Variant report

Variant	rs59551512
Chromosome Location	chr18:12421084-12421085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr18:12420958-12421341	GM12878	blood:	n/a	n/a
2	POLR2A	chr18:12420800-12421211	GM12891	blood:	n/a	n/a
3	MAX	chr18:12420981-12421237	GM12878	blood:	n/a	n/a
4	CEBPD	chr18:12420920-12421405	HepG2	liver:	n/a	n/a
5	NFIC	chr18:12421037-12421499	HepG2	liver:	n/a	chr18:12421288-12421316
6	POLR2A	chr18:12420875-12421414	GM12891	blood:	n/a	n/a
7	EP300	chr18:12420844-12421324	H1-hESC	embryonic stem cell:	n/a	chr18:12421158-12421174
8	TAF1	chr18:12420906-12421194	GM12878	blood:	n/a	n/a
9	MAX	chr18:12420742-12421456	H1-hESC	embryonic stem cell:	n/a	chr18:12420853-12420862
10	HEY1	chr18:12420783-12421466	HepG2	liver:	n/a	n/a
11	RUNX3	chr18:12420823-12421341	GM12878	blood:	n/a	n/a
12	MYC	chr18:12420990-12421276	NB4	blood:	n/a	n/a
13	JUND	chr18:12420896-12421310	H1-hESC	embryonic stem cell:	n/a	chr18:12421141-12421151
14	YY1	chr18:12420832-12421263	H1-hESC	embryonic stem cell:	n/a	chr18:12420956-12420970
15	POLR2A	chr18:12420823-12421488	HepG2	liver:	n/a	n/a
16	RAD21	chr18:12420870-12421457	H1-hESC	embryonic stem cell:	n/a	chr18:12421170-12421184 chr18:12421162-12421175 chr18:12421155-12421169 chr18:12421181-12421191
17	POLR2A	chr18:12419807-12421462	HepG2	liver:	n/a	n/a
18	POLR2A	chr18:12419707-12421427	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr18:12420804-12421243	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr18:12420799-12421223	GM12878	blood:	n/a	n/a
21	JUND	chr18:12420902-12421392	H1-hESC	embryonic stem cell:	n/a	chr18:12421141-12421151
22	HDAC2	chr18:12420825-12421483	HepG2	liver:	n/a	n/a
23	POLR2A	chr18:12420764-12421325	GM12892	blood:	n/a	n/a
24	MYBL2	chr18:12420976-12421431	HepG2	liver:	n/a	n/a
25	RAD21	chr18:12420991-12421335	H1-hESC	embryonic stem cell:	n/a	chr18:12421170-12421184 chr18:12421162-12421175 chr18:12421155-12421169 chr18:12421181-12421191
26	POLR2A	chr18:12420809-12421705	HepG2	liver:	n/a	n/a
27	POLR2A	chr18:12420782-12421255	GM12878	blood:	n/a	n/a
28	BHLHE40	chr18:12420897-12421455	HepG2	liver:	n/a	n/a
29	POU2F2	chr18:12420912-12421244	GM12891	blood:	n/a	chr18:12421051-12421069 chr18:12421056-12421066 chr18:12421056-12421065 chr18:12421053-12421067 chr18:12421054-12421067 chr18:12421056-12421066 chr18:12421198-12421210 chr18:12421055-12421067 chr18:12421057-12421064
30	POLR2A	chr18:12420791-12421609	SK-N-MC	brain:	n/a	n/a
31	EP300	chr18:12420803-12421388	H1-hESC	embryonic stem cell:	n/a	chr18:12421158-12421174
32	CHD2	chr18:12420864-12421173	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr18:12420800-12421201	HepG2	liver:	n/a	n/a
34	POLR2A	chr18:12420813-12421431	NB4	blood:	n/a	n/a
35	MAX	chr18:12420988-12421405	NB4	blood:	n/a	n/a
36	ELF1	chr18:12420843-12421443	GM12878	blood:	n/a	n/a
37	POLR2A	chr18:12420764-12421549	HepG2	liver:	n/a	n/a
38	CHD2	chr18:12420970-12421204	GM12878	blood:	n/a	n/a
39	BHLHE40	chr18:12420957-12421323	GM12878	blood:	n/a	n/a
40	MAZ	chr18:12420936-12421331	GM12878	blood:	n/a	n/a
41	CTCF	chr18:12421020-12421170	GM12873	blood:	n/a	chr18:12421108-12421116 chr18:12421101-12421119
42	POLR2A	chr18:12419541-12421789	HepG2	liver:	n/a	n/a
43	HEY1	chr18:12420755-12421573	HepG2	liver:	n/a	n/a
44	SIN3A	chr18:12420901-12421474	H1-hESC	embryonic stem cell:	n/a	chr18:12421255-12421266
45	ZNF263	chr18:12420859-12421293	HEK293-T-REx	kidney:	n/a	n/a
46	TAF1	chr18:12420806-12421395	HepG2	liver:	n/a	n/a
47	TAF1	chr18:12420802-12421425	H1-hESC	embryonic stem cell:	n/a	n/a
48	TBP	chr18:12420815-12421468	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr18:12420940-12421090	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr18:12420785-12421368	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12421072-12421122	K562	blood:	n/a
2	chr18:12421072-12421122	T-47D	breast:	n/a
3	chr18:12421072-12421122	LNCaP	prostate:	n/a
4	chr18:12421072-12421122	ProgFib	skin:	n/a
5	chr18:12421072-12421122	HNPCEpiC	eye:	n/a
6	chr18:12421072-12421122	HUVEC	blood vessel:	n/a
7	chr18:12421072-12421122	HIPEpiC	eye:	n/a
8	chr18:12421072-12421122	A549	lung:	n/a
9	chr18:12421072-12421122	AG04450	lung:	fetal
10	chr18:12421072-12421122	HAEpiC	amniotic membrane:	n/a
11	chr18:12421072-12421122	GM12878	blood:	n/a
12	chr18:12421072-12421122	BJ	skin:	n/a
13	chr18:12421072-12421122	HCPEpiC	choroid plexus:	n/a
14	chr18:12421072-12421122	AG04449	skin:	fetal
15	chr18:12421072-12421122	PrEC	prostate:	n/a
16	chr18:12421072-12421122	PFSK-1	brain:	n/a
17	chr18:12421072-12421122	MCF10A-Er-Src	breast:	n/a
18	chr18:12421072-12421122	HCT-116	colon:	n/a
19	chr18:12421072-12421122	AG09319	gingival:	n/a
20	chr18:12421072-12421122	ovcar-3	ovarian:	n/a
21	chr18:12421072-12421122	SK-N-MC	brain:	n/a
22	chr18:12421072-12421122	AG09309	skin:	n/a
23	chr18:12421072-12421122	Caco-2	colon:	n/a
24	chr18:12421072-12421122	Hepatocyte	liver:	n/a
25	chr18:12421072-12421122	U87	brain:	n/a
26	chr18:12421072-12421122	GM12892	blood:	n/a
27	chr18:12421072-12421122	GM06990	blood:	n/a
28	chr18:12421072-12421122	NH-A	brain:	n/a
29	chr18:12421072-12421122	HEK293	kidney:	embryo
30	chr18:12421072-12421122	NT2-D1	testis:	n/a
31	chr18:12421072-12421122	SK-N-SH	brain:	n/a
32	chr18:12421072-12421122	GM19239	blood:	n/a
33	chr18:12421072-12421122	Jurkat	blood:	n/a
34	chr18:12421072-12421122	CMK	blood:	n/a
35	chr18:12421072-12421122	HEEpiC	esophagus:	n/a
36	chr18:12421072-12421122	HL-60	blood:	n/a
37	chr18:12421072-12421122	ECC-1	luminal epithelium:	n/a
38	chr18:12421072-12421122	AG10803	skin:	n/a
39	chr18:12421072-12421122	NHBE	bronchial:	n/a
40	chr18:12421072-12421122	IMR90	lung:	fetal
41	chr18:12421072-12421122	SAEC	small airway:	n/a
42	chr18:12421072-12421122	SKMC	muscle:	n/a
43	chr18:12421072-12421122	HepG2	liver:	n/a
44	chr18:12421072-12421122	RPTEC	kidney:	n/a
45	chr18:12421072-12421122	SK-N-SH_RA	brain:	n/a
46	chr18:12421072-12421122	GM12891	blood:	n/a
47	chr18:12421072-12421122	NB4	blood:	n/a
48	chr18:12421072-12421122	AoSMC	blood vessel:	n/a
49	chr18:12421072-12421122	NHDF-neo	bronchial:	n/a
50	chr18:12421072-12421122	HRCEpiC	kidney:	n/a

