Variant report

Variant	nsv1055372
Chromosome Location	chr18:367725-396461
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	chr18:368265..370725-chr18:373319..375818,2	K562	blood:
2	chr18:369225..372078-chr18:373724..375818,2	K562	blood:
3	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
4	chr18:362806..364833-chr18:392678..394320,2	K562	blood:
5	chr18:368213..370959-chr18:418636..421076,2	MCF-7	breast:
6	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
7	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
8	chr18:368265..370725-chr18:373319..375818,2	K562	blood:
9	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
10	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
11	chr18:369225..372078-chr18:373724..375818,2	K562	blood:
12	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
13	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
14	chr18:393515..395021-chr18:401275..403491,2	K562	blood:
15	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
16	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:

No data

Extended variants
information (count: 1219 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1219 , 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	rs1320665	chr18:367725-367726	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs183987810	chr18:367752-367753	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79766258	chr18:367753-367754	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148691850	chr18:367794-367795	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562900408	chr18:367826-367827	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530216818	chr18:367880-367881	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548743240	chr18:367901-367902	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189495116	chr18:367906-367907	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533996320	chr18:367917-367918	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200573575	chr18:367925-367926	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552160826	chr18:367967-367968	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201842899	chr18:368031-368032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180737089	chr18:368101-368102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3929952	chr18:368115-368116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs537782225	chr18:368140-368141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555717518	chr18:368142-368143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142198245	chr18:368202-368203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200003526	chr18:368212-368213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1274285	chr18:368215-368216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3929953	chr18:368220-368221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573306944	chr18:368251-368252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367739067	chr18:368260-368261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541508156	chr18:368282-368283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540841312	chr18:368322-368323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187563853	chr18:368345-368346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561082330	chr18:368362-368363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1977934	chr18:368446-368447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544970335	chr18:368456-368457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1274284	chr18:368469-368470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368891108	chr18:368488-368489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147585274	chr18:368489-368490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568203467	chr18:368492-368493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560659204	chr18:368522-368523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527461307	chr18:368523-368524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552334086	chr18:368528-368529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190293409	chr18:368549-368550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371475724	chr18:368565-368566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375182276	chr18:368569-368570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369499159	chr18:368571-368572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373573007	chr18:368575-368576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531497788	chr18:368586-368587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371745580	chr18:368587-368588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549704000	chr18:368588-368589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372512890	chr18:368590-368591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537194423	chr18:368593-368594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111988158	chr18:368602-368603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565780206	chr18:368609-368610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570964399	chr18:368610-368611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570084585	chr18:368612-368613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9951376	chr18:368617-368618	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:513 , 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	chr18:361600-368200	Enhancers	Fetal Lung	lung
4	chr18:362200-371400	Weak transcription	Right Atrium	heart
5	chr18:363200-371400	Weak transcription	Fetal Intestine Small	intestine
6	chr18:363200-371600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:363200-374800	Weak transcription	Brain Hippocampus Middle	brain
8	chr18:363400-370600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:363400-371600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:364200-367800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:364600-368000	Enhancers	Placenta	Placenta
12	chr18:364600-370600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr18:364800-370800	Weak transcription	NHLF	lung
14	chr18:364800-374400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr18:364800-376200	Weak transcription	Brain Anterior Caudate	brain
16	chr18:365000-370600	Weak transcription	Colon Smooth Muscle	Colon
17	chr18:365800-368000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:366000-367800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr18:366400-368600	Enhancers	Fetal Muscle Trunk	muscle
20	chr18:366400-369200	Weak transcription	Osteobl	bone
21	chr18:366600-369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:366600-374600	Weak transcription	Fetal Kidney	kidney
23	chr18:366800-369600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr18:366800-371000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr18:367000-368000	Genic enhancers	Fetal Muscle Leg	muscle
26	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:367200-368000	Enhancers	Pancreas	Pancrea
28	chr18:367200-371200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr18:367200-371800	Weak transcription	HepG2	liver
30	chr18:367200-376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:367200-376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr18:367400-367800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr18:367400-368000	Enhancers	Fetal Stomach	stomach
34	chr18:367400-368000	Enhancers	NHDF-Ad	bronchial
35	chr18:367400-376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:367600-369600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:367800-370800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:368000-369000	Weak transcription	NHDF-Ad	bronchial
39	chr18:368000-370000	Weak transcription	Fetal Stomach	stomach
40	chr18:368000-370600	Weak transcription	Fetal Muscle Leg	muscle
41	chr18:368000-370600	Weak transcription	Placenta	Placenta
42	chr18:368000-370600	Weak transcription	Pancreas	Pancrea
43	chr18:368000-371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:368200-368600	Weak transcription	Fetal Lung	lung
45	chr18:368600-370600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr18:368600-370800	Enhancers	Fetal Lung	lung
47	chr18:369000-369400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:369000-371600	Enhancers	NHDF-Ad	bronchial
49	chr18:369000-372200	Enhancers	Primary B cells from peripheral blood	blood
50	chr18:369200-370000	Enhancers	Osteobl	bone

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