Variant report

Variant	rs8093731
Chromosome Location	chr18:29088958-29088959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29077877..29084482-chr18:29088955..29095937,13	K562	blood:

Variant related genes	Relation type
ENSG00000046604	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10502571	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12326068	1.00[CHB][hapmap]
rs16961975	1.00[CEU][hapmap]
rs2276150	0.85[CHD][hapmap]
rs2704054	1.00[ASN][1000 genomes]
rs56848605	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047618	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59665004	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59698374	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229430	1.00[CEU][hapmap]
rs73414289	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416205	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084771	0.85[CHD][hapmap]
rs9304098	0.81[YRI][hapmap]
rs9304101	1.00[CHB][hapmap]
rs9947401	0.85[CHD][hapmap]

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29080400-29091000	Weak transcription	Colonic Mucosa	Colon
2	chr18:29080600-29089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:29080600-29093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:29080600-29100000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr18:29080600-29100400	Weak transcription	Fetal Thymus	thymus
6	chr18:29080800-29092400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:29081000-29091400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:29081600-29092000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:29081600-29092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr18:29081600-29092200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:29081600-29093200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:29081800-29092200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr18:29083400-29092600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:29084000-29090600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:29084800-29091000	Weak transcription	Left Ventricle	heart
16	chr18:29084800-29093600	Weak transcription	Gastric	stomach
17	chr18:29085200-29090600	Weak transcription	Fetal Intestine Small	intestine
18	chr18:29085200-29091000	Weak transcription	Right Atrium	heart
19	chr18:29085400-29089600	Weak transcription	Stomach Mucosa	stomach
20	chr18:29085400-29090800	Weak transcription	Pancreas	Pancrea
21	chr18:29085400-29090800	Weak transcription	K562	blood
22	chr18:29086200-29089600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr18:29086200-29089600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr18:29086400-29090800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr18:29086400-29091600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:29086600-29090000	Weak transcription	Fetal Intestine Large	intestine
27	chr18:29087200-29096200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:29088000-29094200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:29088400-29093200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:29088600-29089200	Enhancers	Fetal Heart	heart
31	chr18:29088600-29089200	Enhancers	Hela-S3	cervix
32	chr18:29088600-29092000	Enhancers	GM12878-XiMat	blood
33	chr18:29088600-29093200	Enhancers	NHEK	skin
34	chr18:29088600-29093400	Enhancers	HMEC	breast
35	chr18:29088600-29094400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr18:29088600-29094400	Enhancers	HepG2	liver
37	chr18:29088600-29094600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:29088600-29095000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr18:29088800-29089000	Enhancers	NH-A	brain
40	chr18:29088800-29091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr18:29088800-29092800	Enhancers	A549	lung

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