Variant report

Variant	rs62086597
Chromosome Location	chr18:8797600-8797601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr18:8797123-8797694	HUVEC	blood vessel:	n/a	n/a
2	MYBL2	chr18:8797218-8797647	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:8797010-8797725	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:8692528..8694310-chr18:8796445..8798847,2	K562	blood:
2	chr18:8783861..8785819-chr18:8796823..8798511,2	K562	blood:
3	chr18:8795857..8797990-chr18:8804002..8806019,2	MCF-7	breast:
4	chr18:8797148..8799004-chr18:8799716..8804219,5	K562	blood:
5	chr18:8795570..8798647-chr18:8802817..8804513,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272788	TF binding region
SOGA2	TF binding region
ENSG00000168502	Chromatin interaction
ENSG00000272788	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10432143	1.00[AFR][1000 genomes]
rs11081410	1.00[AFR][1000 genomes]
rs12956773	1.00[AFR][1000 genomes]
rs16954398	1.00[AFR][1000 genomes]
rs56848389	1.00[EUR][1000 genomes]
rs62086587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086591	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8783000-8799600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:8785600-8800000	Weak transcription	Esophagus	oesophagus
3	chr18:8786600-8800000	Weak transcription	Ovary	ovary
4	chr18:8787000-8822200	Weak transcription	Primary B cells from cord blood	blood
5	chr18:8787600-8800200	Weak transcription	Aorta	Aorta
6	chr18:8788400-8799200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:8789400-8798200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:8789400-8799200	Weak transcription	Psoas Muscle	Psoas
9	chr18:8789400-8801000	Weak transcription	Left Ventricle	heart
10	chr18:8789400-8829800	Weak transcription	Brain Anterior Caudate	brain
11	chr18:8789600-8799000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr18:8789600-8800200	Weak transcription	Right Ventricle	heart
13	chr18:8790400-8800200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:8791600-8823800	Weak transcription	Right Atrium	heart
15	chr18:8792600-8797600	Enhancers	Fetal Intestine Small	intestine
16	chr18:8793200-8803000	Enhancers	Stomach Mucosa	stomach
17	chr18:8793600-8797600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:8793600-8807600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr18:8794000-8798000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:8794200-8799400	Weak transcription	Fetal Heart	heart
21	chr18:8794200-8800600	Weak transcription	Fetal Kidney	kidney
22	chr18:8794400-8797800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr18:8794600-8797800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:8794600-8799000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:8794600-8799400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr18:8794600-8800000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:8795200-8798200	Enhancers	HepG2	liver
28	chr18:8795200-8799000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:8795200-8799200	Genic enhancers	A549	lung
30	chr18:8795200-8800000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:8795400-8798000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr18:8795400-8798200	Strong transcription	Fetal Stomach	stomach
33	chr18:8795400-8800000	Weak transcription	Colonic Mucosa	Colon
34	chr18:8795600-8798200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:8795600-8798400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:8795600-8799400	Strong transcription	Brain Germinal Matrix	brain
37	chr18:8795800-8800200	Genic enhancers	HMEC	breast
38	chr18:8796000-8797600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
39	chr18:8796000-8798000	Genic enhancers	NH-A	brain
40	chr18:8796200-8798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:8796200-8799800	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr18:8796200-8800200	Genic enhancers	NHLF	lung
43	chr18:8796400-8797600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:8796400-8797800	Genic enhancers	Osteobl	bone
45	chr18:8796400-8798000	Weak transcription	Placenta	Placenta
46	chr18:8796400-8798000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:8796400-8799800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:8796400-8799800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr18:8796400-8800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr18:8796400-8800000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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