Variant report

Variant	nsv515610
Chromosome Location	chr2:151715691-151718133
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	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4664779	chr2:151715691-151715692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs552563854	chr2:151715692-151715693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59379472	chr2:151715696-151715697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372564514	chr2:151715717-151715718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548517902	chr2:151715732-151715733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141794985	chr2:151715733-151715734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116566304	chr2:151715757-151715758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12615469	chr2:151715774-151715775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544164672	chr2:151715784-151715785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375825931	chr2:151715811-151715812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560749210	chr2:151715822-151715823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566582227	chr2:151715927-151715928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538306921	chr2:151715944-151715945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77650501	chr2:151715948-151715949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575349689	chr2:151715957-151715958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369193072	chr2:151715993-151715994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115695288	chr2:151716000-151716001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183162826	chr2:151716019-151716020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370667099	chr2:151716050-151716051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139951642	chr2:151716064-151716065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532298379	chr2:151716076-151716077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540440228	chr2:151716089-151716090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377298699	chr2:151716133-151716134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116096917	chr2:151716140-151716141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73967465	chr2:151716142-151716143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545852690	chr2:151716161-151716162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531702667	chr2:151716181-151716182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370523072	chr2:151716279-151716280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187512906	chr2:151716297-151716298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562633484	chr2:151716383-151716384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531623447	chr2:151716425-151716426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548161904	chr2:151716431-151716432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562057770	chr2:151716453-151716454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150428422	chr2:151716471-151716472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79714817	chr2:151716510-151716511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570915048	chr2:151716535-151716536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540011462	chr2:151716582-151716583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552345862	chr2:151716589-151716590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192083962	chr2:151716638-151716639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183478312	chr2:151716656-151716657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554573347	chr2:151716673-151716674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369694853	chr2:151716708-151716709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537178481	chr2:151716730-151716731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75988967	chr2:151716770-151716771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574360500	chr2:151716786-151716787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533800844	chr2:151716810-151716811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4664780	chr2:151716876-151716877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74900898	chr2:151716903-151716904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72860112	chr2:151716904-151716905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556273125	chr2:151716969-151716970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151706600-151715800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151710200-151722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:151713000-151716400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:151713400-151715800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:151713600-151715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:151714800-151717200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:151715000-151717000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:151715000-151717000	Enhancers	Liver	Liver
9	chr2:151715200-151716200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:151715200-151716400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:151715400-151716400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:151715600-151716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:151715600-151716600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:151715600-151716600	Enhancers	NHEK	skin
15	chr2:151715800-151716000	Enhancers	HMEC	breast
16	chr2:151715800-151716600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:151715800-151717000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:151715800-151717000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:151715800-151717200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:151715800-151717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:151716000-151717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:151716000-151717000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:151716000-151717000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:151716000-151717200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:151716200-151717200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:151716200-151717200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:151716200-151717400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:151716200-151717600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:151716400-151716800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:151716400-151717000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:151716400-151717000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:151716400-151717200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:151716400-151717200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:151716600-151716800	Enhancers	HMEC	breast
35	chr2:151716800-151717200	Enhancers	Pancreas	Pancrea
36	chr2:151717000-151720000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:151717000-151729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:151717200-151720000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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