Variant report

Variant	rs59665004
Chromosome Location	chr18:29082231-29082232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29062053..29064443-chr18:29081495..29083582,3	K562	blood:
2	chr18:29080297..29083464-chr18:29083547..29086345,4	K562	blood:
3	chr18:29077157..29080262-chr18:29081706..29084884,3	K562	blood:
4	chr18:29082210..29085319-chr18:29089707..29093199,4	K562	blood:
5	chr18:29079215..29080950-chr18:29081744..29084257,2	MCF-7	breast:
6	chr18:29079737..29082965-chr18:29084557..29087491,4	K562	blood:

Variant related genes	Relation type
ENSG00000266521	Chromatin interaction
ENSG00000046604	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10502571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2704054	1.00[ASN][1000 genomes]
rs56848605	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047618	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59698374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414289	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416205	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093731	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29080400-29085800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:29080400-29091000	Weak transcription	Colonic Mucosa	Colon
3	chr18:29080600-29082800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:29080600-29083000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:29080600-29083200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr18:29080600-29084000	Weak transcription	K562	blood
7	chr18:29080600-29084400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr18:29080600-29084600	Weak transcription	Right Atrium	heart
9	chr18:29080600-29084600	Weak transcription	Right Ventricle	heart
10	chr18:29080600-29088400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:29080600-29088600	Weak transcription	HMEC	breast
12	chr18:29080600-29088800	Weak transcription	A549	lung
13	chr18:29080600-29089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:29080600-29093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:29080600-29100000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr18:29080600-29100400	Weak transcription	Fetal Thymus	thymus
17	chr18:29080800-29084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:29080800-29084200	Weak transcription	Fetal Heart	heart
19	chr18:29080800-29084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:29080800-29084600	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29080800-29084600	Weak transcription	Gastric	stomach
22	chr18:29080800-29088600	Weak transcription	Hela-S3	cervix
23	chr18:29080800-29092400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr18:29081000-29091400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:29081600-29084600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:29081600-29084600	Weak transcription	Stomach Mucosa	stomach
27	chr18:29081600-29092000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:29081600-29092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:29081600-29092200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:29081600-29093200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:29081800-29082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:29081800-29083400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr18:29081800-29083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:29081800-29084000	Weak transcription	Pancreas	Pancrea
35	chr18:29081800-29084400	Weak transcription	Fetal Intestine Small	intestine
36	chr18:29081800-29084400	Weak transcription	NHEK	skin
37	chr18:29081800-29088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:29081800-29088600	Weak transcription	HepG2	liver
39	chr18:29081800-29092200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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