Variant report

Variant	nsv1066337
Chromosome Location	chr18:375021-442441
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	chr18:413324-413583	K562	blood:	n/a	n/a
2	BACH1	chr18:413378-413552	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr18:426998-427439	GM12878	blood:	n/a	chr18:427049-427058
4	CBX3	chr18:437366-437570	K562	blood:	n/a	n/a
5	CEBPB	chr18:434427-434643	K562	blood:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
6	CEBPB	chr18:400529-400822	IMR90	lung:	n/a	chr18:400567-400578
7	CEBPB	chr18:434477-434712	K562	blood:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
8	CEBPB	chr18:434421-434730	MCF-7	breast:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
9	CEBPB	chr18:434573-434599	A549	lung:	n/a	n/a
10	CEBPB	chr18:434530-434700	HepG2	liver:	n/a	chr18:434624-434635 chr18:434622-434639
11	CEBPB	chr18:434618-434625	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr18:434520-434759	H1-hESC	embryonic stem cell:	n/a	chr18:434624-434635 chr18:434622-434639
13	CEBPB	chr18:400522-400833	K562	blood:	n/a	chr18:400567-400578
14	CEBPB	chr18:434329-434916	HCT-116	colon:	n/a	chr18:434624-434635 chr18:434622-434639 chr18:434500-434513
15	CEBPD	chr18:419491-419898	K562	blood:	n/a	n/a
16	CTCF	chr18:390060-390210	HPAF	blood vessel:	n/a	chr18:390150-390159
17	CTCF	chr18:390060-390210	GM12871	blood:	n/a	chr18:390150-390159
18	CTCF	chr18:390100-390250	HA-sp	spinal cord:	n/a	chr18:390150-390159
19	CTCF	chr18:390080-390230	BJ	skin:	n/a	chr18:390150-390159
20	CTCF	chr18:390060-390210	GM12875	blood:	n/a	chr18:390150-390159
21	CTCF	chr18:390040-390190	GM06990	blood:	n/a	chr18:390150-390159
22	CTCF	chr18:390060-390210	HRPEpiC	eye:	n/a	chr18:390150-390159
23	CTCF	chr18:389556-389607	GM20000	blood:	n/a	n/a
24	CTCF	chr18:390060-390210	GM12866	blood:	n/a	chr18:390150-390159
25	CTCF	chr18:390040-390190	AG04450	lung:	n/a	chr18:390150-390159
26	CTCF	chr18:390060-390210	HEK293	kidney:	n/a	chr18:390150-390159
27	CTCF	chr18:390111-390174	Gliobla	brain:	n/a	chr18:390150-390159
28	CTCF	chr18:389980-390130	WI-38	lung:	n/a	n/a
29	CTCF	chr18:390140-390290	GM12870	blood:	n/a	chr18:390150-390159
30	CTCF	chr18:390080-390230	WERI-Rb-1	eye:	n/a	chr18:390150-390159
31	CTCF	chr18:390040-390190	HUVEC	blood vessel:	n/a	chr18:390150-390159
32	CTCF	chr18:390220-390370	HFF	foreskin:	n/a	n/a
33	CTCF	chr18:390020-390170	BJ	skin:	n/a	chr18:390150-390159
34	CTCF	chr18:390062-390243	MCF-7	breast:	n/a	chr18:390150-390159
35	CTCF	chr18:390080-390230	K562	blood:	n/a	chr18:390150-390159
36	CTCF	chr18:390000-390150	HCT-116	colon:	n/a	n/a
37	CTCF	chr18:390072-390236	MCF-7	breast:	n/a	chr18:390150-390159
38	CTCF	chr18:390020-390170	AG10803	skin:	n/a	chr18:390150-390159
39	CTCF	chr18:390000-390150	GM12864	blood:	n/a	n/a
40	CTCF	chr18:390020-390170	HPF	lung:	n/a	chr18:390150-390159
41	CTCF	chr18:375200-375350	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr18:390040-390190	HPAF	blood vessel:	n/a	chr18:390150-390159
43	CTCF	chr18:389960-390110	HCT-116	colon:	n/a	n/a
44	CTCF	chr18:390040-390190	HVMF	connective:	n/a	chr18:390150-390159
45	CTCF	chr18:434842-434971	HepG2	liver:	n/a	n/a
46	CTCF	chr18:390040-390190	K562	blood:	n/a	chr18:390150-390159
47	CTCF	chr18:390093-390214	GM19240	blood:	n/a	chr18:390150-390159
48	CTCF	chr18:390066-390204	HepG2	liver:	n/a	chr18:390150-390159
49	CTCF	chr18:390060-390210	GM12873	blood:	n/a	chr18:390150-390159
50	CTCF	chr18:390040-390190	WERI-Rb-1	eye:	n/a	chr18:390150-390159

