Variant report

Variant	rs11660603
Chromosome Location	chr18:9129858-9129859
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	chr18:9123369..9127442-chr18:9129820..9133797,5	MCF-7	breast:
2	chr18:9102240..9104059-chr18:9127931..9130160,2	K562	blood:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction
ENSG00000265257	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10451358	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs11081462	0.87[EUR][1000 genomes]
rs11081465	0.90[CEU][hapmap]
rs1156044	0.91[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs11661711	0.85[CHD][hapmap]
rs1396740	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1443596	0.94[CHD][hapmap];0.95[JPT][hapmap]
rs17413793	0.84[CHD][hapmap]
rs1785560	0.91[CEU][hapmap]
rs1893198	0.84[CHD][hapmap]
rs2028656	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs2276095	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4130178	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4148964	0.84[ASN][1000 genomes]
rs4148965	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4148966	0.80[ASN][1000 genomes]
rs4148967	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs4797356	0.84[CHD][hapmap]
rs4798771	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4798772	0.83[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs4798778	0.83[CHB][hapmap];0.90[CHD][hapmap]
rs4798785	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs4798786	0.84[CHD][hapmap]
rs4798789	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs4798790	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs4798791	0.84[CHD][hapmap]
rs6506644	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap]
rs6506648	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs7228251	0.84[CHD][hapmap]
rs7229883	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs7231452	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs7235514	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs7504603	0.91[CHB][hapmap]
rs7505266	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7506291	0.84[CHD][hapmap]
rs8083078	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8084822	0.91[CEU][hapmap]
rs8089693	0.84[CHD][hapmap]
rs8092135	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs8092613	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs8092878	0.91[CEU][hapmap]
rs874250	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs906807	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9652952	1.00[CEU][hapmap]
rs9945360	0.84[CHD][hapmap]
rs9946695	0.84[CHD][hapmap]
rs9947027	0.83[CHB][hapmap]
rs9960129	0.84[CHD][hapmap]
rs998171	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
5	chr18:9114000-9130800	Weak transcription	Ovary	ovary
6	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:9115800-9134800	Strong transcription	Dnd41	blood
8	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
9	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9117400-9132000	Strong transcription	Fetal Intestine Large	intestine
11	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
13	chr18:9117400-9135800	Weak transcription	Gastric	stomach
14	chr18:9117600-9134800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
16	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
17	chr18:9117800-9132600	Weak transcription	Aorta	Aorta
18	chr18:9117800-9135000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
21	chr18:9118200-9134400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr18:9118200-9135000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:9118400-9134400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr18:9118600-9134600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr18:9118600-9135000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr18:9118800-9134400	Strong transcription	K562	blood
27	chr18:9118800-9135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:9118800-9135600	Weak transcription	Right Ventricle	heart
29	chr18:9119000-9132600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr18:9119200-9131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr18:9119200-9134400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr18:9119400-9135200	Weak transcription	Stomach Mucosa	stomach
33	chr18:9119600-9132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr18:9119800-9135000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr18:9119800-9135400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:9120000-9134800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:9121200-9132600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:9121200-9133200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr18:9121200-9135200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr18:9121200-9135200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr18:9121400-9134800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:9121800-9130400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:9121800-9134800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr18:9122400-9134600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:9122600-9130400	Strong transcription	NH-A	brain
46	chr18:9122800-9134800	Strong transcription	NHDF-Ad	bronchial
47	chr18:9123000-9132800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr18:9123200-9130000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:9123400-9130800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:9123400-9131200	Strong transcription	A549	lung

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