Variant report

Variant	rs531951057
Chromosome Location	chr18:12947091-12947092
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr18:12946529-12947224	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr18:12946718-12949058	K562	blood:	n/a	n/a
3	POLR2A	chr18:12946772-12947739	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr18:12946826-12949126	HepG2	liver:	n/a	n/a
5	MAX	chr18:12947073-12947660	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFIC	chr18:12946646-12947117	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr18:12946891-12947208	K562	blood:	n/a	n/a
8	ZNF384	chr18:12946683-12947691	K562	blood:	n/a	n/a
9	RXRA	chr18:12946586-12947203	SK-N-SH	brain:	n/a	chr18:12946661-12946680
10	MYC	chr18:12946836-12948845	K562	blood:	n/a	chr18:12948057-12948066 chr18:12948452-12948461 chr18:12948452-12948461 chr18:12948453-12948460 chr18:12947967-12947977
11	POLR2A	chr18:12946961-12948903	HL-60	blood:	n/a	n/a
12	POLR2A	chr18:12946831-12947264	HCT-116	colon:	n/a	n/a
13	MAX	chr18:12946630-12949025	HepG2	liver:	n/a	chr18:12948057-12948066 chr18:12948452-12948461 chr18:12948452-12948461 chr18:12948453-12948460 chr18:12947967-12947977
14	POLR2A	chr18:12944542-12947768	K562	blood:	n/a	n/a
15	POLR2A	chr18:12946981-12948835	GM12878	blood:	n/a	n/a
16	ZNF143	chr18:12946841-12947222	K562	blood:	n/a	n/a
17	CEBPB	chr18:12946586-12947147	K562	blood:	n/a	chr18:12946774-12946785
18	EP300	chr18:12946589-12947785	ECC-1	luminal epithelium:	n/a	chr18:12947122-12947136 chr18:12947126-12947135
19	TAF1	chr18:12946919-12947286	K562	blood:	n/a	n/a
20	POLR2A	chr18:12946838-12948804	K562	blood:	n/a	n/a
21	RCOR1	chr18:12946926-12947728	GM12878	blood:	n/a	n/a
22	SP1	chr18:12946712-12947157	A549	lung:	n/a	n/a
23	POLR2A	chr18:12947082-12948789	GM19193	blood:	n/a	n/a
24	POLR2A	chr18:12946770-12948850	K562	blood:	n/a	n/a
25	MAZ	chr18:12946534-12949045	IMR90	lung:	n/a	chr18:12948057-12948066 chr18:12948452-12948461 chr18:12948452-12948461 chr18:12948453-12948460 chr18:12947967-12947977
26	RCOR1	chr18:12946579-12948733	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr18:12947020-12947310	NHLF	lung:	n/a	n/a
28	BRCA1	chr18:12946651-12947206	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr18:12947028-12948947	PFSK-1	brain:	n/a	n/a
30	MXI1	chr18:12946619-12948978	IMR90	lung:	n/a	n/a
31	TAF1	chr18:12946820-12947256	Hela-S3	cervix:	n/a	n/a
32	ZMIZ1	chr18:12946843-12947137	K562	blood:	n/a	n/a
33	SMARCB1	chr18:12946966-12948773	Hela-S3	cervix:	n/a	n/a
34	ZKSCAN1	chr18:12946693-12947649	Hela-S3	cervix:	n/a	n/a
35	HNF4A	chr18:12946701-12947143	HepG2	liver:	n/a	chr18:12946898-12946913 chr18:12946899-12946913
36	POLR2A	chr18:12946782-12947757	PFSK-1	brain:	n/a	n/a
37	NFIC	chr18:12946596-12947378	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr18:12946631-12947139	ECC-1	luminal epithelium:	n/a	chr18:12946774-12946785
39	PBX3	chr18:12946617-12947138	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr18:12947090-12948792	Gliobla	brain:	n/a	n/a
41	MYBL2	chr18:12946634-12947718	HepG2	liver:	n/a	n/a
42	POLR2A	chr18:12946907-12948770	K562	blood:	n/a	n/a
43	CTCF	chr18:12946907-12947099	HepG2	liver:	n/a	n/a
44	TCF12	chr18:12946597-12947794	ECC-1	luminal epithelium:	n/a	chr18:12946818-12946828 chr18:12947468-12947478 chr18:12946888-12946896
45	TCF12	chr18:12946617-12947349	ECC-1	luminal epithelium:	n/a	chr18:12946818-12946828 chr18:12946888-12946896
46	BACH1	chr18:12946796-12947165	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr18:12946805-12947276	K562	blood:	n/a	n/a
48	CTCF	chr18:12947000-12947150	BJ	skin:	n/a	n/a
49	TAF1	chr18:12946744-12947245	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr18:12946980-12947130	HCPEpiC	choroid plexus:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12947066-12947116	SK-N-SH_RA	brain:	n/a
2	chr18:12947066-12947116	H1-hESC	embryonic stem cell:	embryo
