Variant report

Variant	nsv978600
Chromosome Location	chr18:9674589-9684440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:444)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:9683339-9683651	K562	blood:	n/a	n/a
2	ARID3A	chr18:9683342-9683695	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:9683964-9684466	K562	blood:	n/a	n/a
4	ARID3A	chr18:9681184-9681707	K562	blood:	n/a	n/a
5	ATF1	chr18:9681188-9681607	K562	blood:	n/a	n/a
6	ATF3	chr18:9681204-9681437	K562	blood:	n/a	n/a
7	BACH1	chr18:9681284-9681578	K562	blood:	n/a	n/a
8	BHLHE40	chr18:9683905-9684357	K562	blood:	n/a	n/a
9	BHLHE40	chr18:9681197-9681571	K562	blood:	n/a	n/a
10	CBX3	chr18:9683415-9684428	K562	blood:	n/a	n/a
11	CEBPB	chr18:9684059-9684414	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr18:9675458-9675649	HepG2	liver:	n/a	chr18:9675489-9675500
13	CEBPB	chr18:9681327-9681480	K562	blood:	n/a	n/a
14	CEBPB	chr18:9684117-9684377	K562	blood:	n/a	n/a
15	CEBPB	chr18:9682876-9683037	K562	blood:	n/a	n/a
16	CEBPB	chr18:9682765-9682953	HepG2	liver:	n/a	n/a
17	CEBPB	chr18:9675452-9675536	K562	blood:	n/a	chr18:9675489-9675500
18	CHD2	chr18:9683999-9684392	K562	blood:	n/a	n/a
19	CTCF	chr18:9684080-9684230	GM12869	blood:	n/a	n/a
20	CTCF	chr18:9683480-9683630	AG10803	skin:	n/a	n/a
21	CTCF	chr18:9684140-9684290	AG04449	skin:	n/a	n/a
22	CTCF	chr18:9683460-9683610	SAEC	small airway:	n/a	n/a
23	CTCF	chr18:9684122-9684306	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr18:9683500-9683650	HEK293	kidney:	n/a	n/a
25	CTCF	chr18:9674440-9674590	AG09309	skin:	n/a	chr18:9674441-9674454
26	CTCF	chr18:9684073-9684431	MCF-7	breast:	n/a	chr18:9684405-9684426
27	CTCF	chr18:9684080-9684230	HAc	cerebellar:	n/a	n/a
28	CTCF	chr18:9684052-9684406	K562	blood:	n/a	n/a
29	CTCF	chr18:9684100-9684250	HCFaa	heart:	n/a	n/a
30	CTCF	chr18:9684140-9684290	GM12865	blood:	n/a	n/a
31	CTCF	chr18:9684124-9684271	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr18:9684080-9684230	GM12874	blood:	n/a	n/a
33	CTCF	chr18:9684147-9684263	LNCaP	prostate:	n/a	n/a
34	CTCF	chr18:9674316-9674611	K562	blood:	n/a	chr18:9674441-9674454
35	CTCF	chr18:9683437-9683684	A549	lung:	n/a	n/a
36	CTCF	chr18:9684060-9684210	GM12870	blood:	n/a	n/a
37	CTCF	chr18:9684100-9684250	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr18:9683520-9683670	K562	blood:	n/a	n/a
39	CTCF	chr18:9683368-9684399	IMR90	lung:	n/a	n/a
40	CTCF	chr18:9683473-9683616	HepG2	liver:	n/a	n/a
41	CTCF	chr18:9683981-9684349	K562	blood:	n/a	n/a
42	CTCF	chr18:9684100-9684250	K562	blood:	n/a	n/a
43	CTCF	chr18:9683600-9683750	HCM	heart:	n/a	n/a
44	CTCF	chr18:9684112-9684309	GM12878	blood:	n/a	n/a
45	CTCF	chr18:9683420-9683570	HMEC	breast:	n/a	n/a
46	CTCF	chr18:9684100-9684250	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr18:9684111-9684314	HepG2	liver:	n/a	n/a
48	CTCF	chr18:9684120-9684270	AG09319	gingival:	n/a	n/a
49	CTCF	chr18:9683420-9683570	HMF	breast:	n/a	n/a
50	CTCF	chr18:9683520-9683670	HCT-116	colon:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9674934..9676991-chr18:9682664..9686574,3	K562	blood:
2	chr18:9674934..9676991-chr18:9682664..9686574,3	K562	blood:
3	chr18:9570568..9573033-chr18:9681202..9682731,2	K562	blood:
4	chr18:9683815..9684352-chr18:9707553..9708356,2	MCF-7	breast:
5	chr18:9683599..9684594-chr18:9771436..9772119,2	MCF-7	breast:
6	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
7	chr18:9573929..9576042-chr18:9682222..9683938,2	K562	blood:
8	chr18:9671775..9674338-chr18:9683094..9685173,2	K562	blood:
9	chr18:9670935..9675283-chr18:9677129..9681931,4	K562	blood:
10	chr18:9613087..9615055-chr18:9684050..9685628,2	K562	blood:
11	chr18:9681462..9684349-chr18:9706806..9709223,3	K562	blood:
12	chr18:9612231..9612794-chr18:9683319..9684221,2	MCF-7	breast:
13	chr18:9683705..9684579-chr18:9771203..9771714,2	K562	blood:
14	chr18:9684157..9686085-chr18:9706260..9708212,2	K562	blood:
15	chr18:9610770..9614979-chr18:9672273..9674769,4	MCF-7	breast:
16	chr18:9682384..9686964-chr18:9702727..9705542,5	K562	blood:
17	chr18:9684035..9684686-chr18:9792389..9793128,3	MCF-7	breast:
18	chr18:9680241..9682943-chr18:9684125..9686562,3	K562	blood:
19	chr18:9683610..9686483-chr18:9914040..9915695,2	MCF-7	breast:
20	chr18:9681611..9683915-chr18:9818269..9820001,2	K562	blood:
