Variant report

Variant	rs58800301
Chromosome Location	chr18:9600815-9600816
allele	A/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:5)
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	CBX3	chr18:9600131-9600847	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:9574087..9576896-chr18:9600490..9602058,2	K562	blood:
2	chr18:9593285..9595195-chr18:9598496..9600998,2	K562	blood:
3	chr18:9584735..9586577-chr18:9599877..9602634,2	K562	blood:
4	chr18:9573898..9575587-chr18:9599993..9601990,2	K562	blood:
5	chr18:9580227..9582159-chr18:9599784..9602426,2	K562	blood:

No data

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1036930	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11081487	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12327541	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16955297	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869737	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869738	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1869739	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028657	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2840354	0.86[ASN][1000 genomes]
rs55841197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56883068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57539299	0.86[ASN][1000 genomes]
rs58982927	0.86[ASN][1000 genomes]
rs60290408	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61275183	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62087456	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088860	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088870	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088873	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088875	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088876	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088880	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088881	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088904	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088908	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6506677	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7228280	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7231531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7233649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234355	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7235935	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236274	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237018	0.86[ASN][1000 genomes]
rs7238137	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7239083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945737	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732698	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096551	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 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	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9581400-9609200	Weak transcription	Pancreas	Pancrea
4	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:9589000-9608800	Weak transcription	Thymus	Thymus
6	chr18:9589000-9609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:9589000-9611000	Weak transcription	Lung	lung
8	chr18:9594200-9609200	Weak transcription	Aorta	Aorta
9	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:9595200-9612000	Weak transcription	Esophagus	oesophagus
11	chr18:9595400-9601800	Weak transcription	Fetal Heart	heart
12	chr18:9595400-9608800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr18:9596000-9605800	Weak transcription	Hela-S3	cervix
14	chr18:9596000-9611000	Weak transcription	Gastric	stomach
15	chr18:9597000-9601400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:9597000-9603200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:9597000-9608800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:9597200-9604200	Weak transcription	Left Ventricle	heart
19	chr18:9597200-9611000	Weak transcription	NH-A	brain
20	chr18:9597400-9604600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:9597400-9608000	Weak transcription	Osteobl	bone
22	chr18:9597400-9609200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:9597400-9613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr18:9597600-9606000	Weak transcription	HUVEC	blood vessel
25	chr18:9597600-9609200	Weak transcription	Ovary	ovary
26	chr18:9597800-9603400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:9598000-9601200	ZNF genes & repeats	Dnd41	blood
28	chr18:9598000-9604400	Weak transcription	HMEC	breast
29	chr18:9598000-9612600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr18:9598600-9601400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr18:9598800-9602200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr18:9599200-9601000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:9599400-9601000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr18:9599400-9601000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr18:9599400-9601200	ZNF genes & repeats	K562	blood
36	chr18:9599600-9601600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:9599600-9602000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:9600000-9601200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:9600000-9601200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:9600000-9601400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
41	chr18:9600200-9601400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr18:9600200-9604600	Weak transcription	HepG2	liver
43	chr18:9600200-9609400	Weak transcription	HSMM	muscle
44	chr18:9600400-9601000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:9600400-9601600	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr18:9600400-9601800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:9600400-9601800	ZNF genes & repeats	Fetal Stomach	stomach
48	chr18:9600400-9602000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:9600600-9601000	ZNF genes & repeats	Stomach Mucosa	stomach
50	chr18:9600600-9601200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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