Variant report

Variant	nsv431524
Chromosome Location	chr2:115425650-115530770
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:115508836..115511567-chr2:115514071..115516240,2	K562	blood:
2	chr2:115486382..115487273-chr2:115940531..115941348,2	MCF-7	breast:
3	chr2:115498492..115501139-chr2:115501419..115503090,2	MCF-7	breast:
4	chr2:115486322..115487109-chr2:115841045..115841585,2	MCF-7	breast:
5	chr2:115486408..115487261-chr2:115951872..115952594,3	MCF-7	breast:
6	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:
7	chr2:115498492..115501139-chr2:115501419..115503090,2	MCF-7	breast:
8	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:
9	chr2:115508836..115511567-chr2:115514071..115516240,2	K562	blood:

No data

Extended variants
information (count: 2433 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2433 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12711802	chr2:115425650-115425651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188006860	chr2:115425687-115425688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567808730	chr2:115425692-115425693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534278346	chr2:115425716-115425717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554861098	chr2:115425788-115425789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79033804	chr2:115425814-115425815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536869235	chr2:115425832-115425833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556766126	chr2:115425885-115425886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149713274	chr2:115425905-115425906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576614269	chr2:115425929-115425930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545140179	chr2:115425942-115425943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113534386	chr2:115425948-115425949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140097731	chr2:115425991-115425992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567902007	chr2:115426000-115426001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556566669	chr2:115426034-115426035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573284586	chr2:115426035-115426036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536360042	chr2:115426040-115426041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552762038	chr2:115426045-115426046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146949987	chr2:115426068-115426069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573385502	chr2:115426106-115426107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531847518	chr2:115426125-115426126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544103263	chr2:115426191-115426192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569677930	chr2:115432214-115432215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538209296	chr2:115432245-115432246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558823733	chr2:115432272-115432273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10200626	chr2:115432336-115432337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369565994	chr2:115432383-115432384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534838182	chr2:115432396-115432397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554378476	chr2:115432403-115432404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571682314	chr2:115432407-115432408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61273778	chr2:115432412-115432413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76819820	chr2:115432466-115432467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556191474	chr2:115432471-115432472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561634400	chr2:115432558-115432559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs718061	chr2:115432585-115432586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576395832	chr2:115432594-115432595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545041484	chr2:115432629-115432630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565596127	chr2:115432646-115432647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148235388	chr2:115432647-115432648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs718062	chr2:115432648-115432649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs561503689	chr2:115432649-115432650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17043340	chr2:115432658-115432659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184396450	chr2:115432838-115432839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369036079	chr2:115432850-115432851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569609646	chr2:115432855-115432856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7588610	chr2:115432888-115432889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551858469	chr2:115432889-115432890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187280682	chr2:115432934-115432935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534642734	chr2:115432957-115432958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554441538	chr2:115432958-115432959	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115425200-115426200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:115432200-115433200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:115432200-115433200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:115433200-115438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:115433200-115438600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:115434600-115434800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:115434800-115441000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:115436400-115436800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:115436400-115437000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:115436600-115436800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:115436600-115436800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:115436800-115438800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:115436800-115440600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:115437000-115438600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:115437000-115441400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:115438600-115439600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:115438600-115439800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:115438600-115440000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:115438800-115439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:115438800-115439800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:115439000-115439400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:115439400-115439800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:115439600-115439800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:115439600-115439800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:115439600-115441400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:115439600-115441400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:115439800-115440800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:115439800-115441000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:115439800-115441800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:115440600-115440800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:115440600-115441000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr2:115440600-115441400	Enhancers	Primary T cells from cord blood	blood
33	chr2:115440600-115442200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:115440800-115441200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:115440800-115442200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:115441000-115441200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:115441000-115442600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:115441000-115443000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:115441200-115441800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:115441200-115441800	Enhancers	Fetal Thymus	thymus
41	chr2:115441200-115442200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:115441200-115442400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr2:115441400-115442000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr2:115441400-115442400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:115441400-115442600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:115441400-115443200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:115441400-115443800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:115441600-115442600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:115441800-115443800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:115442000-115442400	Active TSS	Primary T cells from cord blood	blood

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