(count:4 , 50 per page) page: 1

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	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLMO1	TF binding region
SLMO1	CpG island
ENSG00000141385	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60709238	1.00[ASN][1000 genomes]

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	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
14	esv3428897	chr18:12419827-12421825	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv3436965	chr18:12420352-12421500	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12419800-12421200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12419800-12421200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:12419800-12421200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr18:12419800-12421200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr18:12419800-12421200	Active TSS	Rectal Smooth Muscle	rectum
8	chr18:12419800-12421400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr18:12419800-12421400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr18:12419800-12421400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr18:12419800-12421400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:12419800-12421400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:12419800-12421400	Active TSS	Fetal Intestine Small	intestine
14	chr18:12419800-12421400	Active TSS	NH-A	brain
15	chr18:12419800-12421600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr18:12420000-12421400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr18:12420000-12421400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:12420200-12421400	Active TSS	Osteobl	bone
19	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
20	chr18:12420400-12421200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr18:12420400-12421200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:12420400-12421200	Weak transcription	Fetal Heart	heart
23	chr18:12420400-12421200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr18:12420400-12421400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr18:12420400-12421400	Enhancers	Placenta	Placenta
26	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:12420600-12421200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:12420600-12421200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr18:12420600-12421200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr18:12420600-12421200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:12420600-12421200	Enhancers	Esophagus	oesophagus
32	chr18:12420600-12421400	Enhancers	Primary B cells from cord blood	blood
33	chr18:12420600-12421400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr18:12420600-12421400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr18:12420600-12421400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:12420600-12422600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:12420600-12423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:12420600-12423600	Weak transcription	Hela-S3	cervix
39	chr18:12420600-12424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:12420600-12426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:12420600-12426600	Weak transcription	HSMM	muscle
42	chr18:12420600-12426600	Weak transcription	HSMMtube	muscle
43	chr18:12420600-12426600	Weak transcription	HUVEC	blood vessel
44	chr18:12420600-12426600	Weak transcription	NHEK	skin
45	chr18:12420600-12426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:12420600-12427000	Weak transcription	Fetal Lung	lung
47	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
48	chr18:12420600-12427800	Weak transcription	HMEC	breast
49	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
50	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart

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