Variant report

Variant	rs17475344
Chromosome Location	chr8:118913823-118913824
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	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13265594	1.00[EUR][1000 genomes]
rs17475323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477476	1.00[EUR][1000 genomes]
rs17504170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504205	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28429320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28626687	0.88[AFR][1000 genomes];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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59529135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60815148	1.00[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704829	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7462118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833960	1.00[EUR][1000 genomes]
rs9297572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656924	1.00[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
2	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:118905600-118914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:118906000-118917600	Enhancers	NHLF	lung
5	chr8:118906600-118915000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118907200-118915000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:118907400-118914600	Weak transcription	HSMM	muscle
8	chr8:118908000-118918200	Weak transcription	HSMMtube	muscle
9	chr8:118908200-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:118909600-118914600	Weak transcription	Fetal Kidney	kidney
12	chr8:118909600-118914800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:118909600-118917600	Weak transcription	Pancreas	Pancrea
14	chr8:118909600-118922200	Weak transcription	Right Ventricle	heart
15	chr8:118909800-118914600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:118909800-118914600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:118909800-118915000	Weak transcription	Ovary	ovary
18	chr8:118909800-118923000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:118910200-118917000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:118910400-118915000	Enhancers	HMEC	breast
21	chr8:118910400-118915200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:118910400-118915400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:118910400-118915600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:118910400-118915800	Enhancers	NH-A	brain
25	chr8:118910400-118916400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:118910600-118917400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:118911200-118917000	Weak transcription	Stomach Mucosa	stomach
28	chr8:118911200-118917600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:118911400-118917400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:118911400-118921800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:118911600-118915400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:118911800-118915600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:118912000-118915600	Weak transcription	Fetal Intestine Small	intestine
34	chr8:118912000-118925800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:118912200-118914600	Weak transcription	Fetal Lung	lung
36	chr8:118912400-118914600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:118912400-118914800	Weak transcription	Liver	Liver
38	chr8:118912400-118915800	Enhancers	NHDF-Ad	bronchial
39	chr8:118912400-118916400	Enhancers	Osteobl	bone
40	chr8:118912600-118914600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:118912600-118914800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:118912600-118915200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:118912800-118914000	Weak transcription	HUVEC	blood vessel
44	chr8:118913000-118914000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:118913000-118915000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:118913000-118915200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:118913000-118915400	Enhancers	NHEK	skin
48	chr8:118913000-118916400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:118913000-118918800	Weak transcription	Aorta	Aorta
50	chr8:118913000-118922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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