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

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

Variant related genes	Relation type
ENSG00000265477	TF binding region

Extended variants
information (count: 2771 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2771 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12458576	chr18:375021-375022	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147212680	chr18:375023-375024	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191112885	chr18:375024-375025	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138685963	chr18:375044-375045	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558795747	chr18:375165-375166	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs538980320	chr18:375197-375198	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs367717716	chr18:375237-375238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184753786	chr18:375239-375240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189249083	chr18:375249-375250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542311045	chr18:375250-375251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371945061	chr18:375262-375263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9951972	chr18:375289-375290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574115877	chr18:375308-375309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75011921	chr18:375310-375311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545373101	chr18:375311-375312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554252515	chr18:375353-375354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369854104	chr18:375380-375381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368222204	chr18:375383-375384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574132208	chr18:375390-375391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559547528	chr18:375406-375407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543151423	chr18:375419-375420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73356532	chr18:375420-375421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117700202	chr18:375426-375427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11081063	chr18:375463-375464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181659341	chr18:375464-375465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549175605	chr18:375521-375522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567733850	chr18:375545-375546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535151867	chr18:375546-375547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375221160	chr18:375560-375561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369373088	chr18:375584-375585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56947113	chr18:375600-375601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571506549	chr18:375601-375602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369826287	chr18:375651-375652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538893635	chr18:375658-375659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557296002	chr18:375692-375693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545300788	chr18:375727-375728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575101078	chr18:375756-375757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149893720	chr18:375780-375781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185138432	chr18:375785-375786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73356533	chr18:375797-375798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77828039	chr18:375829-375830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74457616	chr18:375830-375831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80052789	chr18:375831-375832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77943335	chr18:375832-375833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1573316	chr18:375841-375842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559482194	chr18:375853-375854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80006428	chr18:375858-375859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139666424	chr18:375898-375899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190039612	chr18:375902-375903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577346787	chr18:376019-376020	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:1031 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:364800-376200	Weak transcription	Brain Anterior Caudate	brain
2	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:367200-376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:367200-376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:367400-376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:369600-382600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr18:370600-376200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr18:370800-377400	Weak transcription	Colonic Mucosa	Colon
9	chr18:370800-383600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:371200-376600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:372000-375200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:372000-379000	Enhancers	NHDF-Ad	bronchial
13	chr18:372200-376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:372200-377200	Weak transcription	Esophagus	oesophagus
15	chr18:372400-377400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:373000-379000	Enhancers	Rectal Smooth Muscle	rectum
17	chr18:373200-380800	Enhancers	Fetal Muscle Leg	muscle
18	chr18:373600-378800	Enhancers	Fetal Stomach	stomach
19	chr18:373800-377600	Enhancers	Fetal Lung	lung
20	chr18:373800-379200	Enhancers	Pancreas	Pancrea
21	chr18:373800-380800	Enhancers	Adipose Nuclei	Adipose
22	chr18:374000-378200	Enhancers	Colon Smooth Muscle	Colon
23	chr18:374000-378800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr18:374200-376600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr18:374200-377000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:374400-375200	Enhancers	Primary B cells from cord blood	blood
27	chr18:374400-375200	Enhancers	GM12878-XiMat	blood
28	chr18:374400-375400	Enhancers	Primary B cells from peripheral blood	blood
29	chr18:374400-375400	Enhancers	Placenta	Placenta
30	chr18:374400-375400	Enhancers	Left Ventricle	heart
31	chr18:374400-375600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:374400-377000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:374400-377400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:374400-377400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr18:374400-378400	Enhancers	Stomach Smooth Muscle	stomach
36	chr18:374600-375200	Enhancers	Primary hematopoietic stem cells	blood
37	chr18:374600-375200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr18:374600-375800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:374600-376200	Enhancers	Right Atrium	heart
40	chr18:374800-375200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr18:374800-375200	Active TSS	Fetal Brain Male	brain
42	chr18:374800-375400	Enhancers	Brain Hippocampus Middle	brain
43	chr18:374800-375400	Enhancers	Brain Substantia Nigra	brain
44	chr18:374800-375400	Enhancers	Lung	lung
45	chr18:374800-375400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr18:374800-375600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr18:375000-375200	Enhancers	Gastric	stomach
48	chr18:375000-375400	Enhancers	Fetal Intestine Large	intestine
49	chr18:375000-375400	Enhancers	Right Ventricle	heart
50	chr18:375000-375400	Enhancers	Sigmoid Colon	Sigmoid Colon

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