Variant report

Variant	nsv1063544
Chromosome Location	chr18:367107-396461
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
2	chr18:368265..370725-chr18:373319..375818,2	K562	blood:
3	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
4	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
5	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
6	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
7	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
8	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
9	chr18:369225..372078-chr18:373724..375818,2	K562	blood:
10	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
11	chr18:362806..364833-chr18:392678..394320,2	K562	blood:
12	chr18:368265..370725-chr18:373319..375818,2	K562	blood:
13	chr18:368213..370959-chr18:418636..421076,2	MCF-7	breast:
14	chr18:369225..372078-chr18:373724..375818,2	K562	blood:
15	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
16	chr18:393515..395021-chr18:401275..403491,2	K562	blood:

No data

Extended variants
information (count: 1249 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542827725	chr18:367130-367131	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557170746	chr18:367167-367168	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139340344	chr18:367208-367209	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577116858	chr18:367219-367220	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142551053	chr18:367220-367221	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188844722	chr18:367221-367222	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73356511	chr18:367268-367269	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532544448	chr18:367271-367272	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551045826	chr18:367283-367284	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569393254	chr18:367297-367298	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112433936	chr18:367303-367304	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548385360	chr18:367329-367330	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572765367	chr18:367363-367364	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541839197	chr18:367394-367395	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577664050	chr18:367418-367419	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566707368	chr18:367457-367458	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566220385	chr18:367472-367473	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146044045	chr18:367500-367501	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558824154	chr18:367519-367520	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530664261	chr18:367531-367532	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537870288	chr18:367562-367563	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112048874	chr18:367565-367566	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555805599	chr18:367585-367586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191774578	chr18:367639-367640	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574179041	chr18:367643-367644	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541552125	chr18:367657-367658	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561141475	chr18:367683-367684	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376081629	chr18:367687-367688	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370452382	chr18:367695-367696	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573422382	chr18:367722-367723	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1320665	chr18:367725-367726	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs183987810	chr18:367752-367753	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79766258	chr18:367753-367754	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148691850	chr18:367794-367795	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562900408	chr18:367826-367827	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530216818	chr18:367880-367881	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548743240	chr18:367901-367902	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189495116	chr18:367906-367907	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533996320	chr18:367917-367918	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200573575	chr18:367925-367926	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552160826	chr18:367967-367968	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201842899	chr18:368031-368032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180737089	chr18:368101-368102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3929952	chr18:368115-368116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs537782225	chr18:368140-368141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555717518	chr18:368142-368143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142198245	chr18:368202-368203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200003526	chr18:368212-368213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1274285	chr18:368215-368216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3929953	chr18:368220-368221	Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr18:361400-367600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:361600-368200	Enhancers	Fetal Lung	lung
5	chr18:362200-371400	Weak transcription	Right Atrium	heart
6	chr18:363200-371400	Weak transcription	Fetal Intestine Small	intestine
7	chr18:363200-371600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:363200-374800	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:363400-370600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:363400-371600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr18:364200-367800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:364600-368000	Enhancers	Placenta	Placenta
13	chr18:364600-370600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr18:364800-370800	Weak transcription	NHLF	lung
15	chr18:364800-374400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr18:364800-376200	Weak transcription	Brain Anterior Caudate	brain
17	chr18:365000-370600	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:365800-367200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:365800-367200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:365800-367200	Enhancers	HepG2	liver
21	chr18:365800-368000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:366000-367200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr18:366000-367400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr18:366000-367400	Weak transcription	Fetal Stomach	stomach
25	chr18:366000-367800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr18:366200-367200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:366200-367200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr18:366200-367400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr18:366400-367200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr18:366400-368600	Enhancers	Fetal Muscle Trunk	muscle
31	chr18:366400-369200	Weak transcription	Osteobl	bone
32	chr18:366600-367200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:366600-367200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:366600-369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:366600-374600	Weak transcription	Fetal Kidney	kidney
36	chr18:366800-367400	Weak transcription	NHDF-Ad	bronchial
37	chr18:366800-369600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr18:366800-371000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr18:367000-367400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr18:367000-368000	Genic enhancers	Fetal Muscle Leg	muscle
41	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:367200-368000	Enhancers	Pancreas	Pancrea
43	chr18:367200-371200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:367200-371800	Weak transcription	HepG2	liver
45	chr18:367200-376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr18:367200-376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr18:367400-367800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr18:367400-368000	Enhancers	Fetal Stomach	stomach
49	chr18:367400-368000	Enhancers	NHDF-Ad	bronchial
50	chr18:367400-376800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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