Variant report

Variant	nsv1065408
Chromosome Location	chr18:374343-436097
allele	n/a
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	BACH1	chr18:413378-413552	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr18:413324-413583	K562	blood:	n/a	n/a
3	BCL3	chr18:426998-427439	GM12878	blood:	n/a	chr18:427049-427058
4	CEBPB	chr18:400522-400833	K562	blood:	n/a	chr18:400567-400578
5	CEBPB	chr18:434530-434700	HepG2	liver:	n/a	chr18:434624-434635 chr18:434622-434639
6	CEBPB	chr18:434477-434712	K562	blood:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
7	CEBPB	chr18:434520-434759	H1-hESC	embryonic stem cell:	n/a	chr18:434624-434635 chr18:434622-434639
8	CEBPB	chr18:400529-400822	IMR90	lung:	n/a	chr18:400567-400578
9	CEBPB	chr18:434421-434730	MCF-7	breast:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
10	CEBPB	chr18:434573-434599	A549	lung:	n/a	n/a
11	CEBPB	chr18:434618-434625	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr18:434329-434916	HCT-116	colon:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
13	CEBPB	chr18:434427-434643	K562	blood:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
14	CEBPD	chr18:419491-419898	K562	blood:	n/a	n/a
15	CTCF	chr18:375200-375350	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr18:390040-390190	Hela-S3	cervix:	n/a	chr18:390150-390159
17	CTCF	chr18:390080-390230	WERI-Rb-1	eye:	n/a	chr18:390150-390159
18	CTCF	chr18:390020-390170	GM12872	blood:	n/a	chr18:390150-390159
19	CTCF	chr18:390061-390216	HepG2	liver:	n/a	chr18:390150-390159
20	CTCF	chr18:390066-390204	HepG2	liver:	n/a	chr18:390150-390159
21	CTCF	chr18:390040-390190	BE2_C	brain:	n/a	chr18:390150-390159
22	CTCF	chr18:390080-390230	RPTEC	kidney:	n/a	chr18:390150-390159
23	CTCF	chr18:429822-429889	K562	blood:	n/a	n/a
24	CTCF	chr18:390100-390250	HepG2	liver:	n/a	chr18:390150-390159
25	CTCF	chr18:390130-390154	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr18:390060-390210	GM12864	blood:	n/a	chr18:390150-390159
27	CTCF	chr18:389960-390110	HCT-116	colon:	n/a	n/a
28	CTCF	chr18:434899-434916	LNCaP	prostate:	n/a	n/a
29	CTCF	chr18:390060-390210	NB4	blood:	n/a	chr18:390150-390159
30	CTCF	chr18:390040-390190	WERI-Rb-1	eye:	n/a	chr18:390150-390159
31	CTCF	chr18:390000-390150	GM12864	blood:	n/a	n/a
32	CTCF	chr18:390080-390230	AG10803	skin:	n/a	chr18:390150-390159
33	CTCF	chr18:390067-390223	HUVEC	blood vessel:	n/a	chr18:390150-390159
34	CTCF	chr18:390068-390244	MCF-7	breast:	n/a	chr18:390150-390159
35	CTCF	chr18:390120-390270	GM12868	blood:	n/a	chr18:390150-390159
36	CTCF	chr18:390080-390230	GM12864	blood:	n/a	chr18:390150-390159
37	CTCF	chr18:390060-390210	AoAF	blood vessel:	n/a	chr18:390150-390159
38	CTCF	chr18:390080-390230	BJ	skin:	n/a	chr18:390150-390159
39	CTCF	chr18:390040-390190	K562	blood:	n/a	chr18:390150-390159
40	CTCF	chr18:390140-390290	GM12870	blood:	n/a	chr18:390150-390159
41	CTCF	chr18:434820-434970	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr18:390060-390210	AG04449	skin:	n/a	chr18:390150-390159
43	CTCF	chr18:390060-390210	GM12873	blood:	n/a	chr18:390150-390159
44	CTCF	chr18:390000-390150	NHLF	lung:	n/a	n/a
45	CTCF	chr18:390020-390170	AG04449	skin:	n/a	chr18:390150-390159
46	CTCF	chr18:390040-390190	HPAF	blood vessel:	n/a	chr18:390150-390159
47	CTCF	chr18:390040-390310	GM12867	blood:	n/a	chr18:390150-390159
48	CTCF	chr18:390080-390230	K562	blood:	n/a	chr18:390150-390159
49	CTCF	chr18:390040-390190	AG04450	lung:	n/a	chr18:390150-390159
50	CTCF	chr18:390020-390170	GM12867	blood:	n/a	chr18:390150-390159

