Variant report

Variant	rs17504246
Chromosome Location	chr8:118919786-118919787
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17474393	1.00[YRI][hapmap]
rs17474727	1.00[YRI][hapmap]
rs17475218	1.00[YRI][hapmap]
rs17475395	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17475471	1.00[AFR][1000 genomes]
rs17503747	1.00[YRI][hapmap]
rs17503997	1.00[YRI][hapmap]
rs17504046	1.00[YRI][hapmap]
rs17504267	1.00[AFR][1000 genomes]
rs17505821	1.00[YRI][hapmap]
rs17505924	1.00[YRI][hapmap]
rs17506086	1.00[YRI][hapmap]
rs17506128	1.00[YRI][hapmap]
rs17506142	1.00[YRI][hapmap]

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:56 , 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	chr8:118913000-118922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:118913000-118922600	Weak transcription	Lung	lung
8	chr8:118913000-118923200	Weak transcription	Gastric	stomach
9	chr8:118913400-118922600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:118913400-118925600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:118915400-118922400	Weak transcription	Fetal Heart	heart
12	chr8:118915600-118922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:118916200-118925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:118917000-118920400	Enhancers	Osteobl	bone
15	chr8:118917400-118919800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:118917400-118920200	Enhancers	HMEC	breast
17	chr8:118917600-118919800	Enhancers	Liver	Liver
18	chr8:118917800-118923200	Weak transcription	Esophagus	oesophagus
19	chr8:118918000-118920000	Enhancers	GM12878-XiMat	blood
20	chr8:118918000-118920000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:118918000-118920000	Enhancers	NHLF	lung
22	chr8:118918000-118920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:118918000-118920200	Enhancers	NHDF-Ad	bronchial
24	chr8:118918000-118923000	Weak transcription	Pancreas	Pancrea
25	chr8:118918200-118919800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:118918200-118919800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:118918200-118919800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:118918200-118919800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:118918200-118919800	Enhancers	HepG2	liver
30	chr8:118918200-118919800	Enhancers	NHEK	skin
31	chr8:118918200-118920000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:118918200-118920000	Enhancers	HUVEC	blood vessel
33	chr8:118918400-118922200	Weak transcription	Ovary	ovary
34	chr8:118918600-118919800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:118918600-118922600	Weak transcription	Fetal Brain Male	brain
36	chr8:118918800-118919800	Enhancers	Aorta	Aorta
37	chr8:118918800-118922600	Weak transcription	HSMMtube	muscle
38	chr8:118919000-118919800	Enhancers	Psoas Muscle	Psoas
39	chr8:118919000-118926800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:118919200-118919800	Enhancers	Brain Hippocampus Middle	brain
41	chr8:118919200-118919800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:118919200-118919800	Enhancers	Right Atrium	heart
43	chr8:118919200-118919800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:118919200-118919800	Enhancers	Small Intestine	intestine
45	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:118919400-118921800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:118919400-118922200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:118919400-118922200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:118919400-118922600	Weak transcription	HSMM	muscle
50	chr8:118919600-118919800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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