Variant report

Variant	rs971363
Chromosome Location	chr18:11980460-11980461
allele	A/C
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	SIN3AK20	chr18:11980129-11981539	MCF-7	breast:	n/a	n/a
2	CHD2	chr18:11980124-11981266	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr18:11980333-11980777	K562	blood:	n/a	n/a
4	SP1	chr18:11980355-11981448	H1-hESC	embryonic stem cell:	n/a	chr18:11981114-11981124 chr18:11981000-11981012 chr18:11981115-11981124 chr18:11981187-11981201 chr18:11980964-11980973 chr18:11981001-11981010 chr18:11980934-11980943 chr18:11981002-11981011 chr18:11980933-11980942 chr18:11980932-11980943 chr18:11980964-11980973 chr18:11981115-11981124 chr18:11980963-11980972 chr18:11981192-11981201 chr18:11980997-11981011 chr18:11980932-11980944 chr18:11981113-11981125 chr18:11980933-11980943 chr18:11980851-11980862 chr18:11980963-11980973 chr18:11981192-11981201 chr18:11981114-11981123 chr18:11981190-11981202 chr18:11981113-11981125 chr18:11980932-11980944 chr18:11981191-11981200 chr18:11981190-11981202 chr18:11981191-11981201 chr18:11980962-11980974 chr18:11980962-11980974 chr18:11980933-11980943 chr18:11981191-11981201 chr18:11981000-11981012 chr18:11981114-11981124
5	POLR2A	chr18:11980317-11981106	K562	blood:	n/a	n/a
6	TBL1XR1	chr18:11980179-11981225	K562	blood:	n/a	n/a
7	CTCF	chr18:11980460-11980610	GM12873	blood:	n/a	n/a
8	MYBL2	chr18:11980106-11981205	HepG2	liver:	n/a	n/a
9	POLR2A	chr18:11980348-11981830	GM19099	blood:	n/a	n/a
10	POLR2A	chr18:11980370-11981236	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr18:11980409-11980858	K562	blood:	n/a	n/a
12	POLR2A	chr18:11980046-11981745	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr18:11980320-11980470	HepG2	liver:	n/a	n/a
14	UBTF	chr18:11980326-11982285	K562	blood:	n/a	n/a
15	TBP	chr18:11980367-11981096	HepG2	liver:	n/a	n/a
16	POLR2A	chr18:11980254-11981212	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr18:11979815-11984651	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr18:11980200-11982509	NB4	blood:	n/a	n/a
19	MAX	chr18:11980246-11981677	MCF-7	breast:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
20	POLR2A	chr18:11979871-11982537	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr18:11980391-11982280	HepG2	liver:	n/a	n/a
22	POLR2A	chr18:11980422-11981063	GM12892	blood:	n/a	n/a
23	MYC	chr18:11980220-11981254	K562	blood:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
24	E2F6	chr18:11979875-11982298	K562	blood:	n/a	chr18:11980676-11980686 chr18:11981195-11981205 chr18:11981509-11981521 chr18:11981001-11981010
25	MAX	chr18:11980060-11982421	A549	lung:	n/a	chr18:11980736-11980743 chr18:11981882-11981892 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11981808-11981817 chr18:11980733-11980748
26	TAF1	chr18:11980356-11981214	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr18:11980211-11981212	H1-hESC	embryonic stem cell:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
28	MYC	chr18:11980412-11981239	MCF-7	breast:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
29	CHD2	chr18:11980387-11981172	K562	blood:	n/a	n/a
30	IRF1	chr18:11980104-11981222	K562	blood:	n/a	chr18:11980932-11980946 chr18:11981000-11981014 chr18:11981113-11981127 chr18:11980962-11980976 chr18:11981190-11981204
31	HA-E2F1	chr18:11980263-11981255	MCF-7	breast:	n/a	chr18:11980676-11980686 chr18:11981195-11981205 chr18:11981001-11981010
32	CTCF	chr18:11980400-11980550	GM12870	blood:	n/a	n/a
33	MTA3	chr18:11980237-11980952	GM12878	blood:	n/a	n/a
34	BRCA1	chr18:11980153-11981274	Hela-S3	cervix:	n/a	n/a
35	E2F6	chr18:11980084-11981760	H1-hESC	embryonic stem cell:	n/a	chr18:11980676-11980686 chr18:11981195-11981205 chr18:11981509-11981521 chr18:11981001-11981010
36	CEBPB	chr18:11980227-11980554	HepG2	liver:	n/a	n/a
37	FOXA1	chr18:11980191-11980605	HepG2	liver:	n/a	n/a
38	POLR2A	chr18:11980052-11981172	Hela-S3	cervix:	n/a	n/a
39	BHLHE40	chr18:11980187-11982174	HepG2	liver:	n/a	chr18:11981850-11981866 chr18:11981036-11981052 chr18:11981211-11981227 chr18:11981874-11981890 chr18:11981998-11982019
40	TBL1XR1	chr18:11980393-11980885	K562	blood:	n/a	n/a
41	POLR2A	chr18:11980206-11981201	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr18:11980356-11981333	H1-hESC	embryonic stem cell:	n/a	chr18:11980676-11980690
43	POLR2A	chr18:11979874-11982211	Raji	blood:	n/a	n/a
44	POLR2A	chr18:11980259-11981704	K562	blood:	n/a	n/a
45	HCFC1	chr18:11979756-11982606	Hela-S3	cervix:	n/a	n/a
46	BHLHE40	chr18:11980164-11981997	K562	blood:	n/a	chr18:11981850-11981866 chr18:11981036-11981052 chr18:11981211-11981227 chr18:11981874-11981890
47	EP300	chr18:11979965-11981297	K562	blood:	n/a	chr18:11980046-11980055 chr18:11981211-11981227 chr18:11981201-11981217 chr18:11980542-11980558
48	TAF1	chr18:11980356-11981249	K562	blood:	n/a	n/a
49	MAZ	chr18:11980457-11981706	GM12878	blood:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
50	MYC	chr18:11980031-11981196	MCF10A-Er-Src	breast:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748