21	chr18:9613080..9618986-chr18:9672487..9675941,11	MCF-7	breast:
22	chr18:9683630..9684718-chr18:9722339..9723080,6	MCF-7	breast:
23	chr18:9613273..9615499-chr18:9682268..9685190,2	MCF-7	breast:
24	chr18:9610247..9612763-chr18:9683592..9685519,2	K562	blood:
25	chr18:9677449..9679645-chr18:9682253..9684229,2	K562	blood:
26	chr18:9671290..9675239-chr18:9678368..9680804,3	MCF-7	breast:
27	chr18:9683624..9684702-chr18:9722383..9723368,6	MCF-7	breast:
28	chr18:9680525..9686114-chr18:9707690..9711025,4	MCF-7	breast:
29	chr18:9680241..9682943-chr18:9684125..9686562,3	K562	blood:
30	chr18:9679137..9682962-chr18:9706802..9710430,4	K562	blood:
31	chr18:9575357..9576099-chr18:9683070..9683881,4	MCF-7	breast:
32	chr18:9682935..9686268-chr18:9874817..9878782,4	K562	blood:
33	chr18:9684225..9686490-chr18:9771447..9773237,2	K562	blood:

No data

Variant related genes	Relation type
KRT18P8	TF binding region
ENSG00000264644	chromatin interactions
ENSG00000154845	chromatin interactions
ENSG00000212572	chromatin interactions
ENSG00000263627	chromatin interactions
ENSG00000168461	chromatin interactions
ENSG00000101558	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574494089	chr18:9674607-9674608	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs138279493	chr18:9674620-9674621	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs142728906	chr18:9674658-9674659	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs75956678	chr18:9674665-9674666	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs546965536	chr18:9674678-9674679	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs185766862	chr18:9674734-9674735	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs369998479	chr18:9674749-9674750	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs528499457	chr18:9674753-9674754	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190819984	chr18:9674792-9674793	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs147378688	chr18:9674800-9674801	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs62078868	chr18:9674859-9674860	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554151953	chr18:9674879-9674880	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs567119108	chr18:9674880-9674881	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs567505936	chr18:9674905-9674906	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs181844775	chr18:9674912-9674913	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs530684847	chr18:9674989-9674990	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs138057093	chr18:9675023-9675024	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs570069461	chr18:9675043-9675044	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs118031649	chr18:9675101-9675102	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs575919183	chr18:9675113-9675114	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs552735350	chr18:9675151-9675152	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs568132767	chr18:9675152-9675153	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs544839636	chr18:9675157-9675158	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs9953380	chr18:9675192-9675193	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557495398	chr18:9675204-9675205	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs75420741	chr18:9675205-9675206	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs185996782	chr18:9675225-9675226	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs572131239	chr18:9675233-9675234	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs75673027	chr18:9675254-9675255	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs558485986	chr18:9675262-9675263	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs79804844	chr18:9675264-9675265	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs373558313	chr18:9675274-9675275	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs2187080	chr18:9675334-9675335	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs11874459	chr18:9675340-9675341	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561966353	chr18:9675359-9675360	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs529357973	chr18:9675369-9675370	