Variant report

Variant	nsv1065827
Chromosome Location	chr18:371695-408082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1493 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1493 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138087007	chr18:371703-371704	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs573460868	chr18:371856-371857	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540614480	chr18:371870-371871	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12967381	chr18:371902-371903	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532558040	chr18:371934-371935	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544691755	chr18:371941-371942	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs674093	chr18:371976-371977	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530172802	chr18:372021-372022	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371374018	chr18:372022-372023	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12967313	chr18:372041-372042	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566598071	chr18:372071-372072	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs143685981	chr18:372072-372073	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs147143822	chr18:372094-372095	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537468787	chr18:372104-372105	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532088592	chr18:372119-372120	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555803642	chr18:372124-372125	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140266542	chr18:372138-372139	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373053136	chr18:372156-372157	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535224447	chr18:372157-372158	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181858112	chr18:372237-372238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573395891	chr18:372262-372263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186067112	chr18:372263-372264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559294153	chr18:372418-372419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188964248	chr18:372429-372430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544603845	chr18:372440-372441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562902049	chr18:372470-372471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530211366	chr18:372478-372479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541999708	chr18:372489-372490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560253408	chr18:372513-372514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144332208	chr18:372533-372534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552026924	chr18:372632-372633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570429019	chr18:372665-372666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs604164	chr18:372669-372670	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549344691	chr18:372670-372671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs687656	chr18:372683-372684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142402412	chr18:372684-372685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181409070	chr18:372716-372717	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567006886	chr18:372726-372727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534411743	chr18:372728-372729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116464211	chr18:372821-372822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186696547	chr18:372822-372823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556513039	chr18:372825-372826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs8083599	chr18:372837-372838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542263413	chr18:372853-372854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567049654	chr18:372967-372968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200438541	chr18:373006-373007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75663680	chr18:373036-373037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572170323	chr18:373059-373060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545576382	chr18:373121-373122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563967659	chr18:373135-373136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:347200-374800	Weak transcription	Lung	lung
2	chr18:361000-372400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:363200-374800	Weak transcription	Brain Hippocampus Middle	brain
4	chr18:364800-374400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:364800-376200	Weak transcription	Brain Anterior Caudate	brain
6	chr18:366600-374600	Weak transcription	Fetal Kidney	kidney
7	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:367200-371800	Weak transcription	HepG2	liver
9	chr18:367200-376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr18:367200-376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:367400-376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:369000-372200	Enhancers	Primary B cells from peripheral blood	blood
13	chr18:369600-382600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr18:369800-372400	Enhancers	Primary B cells from cord blood	blood
15	chr18:370000-372200	Enhancers	Fetal Stomach	stomach
16	chr18:370400-372000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:370400-372200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr18:370600-371800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:370600-372000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr18:370600-372200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr18:370600-372200	Enhancers	Fetal Muscle Leg	muscle
22	chr18:370600-372200	Enhancers	Placenta	Placenta
23	chr18:370600-372200	Enhancers	Pancreas	Pancrea
24	chr18:370600-372200	Enhancers	Rectal Smooth Muscle	rectum
25	chr18:370600-373000	Enhancers	Colon Smooth Muscle	Colon
26	chr18:370600-376200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr18:370800-372000	Enhancers	NHLF	lung
28	chr18:370800-372200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:370800-377400	Weak transcription	Colonic Mucosa	Colon
30	chr18:370800-383600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:371000-372200	Enhancers	Fetal Heart	heart
32	chr18:371000-373000	Enhancers	Adipose Nuclei	Adipose
33	chr18:371200-372000	Weak transcription	Right Ventricle	heart
34	chr18:371200-372400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr18:371200-374200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr18:371200-374800	Weak transcription	Fetal Brain Male	brain
37	chr18:371200-376600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr18:371400-371800	Enhancers	Fetal Lung	lung
39	chr18:371400-372000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:371400-372000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr18:371400-372200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr18:371400-372200	Enhancers	Esophagus	oesophagus
43	chr18:371400-372200	Enhancers	Right Atrium	heart
44	chr18:371400-372800	Enhancers	Fetal Muscle Trunk	muscle
45	chr18:371600-371800	Active TSS	Stomach Smooth Muscle	stomach
46	chr18:371600-372000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:371600-372000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr18:371600-372000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr18:371600-374800	Weak transcription	Brain Substantia Nigra	brain
50	chr18:371800-372000	Flanking Active TSS	Fetal Lung	lung

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