Variant report

Variant	rs548692592
Chromosome Location	chr18:12308187-12308188
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	MAX	chr18:12307154-12308384	NB4	blood:	n/a	chr18:12308001-12308011
2	SIN3A	chr18:12307178-12309035	H1-hESC	embryonic stem cell:	n/a	chr18:12308357-12308370
3	CREB1	chr18:12308080-12308976	HepG2	liver:	n/a	n/a
4	ETS1	chr18:12308049-12308521	K562	blood:	n/a	n/a
5	REST	chr18:12308184-12308378	A549	lung:	n/a	n/a
6	RAD21	chr18:12308168-12308342	K562	blood:	n/a	n/a
7	POLR2A	chr18:12307748-12308946	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr18:12307838-12308852	PANC-1	pancreas:	n/a	n/a
9	YY1	chr18:12307875-12308481	GM12891	blood:	n/a	chr18:12307927-12307938
10	PML	chr18:12308014-12308562	GM12878	blood:	n/a	n/a
11	MAX	chr18:12307829-12309191	A549	lung:	n/a	chr18:12308001-12308011
12	POLR2A	chr18:12307196-12309126	ProgFib	skin:	n/a	n/a
13	POLR2A	chr18:12307888-12308975	HEK293	kidney:	n/a	n/a
14	EGR1	chr18:12308025-12308229	GM12878	blood:	n/a	chr18:12308094-12308103 chr18:12308141-12308155
15	POLR2A	chr18:12308162-12308381	HepG2	liver:	n/a	n/a
16	MAX	chr18:12307809-12308503	H1-hESC	embryonic stem cell:	n/a	chr18:12308001-12308011
17	EGR1	chr18:12307899-12308435	ECC-1	luminal epithelium:	n/a	chr18:12308094-12308103 chr18:12308141-12308155 chr18:12308001-12308011 chr18:12308280-12308290 chr18:12307998-12308011
18	POLR2A	chr18:12307140-12311108	MCF10A-Er-Src	breast:	n/a	n/a
19	TAF1	chr18:12308095-12308417	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr18:12308171-12308514	GM12891	blood:	n/a	n/a
21	POLR2A	chr18:12307869-12309146	SK-N-SH	brain:	n/a	n/a
22	MAX	chr18:12307973-12308379	K562	blood:	n/a	chr18:12308001-12308011
23	YY1	chr18:12307919-12308545	GM12892	blood:	n/a	chr18:12307927-12307938
24	JUND	chr18:12308021-12308998	A549	lung:	n/a	chr18:12308781-12308792
25	POLR2A	chr18:12307792-12309181	GM12878	blood:	n/a	n/a
26	JUND	chr18:12307075-12309165	SK-N-SH	brain:	n/a	chr18:12307795-12307804 chr18:12308781-12308792
27	YY1	chr18:12307899-12308620	HepG2	liver:	n/a	chr18:12307927-12307938 chr18:12308538-12308549 chr18:12308563-12308577
28	ZBTB7A	chr18:12307717-12309262	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr18:12307816-12309201	ECC-1	luminal epithelium:	n/a	n/a
30	TAF1	chr18:12307929-12308446	GM12878	blood:	n/a	n/a
31	RAD21	chr18:12307840-12308503	H1-hESC	embryonic stem cell:	n/a	chr18:12308037-12308051 chr18:12308039-12308053
32	POLR2A	chr18:12304971-12316847	IMR90	lung:	n/a	n/a
33	TAF1	chr18:12307949-12308487	PFSK-1	brain:	n/a	n/a
34	ZNF143	chr18:12307358-12308916	GM12878	blood:	n/a	chr18:12308007-12308017 chr18:12308280-12308290 chr18:12307625-12307635
35	POLR2A	chr18:12307791-12309161	GM12878	blood:	n/a	n/a
36	EGR1	chr18:12307847-12308406	ECC-1	luminal epithelium:	n/a	chr18:12308094-12308103 chr18:12308141-12308155 chr18:12308001-12308011 chr18:12308280-12308290 chr18:12307998-12308011
37	ETS1	chr18:12308164-12308600	K562	blood:	n/a	n/a
38	SIN3AK20	chr18:12307911-12309062	HCT-116	colon:	n/a	n/a
39	TAF1	chr18:12308140-12308463	HepG2	liver:	n/a	n/a
40	POLR2A	chr18:12307789-12309217	U87	brain:	n/a	n/a
41	TBP	chr18:12307908-12309140	K562	blood:	n/a	n/a
42	POLR2A	chr18:12307827-12309066	K562	blood:	n/a	n/a
43	CHD1	chr18:12306712-12310268	IMR90	lung:	n/a	chr18:12307601-12307611
44	ZMIZ1	chr18:12307987-12309044	K562	blood:	n/a	n/a
45	TAF1	chr18:12308105-12308357	GM12892	blood:	n/a	n/a
46	POLR2A	chr18:12307879-12309131	GM19193	blood:	n/a	n/a
47	TAF1	chr18:12308176-12308345	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr18:12307923-12308636	ECC-1	luminal epithelium:	n/a	n/a
49	TAF1	chr18:12307934-12309159	K562	blood:	n/a	n/a
50	E2F6	chr18:12307933-12309059	K562	blood:	n/a	chr18:12308938-12308945 chr18:12308007-12308017 chr18:12308281-12308290 chr18:12308003-12308012 chr18:12308604-12308614 chr18:12308938-12308945 chr18:12308934-12308946 chr18:12308937-12308946 chr18:12308938-12308945

