Variant report

Variant	rs9966603
Chromosome Location	chr18:43637243-43637244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43635870..43638694-chr18:43652071..43654069,3	K562	blood:
2	chr18:43635870..43638694-chr18:43652071..43653572,2	K562	blood:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11876373	0.90[ASN][1000 genomes]
rs12607480	0.86[CHB][hapmap]
rs12953780	0.85[JPT][hapmap]
rs12963169	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1791407	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1791413	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1791414	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1866322	0.88[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2578187	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2578189	0.82[CHB][hapmap]
rs28372325	0.90[ASN][1000 genomes]
rs28524126	0.88[ASN][1000 genomes]
rs28689081	0.95[ASN][1000 genomes]
rs35657986	0.90[ASN][1000 genomes]
rs3744992	0.86[CHB][hapmap]
rs4243278	0.86[CHB][hapmap]
rs4274509	0.82[JPT][hapmap]
rs4550555	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4890312	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs4890313	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4890314	0.92[ASN][1000 genomes]
rs4890616	0.88[ASN][1000 genomes]
rs4890617	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs4890618	0.88[CEU][hapmap];0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs4890619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4890620	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs58397883	0.99[ASN][1000 genomes]
rs60986007	0.90[ASN][1000 genomes]
rs6507663	0.81[ASN][1000 genomes]
rs6507675	0.82[JPT][hapmap]
rs6507679	0.81[JPT][hapmap]
rs7226742	0.88[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.97[ASN][1000 genomes]
rs7227301	1.00[ASN][1000 genomes]
rs8083916	0.82[CHB][hapmap]
rs8085233	0.88[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs8096256	0.88[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.95[ASN][1000 genomes]
rs9946543	0.99[ASN][1000 genomes]
rs9946831	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs9950343	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs9952157	0.91[ASN][1000 genomes]
rs9954534	0.88[ASN][1000 genomes]
rs9956803	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9957804	0.88[ASN][1000 genomes]
rs9958257	0.89[ASN][1000 genomes]
rs9961163	0.95[ASN][1000 genomes]
rs9964180	0.95[ASN][1000 genomes]
rs9965365	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs9967229	0.81[JPT][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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43632200-43640400	Weak transcription	Fetal Intestine Small	intestine
3	chr18:43632400-43638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:43632400-43642000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:43632400-43642200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:43632400-43651200	Weak transcription	Pancreas	Pancrea
7	chr18:43632600-43641800	Weak transcription	NHEK	skin
8	chr18:43633000-43640400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:43633200-43651200	Weak transcription	HSMMtube	muscle
10	chr18:43633400-43650200	Weak transcription	NHLF	lung
11	chr18:43633600-43640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:43633800-43647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:43634600-43637600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr18:43636200-43640400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr18:43636200-43640800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:43636200-43641400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:43636200-43644000	Weak transcription	Osteobl	bone
18	chr18:43636400-43637400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr18:43636400-43637400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:43636400-43637400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:43636400-43637400	Enhancers	Dnd41	blood
22	chr18:43636400-43639000	Weak transcription	K562	blood
23	chr18:43636400-43640400	Weak transcription	Spleen	Spleen
24	chr18:43636400-43640400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr18:43636400-43643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:43636400-43644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:43636400-43647000	Weak transcription	Liver	Liver
28	chr18:43636400-43649200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr18:43636400-43650200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:43636600-43640400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr18:43636600-43641400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:43636600-43642000	Weak transcription	GM12878-XiMat	blood
33	chr18:43636600-43642400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr18:43636600-43649600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:43637000-43650000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:43637200-43640400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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