Variant report

Variant	nsv508188
Chromosome Location	chr2:184353162-184383232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:184357852..184360567-chr2:184368359..184370734,2	K562	blood:
2	chr2:184357852..184360567-chr2:184368359..184370734,2	K562	blood:

Extended variants
information (count: 808 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540260269	chr2:184353174-184353175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560481307	chr2:184353182-184353183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186475504	chr2:184353277-184353278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144493113	chr2:184353284-184353285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532346610	chr2:184353332-184353333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552311552	chr2:184353349-184353350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568962734	chr2:184353376-184353377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62197587	chr2:184353413-184353414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1992179	chr2:184353455-184353456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568194437	chr2:184353527-184353528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533744676	chr2:184353553-184353554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1370648	chr2:184353567-184353568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567145325	chr2:184353575-184353576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531395561	chr2:184353724-184353725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199983479	chr2:184353750-184353751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2218031	chr2:184353761-184353762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13409797	chr2:184353796-184353797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544438766	chr2:184353799-184353800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554623282	chr2:184353808-184353809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189774219	chr2:184353809-184353810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13409979	chr2:184353810-184353811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560298959	chr2:184353813-184353814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13384331	chr2:184353939-184353940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370249079	chr2:184353964-184353965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113179097	chr2:184353967-184353968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372949527	chr2:184353973-184353974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545802770	chr2:184353989-184353990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35648437	chr2:184354056-184354057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571949859	chr2:184354119-184354120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7592513	chr2:184354140-184354141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548833811	chr2:184354181-184354182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568155922	chr2:184354185-184354186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527420149	chr2:184354206-184354207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150902780	chr2:184354214-184354215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182384907	chr2:184354236-184354237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539290059	chr2:184354247-184354248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559001650	chr2:184354262-184354263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569238581	chr2:184354279-184354280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17709881	chr2:184354287-184354288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11412226	chr2:184354384-184354385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397871701	chr2:184354385-184354386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554783013	chr2:184354416-184354417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187960624	chr2:184354452-184354453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534040389	chr2:184354467-184354468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538040779	chr2:184354470-184354471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192989848	chr2:184354476-184354477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7592960	chr2:184354491-184354492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183040500	chr2:184354516-184354517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571782060	chr2:184354553-184354554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75388044	chr2:184354572-184354573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184351000-184360200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:184351200-184353400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:184351800-184355200	Enhancers	Fetal Heart	heart
4	chr2:184353400-184355000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:184355000-184355600	Enhancers	Fetal Intestine Small	intestine
6	chr2:184355000-184355600	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:184355000-184355800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:184355000-184356200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:184355000-184356400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:184355200-184355600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:184355200-184355800	Flanking Active TSS	Fetal Heart	heart
12	chr2:184355200-184356200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:184355400-184355800	Enhancers	Fetal Intestine Large	intestine
14	chr2:184355400-184356000	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:184355400-184356200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:184355400-184356200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:184355400-184356200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:184355400-184356400	Enhancers	Fetal Stomach	stomach
19	chr2:184355600-184355800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr2:184355600-184356000	Enhancers	Brain Hippocampus Middle	brain
21	chr2:184355600-184356000	Enhancers	Colon Smooth Muscle	Colon
22	chr2:184355600-184356200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:184355600-184356200	Enhancers	Fetal Muscle Leg	muscle
24	chr2:184355600-184356200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:184355600-184356200	Enhancers	NH-A	brain
26	chr2:184355600-184356400	Enhancers	Brain Germinal Matrix	brain
27	chr2:184355600-184357600	Weak transcription	Fetal Intestine Small	intestine
28	chr2:184355800-184356200	Enhancers	Fetal Lung	lung
29	chr2:184355800-184356200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr2:184355800-184356200	Enhancers	Stomach Smooth Muscle	stomach
31	chr2:184355800-184356800	Enhancers	Fetal Heart	heart
32	chr2:184356000-184356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:184357600-184357800	Enhancers	Fetal Intestine Large	intestine
34	chr2:184357600-184358200	Enhancers	Fetal Intestine Small	intestine
35	chr2:184357800-184358000	Enhancers	Fetal Muscle Leg	muscle
36	chr2:184357800-184358200	Enhancers	Psoas Muscle	Psoas
37	chr2:184360000-184361000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:184360000-184361000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:184360000-184361000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:184360000-184361000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:184360200-184361000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:184360200-184361000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:184360200-184361200	Enhancers	GM12878-XiMat	blood
44	chr2:184360400-184361000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:184360400-184361000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:184360400-184361200	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:184367000-184367800	Enhancers	HMEC	breast
48	chr2:184367200-184368000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:184372000-184372400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr2:184372400-184374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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