Variant report

Variant	nsv2208
Chromosome Location	chr18:12472999-12518189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:302)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12501075-12501361	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:12477193-12477315	K562	blood:	n/a	n/a
3	ARID3A	chr18:12491820-12492491	K562	blood:	n/a	n/a
4	ARID3A	chr18:12491517-12491834	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:12493011-12493144	K562	blood:	n/a	n/a
6	ATF1	chr18:12516132-12516618	K562	blood:	n/a	n/a
7	ATF1	chr18:12491636-12492263	K562	blood:	n/a	n/a
8	ATF1	chr18:12478716-12478914	K562	blood:	n/a	n/a
9	ATF3	chr18:12476969-12477275	K562	blood:	n/a	n/a
10	ATF3	chr18:12478701-12479029	K562	blood:	n/a	chr18:12478751-12478764
11	BACH1	chr18:12517220-12517760	K562	blood:	n/a	n/a
12	BACH1	chr18:12491933-12492314	K562	blood:	n/a	n/a
13	BACH1	chr18:12517252-12517438	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr18:12491890-12492249	K562	blood:	n/a	n/a
15	CCNT2	chr18:12491698-12492337	K562	blood:	n/a	chr18:12492035-12492055
16	CEBPB	chr18:12476990-12477319	K562	blood:	n/a	n/a
17	CEBPB	chr18:12501023-12501377	HepG2	liver:	n/a	chr18:12501195-12501206
18	CEBPB	chr18:12516049-12516361	K562	blood:	n/a	n/a
19	CEBPB	chr18:12478744-12479017	IMR90	lung:	n/a	chr18:12478879-12478892 chr18:12478880-12478891
20	CEBPB	chr18:12478698-12479006	A549	lung:	n/a	chr18:12478879-12478892 chr18:12478880-12478891
21	CEBPB	chr18:12491784-12492220	K562	blood:	n/a	n/a
22	CEBPB	chr18:12479479-12479754	K562	blood:	n/a	n/a
23	CEBPB	chr18:12476939-12477333	K562	blood:	n/a	n/a
24	CEBPB	chr18:12490035-12490312	HepG2	liver:	n/a	chr18:12490172-12490183
25	CEBPB	chr18:12477083-12477287	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr18:12490013-12490239	A549	lung:	n/a	chr18:12490172-12490183
27	CEBPB	chr18:12491433-12492208	K562	blood:	n/a	chr18:12491551-12491562
28	CEBPB	chr18:12478698-12479052	H1-hESC	embryonic stem cell:	n/a	chr18:12478879-12478892 chr18:12478880-12478891
29	CEBPB	chr18:12478650-12478968	MCF-7	breast:	n/a	chr18:12478879-12478892 chr18:12478880-12478891
30	CEBPB	chr18:12479453-12479670	K562	blood:	n/a	n/a
31	CEBPB	chr18:12501107-12501285	K562	blood:	n/a	chr18:12501195-12501206
32	CEBPB	chr18:12478769-12479004	Hela-S3	cervix:	n/a	chr18:12478879-12478892 chr18:12478880-12478891
33	CEBPB	chr18:12478768-12479031	K562	blood:	n/a	chr18:12478879-12478892 chr18:12478880-12478891
34	CEBPB	chr18:12478744-12478971	HepG2	liver:	n/a	chr18:12478879-12478892 chr18:12478880-12478891
35	CEBPB	chr18:12491430-12491670	HepG2	liver:	n/a	chr18:12491551-12491562
36	CEBPB	chr18:12494919-12495076	K562	blood:	n/a	n/a
37	CEBPB	chr18:12477004-12477276	K562	blood:	n/a	n/a
38	CEBPD	chr18:12491803-12492359	K562	blood:	n/a	n/a
39	CEBPD	chr18:12491794-12492324	K562	blood:	n/a	n/a
40	CTCF	chr18:12478397-12478410	MCF-7	breast:	n/a	n/a
41	CTCF	chr18:12478780-12478930	HRE	kidney:	n/a	n/a
42	CTCF	chr18:12478780-12478930	HCT-116	colon:	n/a	n/a
43	CTCF	chr18:12513597-12513645	GM20000	blood:	n/a	n/a
44	CTCF	chr18:12478351-12478434	Fibrobl	skin:	n/a	n/a
45	CTCF	chr18:12478377-12478380	MCF-7	breast:	n/a	n/a
46	CTCF	chr18:12478720-12478870	AG04450	lung:	n/a	n/a
47	CTCF	chr18:12497480-12497630	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr18:12478754-12478906	MCF-7	breast:	n/a	n/a
49	CTCF	chr18:12478800-12478950	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr18:12496972-12497027	Kidney_OC	kidney:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12481122..12482986-chr18:12486539..12488285,2	K562	blood:
2	chr18:12511013..12513925-chr18:12546965..12549952,2	K562	blood:
3	chr18:12514130..12515748-chr18:12657315..12660207,2	MCF-7	breast:
4	chr18:12478411..12479284-chr18:12659311..12660299,2	MCF-7	breast:
5	chr18:12481122..12482986-chr18:12486539..12488285,2	K562	blood:
6	chr18:12480204..12483601-chr18:12657660..12659275,3	MCF-7	breast:
7	chr18:12477211..12478856-chr18:12483815..12485642,2	K562	blood:
8	chr18:12477211..12478856-chr18:12483815..12485642,2	K562	blood:
9	chr18:12476285..12479022-chr18:12480958..12482478,2	K562	blood:
10	chr18:12512543..12514903-chr18:12518908..12520482,2	MCF-7	breast:
11	chr18:12506641..12508395-chr18:12656408..12658809,2	MCF-7	breast:
12	chr18:12487888..12489468-chr18:12491186..12492956,2	K562	blood:
13	chr18:12488792..12490791-chr18:12657276..12659275,2	MCF-7	breast:
14	chr18:12469862..12472463-chr18:12473454..12475664,3	K562	blood:
15	chr18:12466910..12468517-chr18:12473202..12476179,2	K562	blood:
16	chr18:12508980..12512518-chr18:12512927..12516580,4	K562	blood:
17	chr18:12464094..12466231-chr18:12487109..12489946,2	MCF-7	breast:
18	chr18:12418823..12421425-chr18:12517260..12519839,2	MCF-7	breast:
19	chr18:12457149..12459237-chr18:12472773..12475117,2	K562	blood:
20	chr18:12487888..12489468-chr18:12491186..12492956,2	K562	blood:
21	chr18:12476285..12479022-chr18:12480958..12482478,2	K562	blood:
22	chr18:12504696..12507292-chr18:12508161..12510716,2	K562	blood:
23	chr18:12461944..12463816-chr18:12474818..12476468,2	K562	blood:
24	chr18:12493953..12496001-chr18:12499792..12502495,2	K562	blood:
25	chr18:12462316..12465200-chr18:12474818..12476676,2	K562	blood:
26	chr18:12504319..12507292-chr18:12508161..12510811,3	K562	blood:
27	chr18:12491319..12493791-chr18:12507007..12509438,2	K562	blood:
28	chr18:12493953..12496001-chr18:12499792..12502495,2	K562	blood:
29	chr18:12428003..12430631-chr18:12490469..12492690,2	K562	blood:
30	chr18:12492408..12492934-chr2:36835622..36836122,2	Hela-S3	cervix:
31	chr18:12449576..12451489-chr18:12473727..12475245,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPIRE1	TF binding region
ENSG00000267515	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000141391	chromatin interactions
ENSG00000128789	chromatin interactions

Extended variants
