Variant report

Variant	rs1785326
Chromosome Location	chr18:12419776-12419777
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	POLR2A	chr18:12419747-12420625	GM12878	blood:	n/a	n/a
2	MAX	chr18:12419703-12420660	HCT-116	colon:	n/a	n/a
3	MAX	chr18:12419770-12420642	MCF-7	breast:	n/a	n/a
4	MXI1	chr18:12419713-12420736	SK-N-SH	brain:	n/a	n/a
5	POU2F2	chr18:12419758-12420554	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:12419658-12420586	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr18:12419769-12420583	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr18:12419759-12420630	GM12892	blood:	n/a	n/a
9	POLR2A	chr18:12419762-12420600	GM18505	blood:	n/a	n/a
10	POLR2A	chr18:12419759-12420612	Raji	blood:	n/a	n/a
11	TAF1	chr18:12419735-12420606	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr18:12419707-12421427	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr18:12419722-12420565	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr18:12419653-12420568	GM12892	blood:	n/a	n/a
15	MAX	chr18:12419719-12420559	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr18:12419718-12420461	H1-hESC	embryonic stem cell:	n/a	chr18:12420276-12420290 chr18:12420159-12420170 chr18:12420411-12420431
17	POLR2A	chr18:12419775-12420163	GM12891	blood:	n/a	n/a
18	MAX	chr18:12419776-12420700	HepG2	liver:	n/a	n/a
19	POLR2A	chr18:12419770-12420514	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr18:12419762-12420597	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr18:12419643-12420661	GM12878	blood:	n/a	n/a
22	POLR2A	chr18:12419635-12420582	GM12892	blood:	n/a	n/a
23	POLR2A	chr18:12419627-12420702	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr18:12419724-12420209	GM12878	blood:	n/a	n/a
25	POLR2A	chr18:12419735-12420622	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr18:12419709-12420580	GM12878	blood:	n/a	n/a
27	POLR2A	chr18:12419753-12420602	GM12878	blood:	n/a	n/a
28	POLR2A	chr18:12419753-12420589	GM10847	blood:	n/a	n/a
29	POLR2A	chr18:12419678-12420559	GM12892	blood:	n/a	n/a
30	TAF1	chr18:12419664-12420160	GM12878	blood:	n/a	n/a
31	POLR2A	chr18:12419757-12420625	GM15510	blood:	n/a	n/a
32	MXI1	chr18:12419729-12420633	IMR90	lung:	n/a	n/a
33	POLR2A	chr18:12419654-12420622	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr18:12419745-12420513	GM12891	blood:	n/a	n/a
35	YY1	chr18:12419676-12420583	GM12892	blood:	n/a	chr18:12420276-12420290 chr18:12420159-12420170 chr18:12420411-12420431
36	POLR2A	chr18:12419610-12420601	GM12892	blood:	n/a	n/a
37	POLR2A	chr18:12419721-12420531	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr18:12419761-12420616	GM18526	blood:	n/a	n/a
39	MYBL2	chr18:12419727-12420270	HepG2	liver:	n/a	n/a
40	POLR2A	chr18:12419750-12420493	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr18:12419630-12420713	PFSK-1	brain:	n/a	n/a
42	ELF1	chr18:12419765-12420605	GM12878	blood:	n/a	chr18:12420278-12420290 chr18:12420156-12420168 chr18:12420150-12420162
43	POLR2A	chr18:12419541-12421789	HepG2	liver:	n/a	n/a
44	POLR2A	chr18:12419682-12420626	HepG2	liver:	n/a	n/a
45	E2F6	chr18:12419572-12420585	H1-hESC	embryonic stem cell:	n/a	chr18:12420502-12420512
46	TAF1	chr18:12419734-12420561	HepG2	liver:	n/a	n/a
47	TCF3	chr18:12419771-12420044	GM12878	blood:	n/a	n/a
48	HEY1	chr18:12419733-12420608	HepG2	liver:	n/a	chr18:12420156-12420171
49	YY1	chr18:12419667-12420578	GM12878	blood:	n/a	chr18:12420276-12420290 chr18:12420159-12420170 chr18:12420411-12420431
50	POLR2A	chr18:12419743-12420610	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
2	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
3	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
4	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
5	chr18:12418687..12420720-chr18:12430201..12431737,2	MCF-7	breast:
6	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000141385	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000256786	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1652670	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3906620	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4483914	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs500300	0.81[AMR][1000 genomes]
rs503307	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs529538	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs573390	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62095752	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
5	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
6	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
7	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
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv9610	chr18:12417586-12424527	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv519557	chr18:12417905-12431506	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv3338945	chr18:12419177-12422125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12408800-12419800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr18:12408800-12419800	Weak transcription	Pancreas	Pancrea
3	chr18:12409000-12419800	Weak transcription	Colonic Mucosa	Colon
4	chr18:12409000-12419800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr18:12409000-12419800	Weak transcription	Fetal Kidney	kidney
6	chr18:12409000-12419800	Weak transcription	Fetal Thymus	thymus
7	chr18:12409800-12419800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:12410200-12419800	Weak transcription	NH-A	brain
9	chr18:12410400-12419800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:12410400-12419800	Weak transcription	Right Ventricle	heart
11	chr18:12410400-12430400	Weak transcription	A549	lung
12	chr18:12411800-12419800	Weak transcription	NHEK	skin
13	chr18:12416000-12419800	Weak transcription	Esophagus	oesophagus
14	chr18:12416000-12419800	Weak transcription	Stomach Mucosa	stomach
15	chr18:12416000-12419800	Weak transcription	NHLF	lung
16	chr18:12416000-12420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:12416200-12419800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr18:12416200-12419800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:12416200-12419800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:12416200-12419800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:12416200-12419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:12416200-12419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:12416200-12419800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:12416200-12419800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:12416200-12419800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:12416200-12419800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:12416200-12419800	Weak transcription	Fetal Intestine Small	intestine
28	chr18:12416200-12419800	Weak transcription	Ovary	ovary
29	chr18:12416200-12419800	Weak transcription	Right Atrium	heart
30	chr18:12416200-12420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:12416200-12420000	Weak transcription	Aorta	Aorta
32	chr18:12416200-12420000	Weak transcription	Fetal Heart	heart
33	chr18:12416200-12420000	Weak transcription	Left Ventricle	heart
34	chr18:12416200-12420000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr18:12416200-12420000	Weak transcription	Spleen	Spleen
36	chr18:12416400-12419800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr18:12416400-12419800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:12416400-12419800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr18:12416400-12419800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:12416400-12419800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:12416400-12419800	Weak transcription	Adipose Nuclei	Adipose
42	chr18:12416400-12419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr18:12416400-12419800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:12416400-12419800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr18:12416400-12419800	Weak transcription	HUVEC	blood vessel
46	chr18:12416400-12419800	Weak transcription	Osteobl	bone
47	chr18:12416400-12420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr18:12416400-12420000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:12416400-12420000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr18:12416400-12420000	Weak transcription	HSMM	muscle

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