No.	Distal block	Cell Line	Cell type
1	chr18:393515..395021-chr18:401275..403491,2	K562	blood:
2	chr18:369225..372078-chr18:373724..375818,2	K562	blood:
3	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
4	chr18:368213..370959-chr18:418636..421076,2	MCF-7	breast:
5	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
6	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
7	chr18:393515..395021-chr18:401275..403491,2	K562	blood:
8	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
9	chr18:398278..401003-chr18:448544..450699,2	MCF-7	breast:
10	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
11	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
12	chr18:368265..370725-chr18:373319..375818,2	K562	blood:
13	chr18:401348..404320-chr18:415825..418270,2	K562	blood:
14	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
15	chr18:362806..364833-chr18:392678..394320,2	K562	blood:
16	chr18:430696..433209-chr18:436422..438436,2	K562	blood:
17	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
18	chr18:433481..436206-chr18:438471..440788,2	MCF-7	breast:
19	chr18:401348..404320-chr18:415825..418270,2	K562	blood:
20	chr18:373442..375390-chr18:380419..383065,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THOC1-1	chr18:424276-424416	ENSG00000265477.1
2	lnc-THOC1-1	chr18:423744-424056	ENSG00000265477.1

Variant related genes	Relation type
ENSG00000265477	TF binding region

Extended variants
information (count: 2523 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2523 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55844407	chr18:374350-374351	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552065466	chr18:374351-374352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565686883	chr18:374360-374361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531694780	chr18:374395-374396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57116141	chr18:374405-374406	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547110931	chr18:374416-374417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201361050	chr18:374440-374441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537600160	chr18:374469-374470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555266114	chr18:374472-374473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573792562	chr18:374491-374492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371615013	chr18:374519-374520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182956522	chr18:374528-374529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11081060	chr18:374576-374577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577678834	chr18:374583-374584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58359672	chr18:374592-374593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56800181	chr18:374645-374646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367547224	chr18:374682-374683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188394756	chr18:374684-374685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148023914	chr18:374687-374688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192675256	chr18:374710-374711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542746592	chr18:374761-374762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184660430	chr18:374775-374776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529490065	chr18:374778-374779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187597686	chr18:374807-374808	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143750080	chr18:374830-374831	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs533477834	chr18:374857-374858	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551360638	chr18:374869-374870	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs569758570	chr18:374939-374940	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549526210	chr18:374955-374956	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549462527	chr18:374990-374991	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12458576	chr18:375021-375022	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147212680	chr18:375023-375024	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191112885	chr18:375024-375025	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138685963	chr18:375044-375045	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558795747	chr18:375165-375166	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538980320	chr18:375197-375198	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs367717716	chr18:375237-375238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184753786	chr18:375239-375240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189249083	chr18:375249-375250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542311045	chr18:375250-375251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371945061	chr18:375262-375263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9951972	chr18:375289-375290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574115877	chr18:375308-375309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75011921	chr18:375310-375311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545373101	chr18:375311-375312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554252515	chr18:375353-375354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369854104	chr18:375380-375381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368222204	chr18:375383-375384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574132208	chr18:375390-375391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559547528	chr18:375406-375407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:347200-374800	Weak transcription	Lung	lung
2	chr18:363200-374800	Weak transcription	Brain Hippocampus Middle	brain
3	chr18:364800-374400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr18:364800-376200	Weak transcription	Brain Anterior Caudate	brain
5	chr18:366600-374600	Weak transcription	Fetal Kidney	kidney
6	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:367200-376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:367200-376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:367400-376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr18:369600-382600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:370600-376200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr18:370800-377400	Weak transcription	Colonic Mucosa	Colon
13	chr18:370800-383600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:371200-374800	Weak transcription	Fetal Brain Male	brain
15	chr18:371200-376600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:371600-374800	Weak transcription	Brain Substantia Nigra	brain
17	chr18:371800-374600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:372000-375000	Weak transcription	HepG2	liver
19	chr18:372000-375200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:372000-379000	Enhancers	NHDF-Ad	bronchial
21	chr18:372200-374400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr18:372200-374400	Weak transcription	Placenta	Placenta
23	chr18:372200-374400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:372200-374600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:372200-374600	Weak transcription	Right Atrium	heart
26	chr18:372200-375000	Weak transcription	Right Ventricle	heart
27	chr18:372200-376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:372200-377200	Weak transcription	Esophagus	oesophagus
29	chr18:372400-377400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:372800-375000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr18:373000-374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:373000-374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr18:373000-379000	Enhancers	Rectal Smooth Muscle	rectum
34	chr18:373200-380800	Enhancers	Fetal Muscle Leg	muscle
35	chr18:373600-378800	Enhancers	Fetal Stomach	stomach
36	chr18:373800-374600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:373800-377600	Enhancers	Fetal Lung	lung
38	chr18:373800-379200	Enhancers	Pancreas	Pancrea
39	chr18:373800-380800	Enhancers	Adipose Nuclei	Adipose
40	chr18:374000-378200	Enhancers	Colon Smooth Muscle	Colon
41	chr18:374000-378800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr18:374200-376600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr18:374200-377000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:374400-374600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr18:374400-375000	Enhancers	HSMMtube	muscle
46	chr18:374400-375200	Enhancers	Primary B cells from cord blood	blood
47	chr18:374400-375200	Enhancers	GM12878-XiMat	blood
48	chr18:374400-375400	Enhancers	Primary B cells from peripheral blood	blood
49	chr18:374400-375400	Enhancers	Placenta	Placenta
50	chr18:374400-375400	Enhancers	Left Ventricle	heart

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