3	chr18:12947066-12947116	GM06990	blood:	n/a
4	chr18:12947066-12947116	Hela-S3	cervix:	n/a
5	chr18:12947066-12947116	AG09319	gingival:	n/a
6	chr18:12947066-12947116	ovcar-3	ovarian:	n/a
7	chr18:12947066-12947116	GM12891	blood:	n/a
8	chr18:12947066-12947116	AoSMC	blood vessel:	n/a
9	chr18:12947066-12947116	AG04449	skin:	fetal
10	chr18:12947066-12947116	AG10803	skin:	n/a
11	chr18:12947066-12947116	HRPEpiC	eye:	n/a
12	chr18:12947066-12947116	K562	blood:	n/a
13	chr18:12947066-12947116	HCT-116	colon:	n/a
14	chr18:12947066-12947116	GM12892	blood:	n/a
15	chr18:12947066-12947116	HIPEpiC	eye:	n/a
16	chr18:12947066-12947116	SKMC	muscle:	n/a
17	chr18:12947066-12947116	MCF-7	breast:	n/a
18	chr18:12947066-12947116	NHDF-neo	bronchial:	n/a
19	chr18:12947066-12947116	Jurkat	blood:	n/a
20	chr18:12947066-12947116	ECC-1	luminal epithelium:	n/a
21	chr18:12947066-12947116	HPAEpiC	pulmonary alveolar:	n/a
22	chr18:12947066-12947116	HMEC	breast:	n/a
23	chr18:12947066-12947116	NB4	blood:	n/a
24	chr18:12947066-12947116	HEEpiC	esophagus:	n/a
25	chr18:12947066-12947116	Hepatocyte	liver:	n/a
26	chr18:12947066-12947116	LNCaP	prostate:	n/a
27	chr18:12947066-12947116	NT2-D1	testis:	n/a
28	chr18:12947066-12947116	IMR90	lung:	fetal
29	chr18:12947066-12947116	NHBE	bronchial:	n/a
30	chr18:12947066-12947116	U87	brain:	n/a
31	chr18:12947066-12947116	SAEC	small airway:	n/a
32	chr18:12947066-12947116	HUVEC	blood vessel:	n/a
33	chr18:12947066-12947116	AG04450	lung:	fetal
34	chr18:12947066-12947116	SK-N-SH	brain:	n/a
35	chr18:12947066-12947116	HepG2	liver:	n/a
36	chr18:12947066-12947116	ProgFib	skin:	n/a
37	chr18:12947066-12947116	PrEC	prostate:	n/a
38	chr18:12947066-12947116	MCF10A-Er-Src	breast:	n/a
39	chr18:12947066-12947116	AG09309	skin:	n/a
40	chr18:12947066-12947116	HEK293	kidney:	embryo
41	chr18:12947066-12947116	SK-N-MC	brain:	n/a
42	chr18:12947066-12947116	HRE	kidney:	n/a
43	chr18:12947066-12947116	HCF	heart:	n/a
44	chr18:12947066-12947116	NH-A	brain:	n/a
45	chr18:12947066-12947116	T-47D	breast:	n/a
46	chr18:12947066-12947116	PFSK-1	brain:	n/a
47	chr18:12947066-12947116	HRCEpiC	kidney:	n/a
48	chr18:12947066-12947116	A549	lung:	n/a
49	chr18:12947066-12947116	RPTEC	kidney:	n/a
50	chr18:12947066-12947116	Caco-2	colon:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12947032..12947845-chr19:10304947..10305817,2	Hela-S3	cervix:
2	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:
3	chr18:12946715..12947712-chr20:44563153..44563778,2	Hela-S3	cervix:
4	chr18:12946771..12949148-chr18:13055556..13057689,2	K562	blood:
5	chr18:12928157..12929851-chr18:12946775..12948725,2	K562	blood:
6	chr18:12700182..12704223-chr18:12944670..12949511,9	K562	blood:
7	chr18:12928762..12931382-chr18:12946071..12947896,2	MCF-7	breast:
8	chr18:12373949..12378992-chr18:12946352..12949410,8	K562	blood:
9	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
10	chr18:12946986..12949410-chr18:12970714..12972312,2	MCF-7	breast:
11	chr18:12946237..12948654-chr18:13006557..13008669,3	K562	blood:
12	chr18:12946883..12949783-chr18:12990489..12993346,5	MCF-7	breast:
13	chr18:12836738..12838821-chr18:12946925..12949352,2	K562	blood:
14	chr18:12701407..12705081-chr18:12945993..12949483,5	MCF-7	breast:
15	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
16	chr18:12376943..12379295-chr18:12946308..12947818,2	K562	blood:
17	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
18	chr18:12700812..12705381-chr18:12946243..12950219,9	K562	blood:
19	chr18:12882771..12885367-chr18:12946819..12949664,2	MCF-7	breast:
20	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
21	chr1:28974722..28975572-chr18:12946882..12947646,2	Hela-S3	cervix:
22	chr18:12375798..12379149-chr18:12946624..12949226,4	MCF-7	breast:
23	chr18:12945869..12950267-chr18:12985686..12992743,10	MCF-7	breast:

No data

Variant related genes	Relation type
SEH1L	TF binding region
