Variant report

Variant	rs527564503
Chromosome Location	chr8:110602479-110602480
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:110602200-110602547	H1-neurons	neurons:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110599959..110602833-chr8:110655392..110657661,3	MCF-7	breast:
2	chr8:110601011..110602738-chr8:110605572..110607359,2	K562	blood:
3	chr8:110599166..110601638-chr8:110601697..110603770,2	MCF-7	breast:
4	chr8:110599717..110603274-chr8:110604163..110606425,3	MCF-7	breast:
5	chr8:110601515..110604234-chr8:110611916..110615052,3	MCF-7	breast:
6	chr8:110588326..110591138-chr8:110601427..110604344,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv519645	chr8:110602317-110613000	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110587800-110605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:110590000-110605600	Weak transcription	K562	blood
4	chr8:110590200-110654800	Weak transcription	Lung	lung
5	chr8:110591600-110609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:110592200-110604600	Weak transcription	Gastric	stomach
7	chr8:110594800-110606000	Weak transcription	Fetal Brain Male	brain
8	chr8:110596800-110608400	Enhancers	Fetal Intestine Large	intestine
9	chr8:110597800-110608400	Enhancers	Fetal Intestine Small	intestine
10	chr8:110598400-110602800	Enhancers	Liver	Liver
11	chr8:110598400-110605800	Weak transcription	Fetal Brain Female	brain
12	chr8:110598400-110607800	Weak transcription	Esophagus	oesophagus
13	chr8:110598600-110603600	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:110598800-110605400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:110598800-110615000	Weak transcription	Ovary	ovary
16	chr8:110599400-110603200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:110599800-110603400	Enhancers	Hela-S3	cervix
18	chr8:110600000-110603200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:110600000-110605000	Weak transcription	Colonic Mucosa	Colon
20	chr8:110600200-110604600	Weak transcription	Pancreas	Pancrea
21	chr8:110600600-110602600	Enhancers	HUVEC	blood vessel
22	chr8:110601000-110602800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:110601000-110604400	Weak transcription	Small Intestine	intestine
24	chr8:110601000-110605200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:110601200-110602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:110601200-110602600	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:110601400-110602600	Enhancers	Adipose Nuclei	Adipose
28	chr8:110601400-110602600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:110601400-110603200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:110601400-110603400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:110601400-110603600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr8:110601600-110602600	Enhancers	Brain Anterior Caudate	brain
33	chr8:110601600-110602600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr8:110601600-110602600	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:110601600-110602800	Enhancers	Right Atrium	heart
36	chr8:110601800-110604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:110601800-110606000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:110601800-110606600	Enhancers	Stomach Mucosa	stomach
39	chr8:110601800-110606800	Weak transcription	Left Ventricle	heart
40	chr8:110601800-110612600	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:110602000-110605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:110602000-110605800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:110602200-110603400	Enhancers	A549	lung
44	chr8:110602200-110605400	Weak transcription	HMEC	breast
45	chr8:110602200-110605600	Weak transcription	NHEK	skin
46	chr8:110602200-110605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:110602200-110606000	Weak transcription	NHDF-Ad	bronchial
48	chr8:110602400-110602600	Enhancers	Fetal Muscle Leg	muscle
49	chr8:110602400-110604200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:110602400-110604200	Weak transcription	HepG2	liver

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