No.	Distal block	Cell Line	Cell type
1	chr1:28832088..28833058-chr18:11980322..11980977,2	Hela-S3	cervix:
2	chr11:65194558..65195488-chr18:11979959..11980471,2	Hela-S3	cervix:
3	chr18:11979615..11982143-chr18:12376173..12378788,2	K562	blood:
4	chr14:24682206..24682834-chr18:11980405..11981236,2	Hela-S3	cervix:
5	chr18:11848937..11853647-chr18:11979272..11982109,5	K562	blood:
6	chr18:11980301..11981116-chr8:80942163..80942686,2	Hela-S3	cervix:
7	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
8	chr18:11905898..11908508-chr18:11980358..11982828,3	K562	blood:
9	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
10	chr1:104068529..104069287-chr18:11980099..11980792,2	Hela-S3	cervix:
11	chr1:24285780..24286361-chr18:11980215..11981116,2	Hela-S3	cervix:
12	chr18:11979089..11980849-chr18:12109709..12111299,2	K562	blood:
13	chr18:11908235..11908915-chr18:11980031..11980748,2	Hela-S3	cervix:
14	chr18:11906869..11908788-chr18:11979428..11982249,2	K562	blood:
15	chr18:11937666..11938178-chr18:11980436..11980995,2	MCF-7	breast:
16	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:
17	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
18	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
19	chr18:11907153..11910661-chr18:11980045..11982514,4	MCF-7	breast:

Variant related genes	Relation type
IMPA2	TF binding region
ENSG00000180198	Chromatin interaction
ENSG00000147586	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000266955	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000185946	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000189266	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1662602	0.88[ASN][1000 genomes]
rs16976875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976886	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2360082	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28377581	0.87[ASN][1000 genomes]
rs28482939	0.86[ASN][1000 genomes]
rs28561563	0.84[ASN][1000 genomes]
rs28673951	0.84[ASN][1000 genomes]
rs3786305	1.00[ASW][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3865368	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41491746	0.85[JPT][hapmap]
rs4455029	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[ASN][1000 genomes]
rs4797605	0.87[ASN][1000 genomes]
rs584373	0.84[ASN][1000 genomes]
rs585247	0.87[ASN][1000 genomes]
rs619671	0.83[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs62097455	0.82[ASN][1000 genomes]
rs694039	0.81[JPT][hapmap]
rs73945297	0.95[ASN][1000 genomes]
rs8098914	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	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
9	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	esv3424914	chr18:11980377-11982925	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11979000-11980800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr18:11979800-11980600	Flanking Active TSS	Liver	Liver
3	chr18:11979800-11980600	Enhancers	Fetal Heart	heart
4	chr18:11979800-11980600	Enhancers	Small Intestine	intestine
5	chr18:11979800-11980600	Flanking Active TSS	Hela-S3	cervix
6	chr18:11980000-11980600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:11980000-11980600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:11980000-11980600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr18:11980000-11980600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr18:11980000-11980600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr18:11980000-11980600	Flanking Active TSS	K562	blood
12	chr18:11980000-11980600	Flanking Active TSS	NHDF-Ad	bronchial
13	chr18:11980000-11980600	Flanking Active TSS	Osteobl	bone
14	chr18:11980000-11980800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr18:11980000-11980800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:11980000-11980800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr18:11980000-11980800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr18:11980000-11980800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr18:11980000-11980800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:11980000-11980800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:11980000-11980800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr18:11980000-11980800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:11980000-11980800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr18:11980000-11980800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr18:11980000-11980800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr18:11980000-11980800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr18:11980000-11980800	Flanking Active TSS	GM12878-XiMat	blood
28	chr18:11980000-11980800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr18:11980000-11980800	Flanking Active TSS	NHEK	skin
30	chr18:11980000-11981000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr18:11980000-11981000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr18:11980000-11981000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:11980000-11982600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:11980000-11983200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:11980000-11983200	Active TSS	Psoas Muscle	Psoas
36	chr18:11980200-11980600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr18:11980200-11980600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr18:11980200-11980600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr18:11980200-11980600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr18:11980200-11980600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr18:11980200-11980600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:11980200-11980600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:11980200-11980600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:11980200-11980600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:11980200-11980600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr18:11980200-11980600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr18:11980200-11980600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr18:11980200-11980600	Flanking Active TSS	Fetal Lung	lung
49	chr18:11980200-11980600	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr18:11980200-11980600	Flanking Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links