Variant report

Variant	rs3132835
Chromosome Location	chr18:13506046-13506047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:13505957-13506048	Pancreas_OC	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13504939..13506992-chr18:13515304..13518121,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267366	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10163734	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs12458741	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs12604898	0.87[CHB][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12607174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12955640	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1559861	0.82[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1559862	0.82[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1559865	0.81[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1648584	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1648585	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1648586	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1648587	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1648588	0.80[CEU][hapmap]
rs1648593	0.80[ASN][1000 genomes]
rs1648597	0.82[EUR][1000 genomes]
rs1648598	0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs1648599	0.81[CEU][hapmap]
rs1648601	0.81[EUR][1000 genomes]
rs1785151	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1785152	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1785181	0.81[CEU][hapmap]
rs1785205	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1812468	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1940914	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940915	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940921	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2027682	0.80[ASN][1000 genomes]
rs2027683	0.84[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.80[ASN][1000 genomes]
rs2116221	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2163445	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2567170	0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs28415200	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847114	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28553871	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28767549	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097642	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3097643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132836	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3859302	0.80[ASN][1000 genomes]
rs4121593	0.91[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4121594	0.90[CEU][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4796988	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505818	0.80[ASN][1000 genomes]
rs6505819	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs6505820	0.80[ASN][1000 genomes]
rs6505821	0.81[MEX][hapmap]
rs6505822	0.81[MEX][hapmap]
rs7227383	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs7229109	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230189	0.87[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.80[ASN][1000 genomes]
rs7233826	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234676	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7239669	0.88[JPT][hapmap]
rs7240391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240795	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240858	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241010	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs7241766	0.84[CHD][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.80[ASN][1000 genomes]
rs7505922	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088361	0.80[ASN][1000 genomes]
rs8091197	0.80[ASN][1000 genomes]
rs8091352	0.84[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.80[ASN][1000 genomes]
rs8092166	0.80[ASN][1000 genomes]
rs9952307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9955173	0.86[CEU][hapmap]
rs9958211	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9958308	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9958406	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9958516	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9958760	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9965287	0.81[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13471000-13537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:13499600-13539200	Weak transcription	Gastric	stomach
3	chr18:13499800-13514200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr18:13499800-13531000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:13500000-13516800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr18:13500400-13517400	Weak transcription	Spleen	Spleen
7	chr18:13501400-13518200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:13501600-13525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:13501800-13530600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:13502600-13507000	Genic enhancers	Thymus	Thymus
11	chr18:13502800-13525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr18:13503000-13517000	Weak transcription	Adipose Nuclei	Adipose
13	chr18:13503000-13519200	Weak transcription	Pancreas	Pancrea
14	chr18:13503200-13506600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:13503200-13508000	Weak transcription	Fetal Stomach	stomach
16	chr18:13503200-13511800	Weak transcription	Brain Anterior Caudate	brain
17	chr18:13503200-13514600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr18:13503200-13517200	Weak transcription	Fetal Lung	lung
19	chr18:13503200-13521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr18:13503400-13511600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:13503400-13512200	Weak transcription	Liver	Liver
22	chr18:13503400-13517400	Weak transcription	Aorta	Aorta
23	chr18:13503800-13508200	Weak transcription	Fetal Brain Female	brain
24	chr18:13503800-13512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:13504200-13509000	Weak transcription	Left Ventricle	heart
26	chr18:13504800-13506400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr18:13505000-13508200	Weak transcription	Psoas Muscle	Psoas
28	chr18:13505000-13509000	Weak transcription	Right Atrium	heart
29	chr18:13505000-13536000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr18:13505200-13506600	Weak transcription	Fetal Heart	heart
31	chr18:13505200-13506800	Enhancers	Primary T cells from cord blood	blood
32	chr18:13505200-13507600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:13505200-13511200	Strong transcription	Dnd41	blood
34	chr18:13505400-13507600	Enhancers	Fetal Thymus	thymus
35	chr18:13505600-13506400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr18:13505600-13506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:13505800-13506200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr18:13505800-13506200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:13505800-13506800	Enhancers	Primary B cells from peripheral blood	blood
40	chr18:13505800-13506800	Enhancers	Primary hematopoietic stem cells	blood
41	chr18:13505800-13507000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr18:13505800-13507000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr18:13505800-13507000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr18:13505800-13507000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:13506000-13506400	Enhancers	Primary B cells from cord blood	blood
46	chr18:13506000-13506600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr18:13506000-13506600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr18:13506000-13507000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:13506000-13507000	Enhancers	Fetal Muscle Leg	muscle
50	chr18:13506000-13515600	Enhancers	Skeletal Muscle Female	skeletal muscle

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