information (count: 1722 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1722 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370509761	chr18:12473036-12473037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553025631	chr18:12473058-12473059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373657384	chr18:12473073-12473074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575170937	chr18:12473108-12473109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545377758	chr18:12473113-12473114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35872229	chr18:12473120-12473121	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs191373882	chr18:12473146-12473147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144304127	chr18:12473210-12473211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561742494	chr18:12473253-12473254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71371262	chr18:12473307-12473308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565115334	chr18:12473308-12473309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71172088	chr18:12473313-12473314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398032013	chr18:12473319-12473320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529038890	chr18:12473320-12473321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548443797	chr18:12473328-12473329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570126981	chr18:12473344-12473345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11664232	chr18:12473352-12473353	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552585675	chr18:12473363-12473364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375951007	chr18:12473430-12473431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142298228	chr18:12473443-12473444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553654165	chr18:12473492-12473493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79146715	chr18:12473523-12473524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79516972	chr18:12473525-12473526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537110876	chr18:12473527-12473528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368315498	chr18:12473557-12473558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146299408	chr18:12473608-12473609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536036592	chr18:12473622-12473623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58959014	chr18:12473625-12473626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530805338	chr18:12473636-12473637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35750887	chr18:12473673-12473674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200298472	chr18:12473682-12473683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201515381	chr18:12473684-12473685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369456729	chr18:12473687-12473688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556812566	chr18:12473737-12473738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74377113	chr18:12473757-12473758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181465297	chr18:12473794-12473795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139764725	chr18:12473810-12473811	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554389	chr18:12473831-12473832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs9963004	chr18:12473874-12473875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562013656	chr18:12473939-12473940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144460801	chr18:12473975-12473976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114605133	chr18:12473983-12473984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146613887	chr18:12474004-12474005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs16977219	chr18:12474011-12474012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141026887	chr18:12474091-12474092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368491163	chr18:12474128-12474129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75472309	chr18:12474143-12474144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570859094	chr18:12474154-12474155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190559315	chr18:12474204-12474205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183142285	chr18:12474245-12474246	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
3	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:12449600-12477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12449800-12477600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:12449800-12477600	Weak transcription	Spleen	Spleen
8	chr18:12449800-12477800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:12449800-12478000	Weak transcription	Gastric	stomach
10	chr18:12449800-12478000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:12449800-12479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:12450000-12478200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
14	chr18:12456800-12477400	Weak transcription	Fetal Kidney	kidney
15	chr18:12457800-12477600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:12459600-12477600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12459600-12478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:12460200-12478200	Weak transcription	NH-A	brain
19	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr18:12460400-12477600	Weak transcription	Lung	lung
21	chr18:12460400-12478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:12461200-12478200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr18:12461400-12477600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:12461600-12477600	Weak transcription	Liver	Liver
27	chr18:12461800-12477600	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:12461800-12478200	Weak transcription	HepG2	liver
29	chr18:12461800-12479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:12463200-12477600	Weak transcription	NHLF	lung
31	chr18:12463400-12477000	Weak transcription	Fetal Lung	lung
32	chr18:12463400-12480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
34	chr18:12463600-12477000	Weak transcription	Placenta	Placenta
35	chr18:12464200-12474200	Weak transcription	HUVEC	blood vessel
36	chr18:12465000-12474800	Weak transcription	Osteobl	bone
37	chr18:12465000-12477600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
39	chr18:12465200-12477600	Weak transcription	Brain Germinal Matrix	brain
40	chr18:12465200-12477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:12465400-12475000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:12465400-12477000	Weak transcription	Left Ventricle	heart
43	chr18:12465400-12477000	Weak transcription	HSMMtube	muscle
44	chr18:12465400-12477600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr18:12465400-12477600	Weak transcription	Fetal Intestine Small	intestine
46	chr18:12465400-12477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:12465400-12478200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:12465600-12477200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
50	chr18:12465800-12474200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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