Variant report

Variant	nsv875220
Chromosome Location	chr2:141819422-141882963
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	chr2:141835054..141836662-chr2:141842749..141844903,2	MCF-7	breast:
2	chr2:141835054..141836662-chr2:141842749..141844903,2	MCF-7	breast:

Extended variants
information (count: 879 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1525583	chr2:141819422-141819423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372850410	chr2:141819475-141819476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183307031	chr2:141819498-141819499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188706267	chr2:141819500-141819501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150224230	chr2:141819509-141819510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72981092	chr2:141819588-141819589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371011809	chr2:141819596-141819597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199727048	chr2:141819622-141819623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146759035	chr2:141819637-141819638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141167572	chr2:141819709-141819710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201093074	chr2:141819716-141819717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138996626	chr2:141819751-141819752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148137960	chr2:141819773-141819774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374349425	chr2:141819797-141819798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200690342	chr2:141819812-141819813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113084292	chr2:141819846-141819847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375595862	chr2:141819876-141819877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576024863	chr2:141819880-141819881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545107008	chr2:141819883-141819884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192321836	chr2:141819892-141819893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371067117	chr2:141819893-141819894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183226750	chr2:141819966-141819967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111750025	chr2:141819967-141819968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187919251	chr2:141820031-141820032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116261176	chr2:141820034-141820035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548919639	chr2:141820074-141820075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562924013	chr2:141820079-141820080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141578459	chr2:141820134-141820135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147113830	chr2:141820221-141820222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541854194	chr2:141820262-141820263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574982591	chr2:141820282-141820283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571350353	chr2:141820288-141820289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527522120	chr2:141820349-141820350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547621215	chr2:141820388-141820389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369728323	chr2:141820395-141820396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567518982	chr2:141820410-141820411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191223112	chr2:141820424-141820425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184597845	chr2:141820471-141820472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115279891	chr2:141820493-141820494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538337213	chr2:141820522-141820523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189452822	chr2:141820534-141820535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192941618	chr2:141820557-141820558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564053083	chr2:141820558-141820559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7597913	chr2:141820623-141820624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573967489	chr2:141820632-141820633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116733289	chr2:141820670-141820671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138589624	chr2:141820797-141820798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529545637	chr2:141820831-141820832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531777491	chr2:141820834-141820835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185006905	chr2:141820940-141820941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141818600-141821800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:141819200-141820400	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:141819200-141820400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:141819400-141819800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:141819400-141819800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:141819400-141820600	Enhancers	Brain Hippocampus Middle	brain
7	chr2:141819400-141820600	Enhancers	Fetal Heart	heart
8	chr2:141819600-141820400	Enhancers	Brain Substantia Nigra	brain
9	chr2:141819600-141820600	Enhancers	Brain Angular Gyrus	brain
10	chr2:141819800-141820000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:141820000-141820200	Enhancers	Brain Anterior Caudate	brain
12	chr2:141820000-141821000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:141820000-141822400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:141820400-141825000	Weak transcription	Brain Substantia Nigra	brain
15	chr2:141820600-141821000	Weak transcription	Brain Angular Gyrus	brain
16	chr2:141821000-141821400	Enhancers	Brain Angular Gyrus	brain
17	chr2:141821000-141821600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:141821000-141821800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:141821000-141822000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:141821200-141821600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:141821200-141821600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:141821200-141821600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:141821200-141821600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:141821200-141821800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:141821200-141821800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:141825000-141825400	Enhancers	Brain Substantia Nigra	brain
27	chr2:141826600-141827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:141826800-141827400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:141835600-141835800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:141835800-141836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:141835800-141837000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:141836000-141836600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:141836000-141836800	Enhancers	Fetal Heart	heart
34	chr2:141836000-141837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:141836000-141837200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:141836000-141837200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:141836200-141837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:141836200-141837200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:141836200-141837800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:141836400-141837200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:141836400-141837200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:141836600-141837000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:141836800-141837200	Enhancers	Brain Germinal Matrix	brain
44	chr2:141836800-141837200	Enhancers	Dnd41	blood
45	chr2:141849000-141849200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:141849000-141849200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:141850000-141850600	Enhancers	Dnd41	blood
48	chr2:141852400-141852800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:141860800-141861200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:141860800-141861800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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