Variant report

Variant	rs7838916
Chromosome Location	chr8:110618457-110618458
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr8:110618428-110620651	HCT-116	colon:	n/a	n/a
2	CEBPB	chr8:110618416-110619874	Hela-S3	cervix:	n/a	chr8:110619257-110619268

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110598326..110600037-chr8:110615498..110618470,2	K562	blood:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61741363	1.00[AMR][1000 genomes]
rs6469258	1.00[AMR][1000 genomes]
rs6469259	1.00[AMR][1000 genomes]
rs6469269	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6996280	1.00[AMR][1000 genomes]
rs7000579	1.00[AMR][1000 genomes]
rs7008100	1.00[AMR][1000 genomes]
rs7834361	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110610600-110618600	Weak transcription	HMEC	breast
3	chr8:110612200-110624200	Weak transcription	Aorta	Aorta
4	chr8:110613600-110620800	Enhancers	Fetal Intestine Small	intestine
5	chr8:110614000-110619600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:110614200-110618800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:110614200-110619400	Weak transcription	NHLF	lung
8	chr8:110614600-110619600	Weak transcription	Brain Substantia Nigra	brain
9	chr8:110615400-110619600	Weak transcription	Esophagus	oesophagus
10	chr8:110615600-110618600	Weak transcription	Colonic Mucosa	Colon
11	chr8:110615600-110620400	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:110615600-110623000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:110615800-110619600	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:110615800-110621600	Enhancers	Stomach Mucosa	stomach
15	chr8:110616000-110619000	Weak transcription	Fetal Kidney	kidney
16	chr8:110616000-110619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:110616200-110618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:110616200-110619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:110616200-110619800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:110616200-110620200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:110616200-110623000	Weak transcription	Adipose Nuclei	Adipose
22	chr8:110616600-110619600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr8:110616800-110618600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:110616800-110620400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:110617000-110618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:110617000-110618600	Enhancers	A549	lung
27	chr8:110617000-110619800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:110617000-110620600	Enhancers	Hela-S3	cervix
29	chr8:110617200-110619600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:110617200-110621200	Enhancers	Fetal Intestine Large	intestine
31	chr8:110617200-110625800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:110617200-110626600	Weak transcription	Right Atrium	heart
33	chr8:110617400-110618600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:110617400-110619200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:110617400-110619200	Weak transcription	HepG2	liver
36	chr8:110617400-110632800	Weak transcription	Gastric	stomach
37	chr8:110617600-110618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:110617600-110619600	Weak transcription	Brain Angular Gyrus	brain
39	chr8:110617600-110619600	Weak transcription	Pancreas	Pancrea
40	chr8:110617800-110618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:110617800-110618600	Weak transcription	Brain Germinal Matrix	brain
42	chr8:110617800-110619000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:110617800-110620000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:110617800-110632800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:110618000-110618600	Weak transcription	Brain Anterior Caudate	brain
46	chr8:110618000-110619200	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:110618000-110619600	Weak transcription	Liver	Liver
48	chr8:110618000-110620000	Active TSS	Fetal Brain Female	brain
49	chr8:110618200-110618600	Weak transcription	HSMM	muscle
50	chr8:110618200-110619000	Flanking Active TSS	Fetal Brain Male	brain

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