SEH1L	CpG island
ENSG00000100982	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000130816	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription 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	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	esv3342017	chr18:12946977-12949725	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	esv3446919	chr18:12947052-12949000	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12946200-12947200	Flanking Active TSS	Dnd41	blood
2	chr18:12946200-12947600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:12946200-12949000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:12946200-12949200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:12946200-12949400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr18:12946400-12947600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr18:12946400-12947600	Flanking Active TSS	Fetal Thymus	thymus
8	chr18:12946400-12948400	Active TSS	GM12878-XiMat	blood
9	chr18:12946400-12948400	Active TSS	HMEC	breast
10	chr18:12946400-12948800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:12946400-12948800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:12946400-12949000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:12946400-12949000	Active TSS	HSMMtube	muscle
14	chr18:12946400-12949200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr18:12946400-12949200	Active TSS	K562	blood
16	chr18:12946400-12949400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:12946400-12949400	Active TSS	HSMM	muscle
18	chr18:12946600-12947200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr18:12946600-12947400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:12946600-12947400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr18:12946600-12947400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr18:12946600-12947400	Flanking Active TSS	NH-A	brain
23	chr18:12946600-12947600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr18:12946600-12947600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:12946600-12947600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr18:12946600-12947600	Flanking Active TSS	HUVEC	blood vessel
27	chr18:12946600-12947600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr18:12946600-12948400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr18:12946600-12948400	Active TSS	NHLF	lung
30	chr18:12946600-12948600	Active TSS	Fetal Intestine Large	intestine
31	chr18:12946600-12948600	Active TSS	Right Ventricle	heart
32	chr18:12946600-12948600	Active TSS	Hela-S3	cervix
33	chr18:12946600-12948600	Active TSS	HepG2	liver
34	chr18:12946600-12948600	Active TSS	NHDF-Ad	bronchial
35	chr18:12946600-12948800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:12946600-12948800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr18:12946600-12948800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr18:12946600-12949000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr18:12946600-12949000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr18:12946600-12949000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:12946600-12949000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr18:12946600-12949000	Active TSS	A549	lung
43	chr18:12946600-12949200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr18:12946600-12949200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:12946600-12949200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:12946600-12949400	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr18:12946600-12949400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:12946800-12947200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr18:12946800-12947200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr18:12946800-12947200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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