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs544397932	chr18:9675371-9675372	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs190405659	chr18:9675393-9675394	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs72953430	chr18:9675418-9675419	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs552002444	chr18:9675422-9675423	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs141524582	chr18:9675423-9675424	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185523651	chr18:9675429-9675430	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201826951	chr18:9675434-9675435	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs546555087	chr18:9675442-9675443	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs635209	chr18:9675443-9675444	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs11876560	chr18:9675455-9675456	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535492696	chr18:9675463-9675464	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs191005490	chr18:9675475-9675476	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs606910	chr18:9675478-9675479	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540028152	chr18:9675483-9675484	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9659800-9685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9671200-9675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:9671200-9675200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr18:9672800-9674600	Enhancers	Fetal Intestine Small	intestine
5	chr18:9672800-9674600	Enhancers	GM12878-XiMat	blood
6	chr18:9672800-9674800	Enhancers	Stomach Mucosa	stomach
7	chr18:9673400-9674600	Enhancers	HSMM	muscle
8	chr18:9673400-9674800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:9673800-9674800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:9673800-9674800	Enhancers	HMEC	breast
11	chr18:9673800-9675000	Weak transcription	Aorta	Aorta
12	chr18:9673800-9675000	Weak transcription	Fetal Muscle Leg	muscle
13	chr18:9673800-9675200	Enhancers	HepG2	liver
14	chr18:9673800-9675400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr18:9673800-9681200	Weak transcription	K562	blood
16	chr18:9673800-9685000	Weak transcription	Spleen	Spleen
17	chr18:9674000-9674800	Enhancers	NHEK	skin
18	chr18:9674000-9675000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:9674200-9674600	Enhancers	Hela-S3	cervix
20	chr18:9674200-9675000	Weak transcription	Placenta	Placenta
21	chr18:9674200-9676000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr18:9674200-9679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:9674400-9675000	Weak transcription	Pancreas	Pancrea
24	chr18:9674400-9675000	Enhancers	A549	lung
25	chr18:9674600-9675200	Enhancers	HSMMtube	muscle
26	chr18:9674800-9675200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:9674800-9675200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr18:9675000-9675200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr18:9675000-9675200	Enhancers	Aorta	Aorta
30	chr18:9675000-9675200	Enhancers	Fetal Muscle Leg	muscle
31	chr18:9675000-9675200	Enhancers	Placenta	Placenta
32	chr18:9675000-9675200	Enhancers	Pancreas	Pancrea
33	chr18:9675000-9675200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr18:9678400-9678600	Enhancers	Esophagus	oesophagus
35	chr18:9681200-9682000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr18:9681200-9682400	Enhancers	K562	blood
37	chr18:9682000-9683400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr18:9682400-9683400	Weak transcription	K562	blood
39	chr18:9683000-9683400	Enhancers	A549	lung
40	chr18:9683000-9685800	Enhancers	Hela-S3	cervix
41	chr18:9683200-9683400	Weak transcription	HSMMtube	muscle
42	chr18:9683200-9683400	Enhancers	Osteobl	bone
43	chr18:9683200-9683600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:9683200-9683800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:9683200-9684200	Enhancers	Stomach Mucosa	stomach
46	chr18:9683200-9684400	Enhancers	NHDF-Ad	bronchial
47	chr18:9683200-9685600	Enhancers	NH-A	brain
48	chr18:9683400-9683600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr18:9683400-9683600	Enhancers	HSMMtube	muscle
50	chr18:9683400-9683600	Enhancers	K562	blood

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