Variant report

Variant	rs2851915
Chromosome Location	chr18:12041694-12041695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr18:12041564-12041955	IMR90	lung:	n/a	n/a
2	CEBPB	chr18:12041488-12041922	IMR90	lung:	n/a	n/a
3	FOS	chr18:12041521-12041918	HUVEC	blood vessel:	n/a	chr18:12041721-12041732
4	E2F4	chr18:12041553-12041954	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr18:12041595-12041837	A549	lung:	n/a	n/a
6	FOSL2	chr18:12041489-12041983	A549	lung:	n/a	n/a
7	FOSL2	chr18:12041488-12041944	SK-N-SH	brain:	n/a	n/a
8	RCOR1	chr18:12041090-12042162	IMR90	lung:	n/a	n/a
9	FOS	chr18:12041561-12041978	MCF10A-Er-Src	breast:	n/a	chr18:12041721-12041732
10	IKZF1	chr18:12041563-12041955	GM12878	blood:	n/a	n/a
11	FOS	chr18:12041548-12041964	MCF10A-Er-Src	breast:	n/a	chr18:12041721-12041732
12	STAT3	chr18:12041526-12042080	MCF10A-Er-Src	breast:	n/a	chr18:12041795-12041806
13	STAT3	chr18:12041555-12042036	MCF10A-Er-Src	breast:	n/a	chr18:12041795-12041806
14	MYC	chr18:12041381-12041863	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr18:12041613-12041971	MCF10A-Er-Src	breast:	n/a	chr18:12041795-12041806
16	CEBPB	chr18:12041661-12041872	A549	lung:	n/a	n/a
17	POLR2A	chr18:12041470-12041976	U87	brain:	n/a	n/a
18	FOS	chr18:12041553-12041963	MCF10A-Er-Src	breast:	n/a	chr18:12041721-12041732
19	STAT3	chr18:12041555-12042016	MCF10A-Er-Src	breast:	n/a	chr18:12041795-12041806
20	MYC	chr18:12041575-12041822	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr18:12041550-12041923	MCF10A-Er-Src	breast:	n/a	chr18:12041721-12041732

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12041672-12041722	HCPEpiC	choroid plexus:	n/a
2	chr18:12041672-12041722	HNPCEpiC	eye:	n/a
3	chr18:12041672-12041722	RPTEC	kidney:	n/a
4	chr18:12041672-12041722	AoSMC	blood vessel:	n/a
5	chr18:12041672-12041722	GM06990	blood:	n/a
6	chr18:12041672-12041722	PANC-1	pancreas:	n/a
7	chr18:12041672-12041722	PFSK-1	brain:	n/a
8	chr18:12041672-12041722	CMK	blood:	n/a
9	chr18:12041672-12041722	ovcar-3	ovarian:	n/a
10	chr18:12041672-12041722	SK-N-SH_RA	brain:	n/a
11	chr18:12041672-12041722	HL-60	blood:	n/a
12	chr18:12041672-12041722	NH-A	brain:	n/a
13	chr18:12041672-12041722	H1-hESC	embryonic stem cell:	embryo
14	chr18:12041672-12041722	AG09309	skin:	n/a
15	chr18:12041672-12041722	NHDF-neo	bronchial:	n/a
16	chr18:12041672-12041722	AG10803	skin:	n/a
17	chr18:12041672-12041722	Hela-S3	cervix:	n/a
18	chr18:12041672-12041722	T-47D	breast:	n/a
19	chr18:12041672-12041722	BE2_C	brain:	n/a
20	chr18:12041672-12041722	HIPEpiC	eye:	n/a
21	chr18:12041672-12041722	HPAEpiC	pulmonary alveolar:	n/a
22	chr18:12041672-12041722	BJ	skin:	n/a
23	chr18:12041672-12041722	GM12878	blood:	n/a
24	chr18:12041672-12041722	HRE	kidney:	n/a
25	chr18:12041672-12041722	SK-N-SH	brain:	n/a
26	chr18:12041672-12041722	HEEpiC	esophagus:	n/a
27	chr18:12041672-12041722	AG04450	lung:	fetal
28	chr18:12041672-12041722	SKMC	muscle:	n/a
29	chr18:12041672-12041722	HCF	heart:	n/a
30	chr18:12041672-12041722	K562	blood:	n/a
31	chr18:12041672-12041722	LNCaP	prostate:	n/a
32	chr18:12041672-12041722	HRCEpiC	kidney:	n/a
33	chr18:12041672-12041722	SK-N-MC	brain:	n/a
34	chr18:12041672-12041722	NT2-D1	testis:	n/a
35	chr18:12041672-12041722	ECC-1	luminal epithelium:	n/a
36	chr18:12041672-12041722	GM12891	blood:	n/a
37	chr18:12041672-12041722	GM19239	blood:	n/a
38	chr18:12041672-12041722	HEK293	kidney:	embryo
39	chr18:12041672-12041722	U87	brain:	n/a
40	chr18:12041672-12041722	AG04449	skin:	fetal
41	chr18:12041672-12041722	HCT-116	colon:	n/a
42	chr18:12041672-12041722	A549	lung:	n/a
43	chr18:12041672-12041722	MCF-7	breast:	n/a
44	chr18:12041672-12041722	NHBE	bronchial:	n/a
45	chr18:12041672-12041722	ProgFib	skin:	n/a
46	chr18:12041672-12041722	Caco-2	colon:	n/a
47	chr18:12041672-12041722	HUVEC	blood vessel:	n/a
48	chr18:12041672-12041722	MCF10A-Er-Src	breast:	n/a
49	chr18:12041672-12041722	HAEpiC	amniotic membrane:	n/a
50	chr18:12041672-12041722	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12035639..12037274-chr18:12041657..12044195,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266995	TF binding region
ENSG00000266995	CpG island

