Variant report

Variant	nsv909291
Chromosome Location	chr18:379749-398147
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
2	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
3	chr18:393515..395021-chr18:401275..403491,2	K562	blood:
4	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
5	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
6	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
7	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
8	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
9	chr18:362806..364833-chr18:392678..394320,2	K562	blood:
10	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:

No data

Extended variants
information (count: 721 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11081065	chr18:379749-379750	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs55663637	chr18:379795-379796	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576254462	chr18:379804-379805	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543739905	chr18:379818-379819	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184868205	chr18:379834-379835	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528898256	chr18:379852-379853	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9947046	chr18:379855-379856	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563137416	chr18:379873-379874	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559476829	chr18:379910-379911	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs72859257	chr18:379936-379937	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552801397	chr18:379940-379941	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs180991171	chr18:379941-379942	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370072492	chr18:379985-379986	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531873278	chr18:379989-379990	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550455636	chr18:380079-380080	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559469350	chr18:380097-380098	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568333943	chr18:380122-380123	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535471530	chr18:380150-380151	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547419742	chr18:380168-380169	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74852589	chr18:380185-380186	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548438309	chr18:380200-380201	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185276182	chr18:380201-380202	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557658015	chr18:380211-380212	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9951160	chr18:380325-380326	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530873266	chr18:380326-380327	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs191213949	chr18:380333-380334	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555650756	chr18:380354-380355	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112016829	chr18:380445-380446	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182126300	chr18:380456-380457	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs199591294	chr18:380488-380489	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs386386807	chr18:380491-380492	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78165692	chr18:380493-380494	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs16943584	chr18:380495-380496	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79445645	chr18:380496-380497	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541006262	chr18:380502-380503	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs550109108	chr18:380537-380538	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577806425	chr18:380555-380556	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187212338	chr18:380620-380621	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191638116	chr18:380654-380655	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs550171495	chr18:380656-380657	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs183550282	chr18:380679-380680	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550021040	chr18:380704-380705	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547381187	chr18:380706-380707	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187154574	chr18:380722-380723	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371720629	chr18:380762-380763	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539507418	chr18:380772-380773	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs562405540	chr18:380777-380778	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375971637	chr18:380778-380779	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569966016	chr18:380789-380790	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539095733	chr18:380808-380809	Weak transcription Enhancers Flanking Active TSS	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:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:369600-382600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:370800-383600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:373200-380800	Enhancers	Fetal Muscle Leg	muscle
5	chr18:373800-380800	Enhancers	Adipose Nuclei	Adipose
6	chr18:375200-379800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:375800-380800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr18:376800-381000	Enhancers	Placenta	Placenta
9	chr18:377400-380200	Weak transcription	Spleen	Spleen
10	chr18:377400-381800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:377600-380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:378000-380200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:378600-380600	Enhancers	Primary B cells from cord blood	blood
14	chr18:379000-380200	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:379000-382000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:379000-382400	Weak transcription	NHDF-Ad	bronchial
17	chr18:379000-393800	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:379200-379800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr18:379200-380400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:379200-380800	Enhancers	Fetal Stomach	stomach
21	chr18:379200-381400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr18:379400-381400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr18:379600-380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:379600-380200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:379600-380600	Enhancers	Fetal Kidney	kidney
26	chr18:379600-380800	Flanking Active TSS	Fetal Lung	lung
27	chr18:379800-380000	Enhancers	Primary hematopoietic stem cells	blood
28	chr18:379800-380000	Enhancers	Fetal Muscle Trunk	muscle
29	chr18:379800-380400	Enhancers	NHLF	lung
30	chr18:380000-390400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr18:380200-380400	Enhancers	Spleen	Spleen
32	chr18:380200-380600	Enhancers	Colon Smooth Muscle	Colon
33	chr18:380200-380800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:380200-389800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr18:380600-380800	Enhancers	Left Ventricle	heart
36	chr18:380600-381800	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:380800-381000	Enhancers	Fetal Lung	lung
38	chr18:380800-381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:380800-382000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:380800-382000	Weak transcription	Fetal Stomach	stomach
41	chr18:381000-382200	Weak transcription	Fetal Lung	lung
42	chr18:381400-382200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr18:381400-382600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr18:381800-382000	Enhancers	Colon Smooth Muscle	Colon
45	chr18:381800-382600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr18:381800-383200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:382000-382400	Weak transcription	Colon Smooth Muscle	Colon
48	chr18:382000-382800	Enhancers	Rectal Smooth Muscle	rectum
49	chr18:382000-383200	Enhancers	Fetal Stomach	stomach
50	chr18:382000-384200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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