Variant report

Variant	rs2851916
Chromosome Location	chr18:12041464-12041465
allele	C/T
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	RCOR1	chr18:12041090-12042162	IMR90	lung:	n/a	n/a
2	MYC	chr18:12041381-12041863	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000266995	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1036903	0.92[ASN][1000 genomes]
rs1036904	0.91[ASN][1000 genomes]
rs11872277	0.84[ASN][1000 genomes]
rs11875081	0.84[ASN][1000 genomes]
rs11875970	0.84[ASN][1000 genomes]
rs11876652	0.84[ASN][1000 genomes]
rs11876694	0.84[ASN][1000 genomes]
rs11876698	0.84[ASN][1000 genomes]
rs1250171	0.83[ASN][1000 genomes]
rs12953431	0.84[ASN][1000 genomes]
rs12953485	0.84[ASN][1000 genomes]
rs12953958	0.84[ASN][1000 genomes]
rs12954230	0.84[ASN][1000 genomes]
rs12963290	0.84[ASN][1000 genomes]
rs12965804	0.84[ASN][1000 genomes]
rs12965831	0.84[ASN][1000 genomes]
rs12965945	0.84[ASN][1000 genomes]
rs12966234	0.80[ASN][1000 genomes]
rs12966286	0.84[ASN][1000 genomes]
rs12970450	0.84[ASN][1000 genomes]
rs12970461	0.84[ASN][1000 genomes]
rs1530368	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1662607	0.92[ASN][1000 genomes]
rs1662612	0.92[ASN][1000 genomes]
rs1662613	0.91[ASN][1000 genomes]
rs1942851	0.85[ASN][1000 genomes]
rs1942852	0.85[ASN][1000 genomes]
rs1964436	0.92[ASN][1000 genomes]
rs2006690	0.82[ASN][1000 genomes]
rs2075826	0.84[ASN][1000 genomes]
rs2849393	0.86[ASN][1000 genomes]
rs2849401	0.84[ASN][1000 genomes]
rs2849402	0.84[ASN][1000 genomes]
rs2849404	0.85[ASN][1000 genomes]
rs2849405	0.85[ASN][1000 genomes]
rs2849414	0.83[ASN][1000 genomes]
rs2849415	0.84[ASN][1000 genomes]
rs2849416	0.85[ASN][1000 genomes]
rs2849418	0.82[ASN][1000 genomes]
rs2849420	0.86[ASN][1000 genomes]
rs2851900	0.85[ASN][1000 genomes]
rs2851901	0.86[ASN][1000 genomes]
rs2851902	0.86[ASN][1000 genomes]
rs2851903	0.85[ASN][1000 genomes]
rs2851906	0.85[ASN][1000 genomes]
rs2851915	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851928	0.88[ASN][1000 genomes]
rs2851930	0.82[ASN][1000 genomes]
rs28567958	0.84[ASN][1000 genomes]
rs4321255	0.85[ASN][1000 genomes]
rs4359510	0.85[ASN][1000 genomes]
rs4399596	0.85[ASN][1000 genomes]
rs4399597	0.85[ASN][1000 genomes]
rs4516292	0.84[ASN][1000 genomes]
rs4617931	0.84[ASN][1000 genomes]
rs4643402	0.84[ASN][1000 genomes]
rs4796944	0.84[ASN][1000 genomes]
rs4797612	0.84[ASN][1000 genomes]
rs4797613	0.81[ASN][1000 genomes]
rs4797615	0.83[ASN][1000 genomes]
rs4797616	0.84[ASN][1000 genomes]
rs4797617	0.84[ASN][1000 genomes]
rs4797618	0.84[ASN][1000 genomes]
rs56076781	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57005257	0.84[AFR][1000 genomes]
rs57512036	0.84[ASN][1000 genomes]
rs583965	0.82[ASN][1000 genomes]
rs594235	0.91[ASN][1000 genomes]
rs596081	0.90[ASN][1000 genomes]
rs596142	0.91[ASN][1000 genomes]
rs597072	0.91[ASN][1000 genomes]
rs597094	0.91[ASN][1000 genomes]
rs597147	0.91[ASN][1000 genomes]
rs597965	0.91[ASN][1000 genomes]
rs597973	0.91[ASN][1000 genomes]
rs598005	0.88[ASN][1000 genomes]
rs609104	0.91[ASN][1000 genomes]
rs609588	0.91[ASN][1000 genomes]
rs613993	0.87[ASN][1000 genomes]
rs627448	0.88[ASN][1000 genomes]
rs627492	0.87[ASN][1000 genomes]
rs640088	0.91[ASN][1000 genomes]
rs6505710	0.84[ASN][1000 genomes]
rs655840	0.90[ASN][1000 genomes]
rs656193	0.90[ASN][1000 genomes]
rs674758	0.81[ASN][1000 genomes]
rs687869	0.91[ASN][1000 genomes]
rs7230733	0.84[ASN][1000 genomes]
rs7231001	0.84[ASN][1000 genomes]
rs7231981	0.84[ASN][1000 genomes]
rs7236715	0.84[ASN][1000 genomes]
rs7237502	0.82[ASN][1000 genomes]
rs7237877	0.84[ASN][1000 genomes]
rs7242326	0.81[ASN][1000 genomes]
rs7242561	0.84[ASN][1000 genomes]
rs7242892	0.84[ASN][1000 genomes]
rs727746	0.83[ASN][1000 genomes]
rs7506731	0.80[ASN][1000 genomes]
rs8083240	0.84[ASN][1000 genomes]
rs8099334	0.84[ASN][1000 genomes]
rs948752	0.85[ASN][1000 genomes]
rs949229	0.85[ASN][1000 genomes]
rs949230	0.82[ASN][1000 genomes]
rs949231	0.84[ASN][1000 genomes]
rs949232	0.84[ASN][1000 genomes]
rs949233	0.84[ASN][1000 genomes]
rs9952038	0.84[ASN][1000 genomes]
rs9959517	0.84[ASN][1000 genomes]
rs9959561	0.84[ASN][1000 genomes]
rs9959774	0.84[ASN][1000 genomes]
rs9959781	0.84[ASN][1000 genomes]
rs9960429	0.81[ASN][1000 genomes]
rs9960443	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv978603	chr18:12039958-12046831	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12039400-12042600	Weak transcription	GM12878-XiMat	blood
2	chr18:12039400-12044800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:12039400-12045800	Weak transcription	Pancreas	Pancrea
4	chr18:12039400-12047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:12039400-12047400	Weak transcription	Gastric	stomach
6	chr18:12039400-12048400	Weak transcription	Right Ventricle	heart
7	chr18:12040800-12041600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:12041000-12041600	Enhancers	HSMM	muscle
9	chr18:12041000-12042400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:12041000-12042400	Enhancers	NHDF-Ad	bronchial
11	chr18:12041000-12042400	Enhancers	Osteobl	bone
12	chr18:12041000-12042600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:12041000-12042800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:12041000-12042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:12041200-12042000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:12041200-12042000	Enhancers	HSMMtube	muscle
17	chr18:12041200-12042000	Enhancers	NH-A	brain
18	chr18:12041200-12042200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:12041200-12042200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:12041200-12042200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:12041200-12042400	Enhancers	HMEC	breast
22	chr18:12041200-12042600	Enhancers	A549	lung
23	chr18:12041200-12042600	Enhancers	NHLF	lung
24	chr18:12041400-12041600	Enhancers	Hela-S3	cervix
25	chr18:12041400-12042000	Enhancers	NHEK	skin
26	chr18:12041400-12042400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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