Variant report

Variant	rs1818749
Chromosome Location	chr8:119631679-119631680
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1402511	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1402513	0.81[ASN][1000 genomes]
rs1543223	0.81[ASN][1000 genomes]
rs1879510	0.80[ASN][1000 genomes]
rs2003232	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2460969	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460980	0.81[ASN][1000 genomes]
rs2460984	0.81[ASN][1000 genomes]
rs2514577	0.80[ASN][1000 genomes]
rs2514599	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2514601	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2514613	0.80[ASN][1000 genomes]
rs3107482	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119605800-119631800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:119609200-119633000	Weak transcription	Gastric	stomach
3	chr8:119609400-119633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:119619400-119632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:119623200-119632200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:119623800-119632800	Weak transcription	Fetal Lung	lung
7	chr8:119624200-119632800	Weak transcription	Pancreas	Pancrea
8	chr8:119625200-119632000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:119627000-119632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:119627000-119632200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:119627000-119632400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:119627200-119633200	Weak transcription	Aorta	Aorta
13	chr8:119627600-119632800	Weak transcription	NHEK	skin
14	chr8:119627600-119633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:119627800-119632000	Weak transcription	GM12878-XiMat	blood
16	chr8:119627800-119632400	Weak transcription	Left Ventricle	heart
17	chr8:119627800-119632400	Weak transcription	Right Atrium	heart
18	chr8:119627800-119632800	Weak transcription	Colonic Mucosa	Colon
19	chr8:119627800-119632800	Weak transcription	Spleen	Spleen
20	chr8:119628000-119632800	Weak transcription	Esophagus	oesophagus
21	chr8:119628000-119633000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:119629000-119632600	Weak transcription	Brain Anterior Caudate	brain
23	chr8:119629200-119632200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:119630600-119631800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:119630600-119632200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:119630600-119632400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:119630800-119631800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:119630800-119632400	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:119631400-119632800	Weak transcription	Brain Angular Gyrus	brain
30	chr8:119631600-119632600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:119631600-119633200	Weak transcription	Lung	lung

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