	1.00[AMR][1000 genomes]
rs28357283	1.00[AMR][1000 genomes]
rs28357284	1.00[AMR][1000 genomes]
rs56660440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7843728	1.00[AMR][1000 genomes]
rs7843780	1.00[AMR][1000 genomes]
rs7844054	1.00[AMR][1000 genomes]
rs7844255	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
3	chr8:119018000-119033200	Weak transcription	Spleen	Spleen
4	chr8:119021600-119028600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:119021600-119030200	Weak transcription	Brain Germinal Matrix	brain
6	chr8:119021800-119029600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:119021800-119036000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:119022000-119030000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:119022000-119030400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:119023600-119030000	Weak transcription	Gastric	stomach
11	chr8:119024000-119030600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:119024200-119038000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:119024400-119029600	Weak transcription	Fetal Kidney	kidney
14	chr8:119024600-119028200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:119024600-119028200	Weak transcription	Right Ventricle	heart
16	chr8:119024600-119028600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:119024600-119029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:119024600-119029200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:119024600-119029400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:119024600-119031600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:119024600-119033800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:119024800-119028600	Weak transcription	Lung	lung
23	chr8:119024800-119029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:119024800-119029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:119024800-119029600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:119024800-119029600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:119024800-119029600	Weak transcription	HSMMtube	muscle
28	chr8:119024800-119029800	Enhancers	NHDF-Ad	bronchial
29	chr8:119024800-119030000	Weak transcription	Adipose Nuclei	Adipose
30	chr8:119024800-119030200	Weak transcription	Fetal Stomach	stomach
31	chr8:119024800-119031600	Weak transcription	Psoas Muscle	Psoas
32	chr8:119024800-119036000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:119024800-119036600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:119024800-119037000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:119025000-119029600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:119025000-119029800	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:119025000-119030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:119025000-119030200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:119025000-119038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:119025200-119028800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:119025200-119029400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:119025200-119029800	Weak transcription	Fetal Heart	heart
43	chr8:119025400-119029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:119025600-119029600	Weak transcription	Pancreas	Pancrea
45	chr8:119025600-119030000	Weak transcription	Ovary	ovary
46	chr8:119025600-119030400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:119025800-119028200	Weak transcription	Placenta	Placenta
48	chr8:119025800-119029600	Weak transcription	Left Ventricle	heart
49	chr8:119026000-119029000	Weak transcription	Hela-S3	cervix
50	chr8:119026000-119029600	Weak transcription	HUVEC	blood vessel

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