No.	Distal block	Cell Line	Cell type
1	chr18:12307823..12308792-chr7:152160863..152161673,3	Hela-S3	cervix:
2	chr18:12308151..12309049-chr7:100025997..100026635,2	Hela-S3	cervix:
3	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
4	chr18:12306558..12308875-chr18:12376128..12379112,4	MCF-7	breast:
5	chr18:12307737..12309568-chr20:45947449..45950208,2	MCF-7	breast:
6	chr18:12307367..12309512-chr18:12310463..12312362,3	MCF-7	breast:
7	chr18:12307184..12308743-chr18:12701040..12703824,2	K562	blood:
8	chr18:12306506..12308836-chr18:12701681..12703824,3	K562	blood:
9	chr18:12307869..12309956-chr18:12375801..12377728,3	MCF-7	breast:
10	chr18:12306891..12312604-chr18:12376208..12378768,5	K562	blood:
11	chr18:12305251..12310573-chr18:12373540..12378768,12	K562	blood:
12	chr18:12308021..12308924-chr6:42713872..42714815,2	Hela-S3	cervix:
13	chr18:12303398..12305461-chr18:12307257..12308973,2	MCF-7	breast:
14	chr18:12308177..12308950-chr19:47616370..47617080,2	Hela-S3	cervix:

Variant related genes	Relation type
RNU6-170P	TF binding region
TUBB6	TF binding region
ENSG00000142230	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000199702	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000124659	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000261455	Chromatin interaction
ENSG00000130749	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers 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 miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058661	chr18:12280366-12313865	Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	esv3316265	chr18:12307177-12309725	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
14	esv3316266	chr18:12307177-12309725	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
15	esv3345228	chr18:12307452-12309350	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12306400-12309400	Active TSS	HSMMtube	muscle
2	chr18:12306600-12309600	Active TSS	Right Atrium	heart
3	chr18:12306800-12308600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr18:12307000-12308800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:12307000-12309000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:12307000-12309400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:12307000-12309400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr18:12307000-12309400	Active TSS	Ovary	ovary
9	chr18:12307000-12309400	Active TSS	HSMM	muscle
10	chr18:12307000-12309400	Active TSS	NHDF-Ad	bronchial
11	chr18:12307000-12309400	Active TSS	NHLF	lung
12	chr18:12307000-12309600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr18:12307000-12309600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:12307000-12309600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:12307000-12309600	Active TSS	Colon Smooth Muscle	Colon
16	chr18:12307000-12309600	Active TSS	Rectal Smooth Muscle	rectum
17	chr18:12307000-12309800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr18:12307200-12308200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr18:12307200-12308800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr18:12307200-12308800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:12307200-12308800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr18:12307200-12308800	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr18:12307200-12308800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr18:12307200-12309000	Active TSS	Lung	lung
25	chr18:12307200-12309000	Active TSS	Small Intestine	intestine
26	chr18:12307200-12309200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr18:12307200-12309200	Bivalent/Poised TSS	Thymus	Thymus
28	chr18:12307200-12309400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:12307200-12309400	Bivalent/Poised TSS	Fetal Lung	lung
30	chr18:12307200-12309400	Active TSS	Hela-S3	cervix
31	chr18:12307200-12309600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:12307200-12309600	Active TSS	Left Ventricle	heart
33	chr18:12307200-12309800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr18:12307200-12310000	Active TSS	Aorta	Aorta
35	chr18:12307400-12308200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:12307400-12308200	Weak transcription	Spleen	Spleen
37	chr18:12307400-12308400	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr18:12307400-12308400	Active TSS	Psoas Muscle	Psoas
39	chr18:12307400-12308400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
40	chr18:12307400-12308800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr18:12307400-12309000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:12307400-12309000	Active TSS	Fetal Stomach	stomach
43	chr18:12307400-12309200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr18:12307400-12309200	Active TSS	Brain Angular Gyrus	brain
45	chr18:12307400-12309200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr18:12307400-12309400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr18:12307400-12309400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:12307400-12309400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:12307400-12309400	Active TSS	NH-A	brain
50	chr18:12307400-12309400	Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links