Variant report

Variant	rs28576508
Chromosome Location	chr18:45694410-45694411
allele	C/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	HDAC2	chr18:45694260-45694673	HepG2	liver:	n/a	n/a
2	TCF7L2	chr18:45694318-45694580	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr18:45694392-45694622	Hela-S3	cervix:	n/a	n/a
4	NFYB	chr18:45694315-45694649	Hela-S3	cervix:	n/a	n/a
5	EP300	chr18:45694243-45694658	HepG2	liver:	n/a	n/a
6	HNF4G	chr18:45694298-45694620	HepG2	liver:	n/a	chr18:45694494-45694506 chr18:45694493-45694507 chr18:45694494-45694506 chr18:45694493-45694506 chr18:45694491-45694509 chr18:45694494-45694507 chr18:45694491-45694506
7	HNF4A	chr18:45694365-45694568	HepG2	liver:	n/a	chr18:45694494-45694506 chr18:45694493-45694507 chr18:45694494-45694506 chr18:45694493-45694506 chr18:45694491-45694509 chr18:45694494-45694507
8	ARID3A	chr18:45694265-45694580	HepG2	liver:	n/a	n/a
9	HNF4A	chr18:45694383-45694616	HepG2	liver:	n/a	chr18:45694494-45694506 chr18:45694493-45694507 chr18:45694494-45694506 chr18:45694493-45694506 chr18:45694491-45694509 chr18:45694494-45694507
10	RXRA	chr18:45694319-45694690	HepG2	liver:	n/a	chr18:45694492-45694506
11	POLR2A	chr18:45694305-45694643	Hela-S3	cervix:	n/a	n/a
12	FOXA1	chr18:45694198-45694623	HepG2	liver:	n/a	n/a
13	BHLHE40	chr18:45694382-45694642	HepG2	liver:	n/a	n/a
14	MXI1	chr18:45694347-45694586	HepG2	liver:	n/a	n/a
15	MAX	chr18:45694275-45694607	Hela-S3	cervix:	n/a	n/a
16	SP1	chr18:45694221-45694746	HepG2	liver:	n/a	n/a
17	FOXA2	chr18:45694328-45694591	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZBTB7C	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11872548	1.00[AMR][1000 genomes]
rs11875051	1.00[AMR][1000 genomes]
rs11875783	1.00[AMR][1000 genomes]
rs28465195	1.00[AMR][1000 genomes]
rs28654254	1.00[AFR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs73953632	1.00[AMR][1000 genomes]
rs73953633	1.00[AMR][1000 genomes]
rs9947712	1.00[AMR][1000 genomes]
rs9951883	1.00[AMR][1000 genomes]
rs9952992	1.00[AMR][1000 genomes]
rs9965717	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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45688400-45699200	Enhancers	Spleen	Spleen
2	chr18:45688800-45694800	Enhancers	Fetal Muscle Leg	muscle
3	chr18:45688800-45695600	Enhancers	Placenta	Placenta
4	chr18:45688800-45696600	Enhancers	Fetal Intestine Small	intestine
5	chr18:45688800-45696800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr18:45688800-45697000	Enhancers	Fetal Intestine Large	intestine
7	chr18:45688800-45697000	Enhancers	Ovary	ovary
8	chr18:45689200-45695800	Enhancers	Duodenum Mucosa	Duodenum
9	chr18:45690200-45695800	Enhancers	Hela-S3	cervix
10	chr18:45691200-45694600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:45691400-45694600	Enhancers	Fetal Muscle Trunk	muscle
12	chr18:45691400-45694600	Enhancers	Right Atrium	heart
13	chr18:45691600-45694600	Enhancers	Lung	lung
14	chr18:45692600-45694600	Enhancers	Left Ventricle	heart
15	chr18:45692600-45695400	Enhancers	Liver	Liver
16	chr18:45692600-45695600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr18:45692800-45694600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr18:45692800-45694600	Enhancers	Fetal Stomach	stomach
19	chr18:45692800-45694600	Enhancers	Right Ventricle	heart
20	chr18:45692800-45696000	Enhancers	Gastric	stomach
21	chr18:45693000-45694600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:45693000-45694600	Enhancers	Pancreas	Pancrea
23	chr18:45693000-45694600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr18:45693000-45694600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr18:45693000-45695200	Enhancers	Fetal Lung	lung
26	chr18:45693200-45694600	Enhancers	Brain Substantia Nigra	brain
27	chr18:45693400-45695400	Enhancers	Fetal Heart	heart
28	chr18:45693400-45704400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:45693600-45694600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:45693600-45694600	Enhancers	Brain Anterior Caudate	brain
31	chr18:45693600-45694800	Flanking Active TSS	Stomach Mucosa	stomach
32	chr18:45693800-45694600	Flanking Active TSS	HepG2	liver
33	chr18:45693800-45694800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr18:45693800-45695000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr18:45693800-45695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:45693800-45699800	Weak transcription	Esophagus	oesophagus
37	chr18:45694000-45694600	Enhancers	Adipose Nuclei	Adipose
38	chr18:45694000-45695200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr18:45694200-45694600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:45694200-45694600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr18:45694400-45694600	Enhancers	Fetal Kidney	kidney
42	chr18:45694400-45695600	Enhancers	Rectal Mucosa Donor 31	rectum

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