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1036903	0.89[ASN][1000 genomes]
rs1036904	0.88[ASN][1000 genomes]
rs11872277	0.81[ASN][1000 genomes]
rs11875081	0.81[ASN][1000 genomes]
rs11875970	0.81[ASN][1000 genomes]
rs11876652	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11876694	0.81[ASN][1000 genomes]
rs11876698	0.81[ASN][1000 genomes]
rs1250171	1.00[ASW][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12953431	0.81[ASN][1000 genomes]
rs12953485	0.81[ASN][1000 genomes]
rs12953958	0.81[ASN][1000 genomes]
rs12954230	0.81[ASN][1000 genomes]
rs12963290	0.81[ASN][1000 genomes]
rs12965804	0.81[ASN][1000 genomes]
rs12965831	0.81[ASN][1000 genomes]
rs12965945	0.81[ASN][1000 genomes]
rs12966286	0.81[ASN][1000 genomes]
rs12970450	0.81[ASN][1000 genomes]
rs12970461	0.81[ASN][1000 genomes]
rs1530368	0.91[ASN][1000 genomes]
rs1662607	0.89[ASN][1000 genomes]
rs1662612	0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1662613	0.88[ASN][1000 genomes]
rs1942851	0.82[ASN][1000 genomes]
rs1942852	0.82[ASN][1000 genomes]
rs1964436	0.89[ASN][1000 genomes]
rs2006690	0.90[JPT][hapmap]
rs2075826	1.00[ASW][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];0.85[ASN][1000 genomes]
rs2849393	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2849401	0.81[ASN][1000 genomes]
rs2849402	0.81[ASN][1000 genomes]
rs2849404	0.82[ASN][1000 genomes]
rs2849405	0.82[ASN][1000 genomes]
rs2849414	0.90[JPT][hapmap]
rs2849415	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2849416	0.89[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2849418	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2849420	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2851900	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2851901	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2851902	0.83[ASN][1000 genomes]
rs2851903	0.82[ASN][1000 genomes]
rs2851906	0.82[ASN][1000 genomes]
rs2851916	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851922	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2851928	0.85[ASN][1000 genomes]
rs28567958	0.81[ASN][1000 genomes]
rs4321255	0.82[ASN][1000 genomes]
rs4359510	0.82[ASN][1000 genomes]
rs4399596	0.82[ASN][1000 genomes]
rs4399597	0.82[ASN][1000 genomes]
rs4516292	0.81[ASN][1000 genomes]
rs4617931	0.81[ASN][1000 genomes]
rs4643402	0.81[ASN][1000 genomes]
rs4796944	0.81[ASN][1000 genomes]
rs4797612	0.81[ASN][1000 genomes]
rs4797613	0.85[ASN][1000 genomes]
rs4797615	0.89[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4797616	0.81[ASN][1000 genomes]
rs4797617	0.81[ASN][1000 genomes]
rs4797618	0.81[ASN][1000 genomes]
rs56076781	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57512036	0.81[ASN][1000 genomes]
rs583965	0.85[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs594235	0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs596081	0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs596142	0.88[ASN][1000 genomes]
rs597072	0.88[ASN][1000 genomes]
rs597094	0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs597147	0.88[ASN][1000 genomes]
rs597965	0.88[ASN][1000 genomes]
rs597973	0.88[ASN][1000 genomes]
rs598005	0.89[ASN][1000 genomes]
rs609104	0.88[ASN][1000 genomes]
rs609588	0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs613993	0.85[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs627448	0.92[ASN][1000 genomes]
rs627492	0.84[ASN][1000 genomes]
rs640088	0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6505710	0.89[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs655840	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs656193	0.82[ASW][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs674758	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs687869	0.88[ASN][1000 genomes]
rs7230733	0.81[ASN][1000 genomes]
rs7231001	0.81[ASN][1000 genomes]
rs7231981	0.81[ASN][1000 genomes]
rs7236715	0.89[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7237877	0.81[ASN][1000 genomes]
rs7242326	0.82[ASN][1000 genomes]
rs7242561	0.81[ASN][1000 genomes]
rs7242892	0.81[ASN][1000 genomes]
rs8083240	0.81[ASN][1000 genomes]
rs8099334	0.81[ASN][1000 genomes]
rs948752	0.82[ASN][1000 genomes]
rs949229	0.82[ASN][1000 genomes]
rs949231	0.81[ASN][1000 genomes]
rs949232	0.81[ASN][1000 genomes]
rs949233	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs9952038	0.81[ASN][1000 genomes]
rs9959517	0.81[ASN][1000 genomes]
rs9959561	0.81[ASN][1000 genomes]
rs9959774	0.81[ASN][1000 genomes]
rs9959781	0.81[ASN][1000 genomes]
rs9960429	0.82[ASN][1000 genomes]
rs9960443	0.81[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:23 , 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	chr18:12041000-12042400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:12041000-12042400	Enhancers	NHDF-Ad	bronchial
9	chr18:12041000-12042400	Enhancers	Osteobl	bone
10	chr18:12041000-12042600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:12041000-12042800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:12041000-12042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:12041200-12042000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:12041200-12042000	Enhancers	HSMMtube	muscle
15	chr18:12041200-12042000	Enhancers	NH-A	brain
16	chr18:12041200-12042200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:12041200-12042200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:12041200-12042200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr18:12041200-12042400	Enhancers	HMEC	breast
20	chr18:12041200-12042600	Enhancers	A549	lung
21	chr18:12041200-12042600	Enhancers	NHLF	lung
22	chr18:12041400-12042000	Enhancers	NHEK	skin
23	chr18:12041400-12042400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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