Variant report

Variant	nsv874915
Chromosome Location	chr2:115520205-115554390
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	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:

Extended variants
information (count: 702 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:702 , 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	rs1435868	chr2:115520205-115520206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141444471	chr2:115520222-115520223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558624425	chr2:115520223-115520224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572390481	chr2:115520270-115520271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118154087	chr2:115520287-115520288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78364846	chr2:115520295-115520296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150857144	chr2:115520301-115520302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138253391	chr2:115520304-115520305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560073642	chr2:115520306-115520307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560858540	chr2:115520319-115520320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147307429	chr2:115520349-115520350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545958681	chr2:115520372-115520373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141020264	chr2:115520413-115520414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528101157	chr2:115520496-115520497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144968274	chr2:115520515-115520516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147341170	chr2:115520528-115520529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570678676	chr2:115520537-115520538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180914322	chr2:115520582-115520583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10187047	chr2:115520644-115520645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111662771	chr2:115520670-115520671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574593939	chr2:115520673-115520674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148403130	chr2:115520690-115520691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142546903	chr2:115520738-115520739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550917304	chr2:115520744-115520745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184981597	chr2:115520748-115520749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534782111	chr2:115520771-115520772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117062520	chr2:115520850-115520851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574705585	chr2:115520876-115520877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150961000	chr2:115520900-115520901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536718841	chr2:115520936-115520937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554798054	chr2:115520946-115520947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557675333	chr2:115520949-115520950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376011115	chr2:115520997-115520998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577545142	chr2:115521003-115521004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190125752	chr2:115521051-115521052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560758848	chr2:115521099-115521100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532560824	chr2:115521268-115521269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552720074	chr2:115521288-115521289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181061950	chr2:115521414-115521415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150560467	chr2:115521433-115521434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572909227	chr2:115521453-115521454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541519868	chr2:115521454-115521455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140794815	chr2:115521501-115521502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72959542	chr2:115521539-115521540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550503595	chr2:115521543-115521544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564024907	chr2:115521680-115521681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532989725	chr2:115521710-115521711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17786019	chr2:115521717-115521718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566516545	chr2:115521720-115521721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535131005	chr2:115521786-115521787	Weak transcription	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115513200-115520800	Weak transcription	Pancreas	Pancrea
2	chr2:115519000-115520800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:115519200-115521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:115520200-115520800	Enhancers	Brain Angular Gyrus	brain
5	chr2:115520200-115520800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:115520200-115520800	Enhancers	Brain Substantia Nigra	brain
7	chr2:115520200-115521600	Enhancers	Fetal Heart	heart
8	chr2:115520200-115526200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:115520800-115521000	Enhancers	Pancreas	Pancrea
10	chr2:115526200-115528000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:115526400-115527600	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:115526400-115528200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:115526600-115527600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:115526800-115527400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:115527000-115528000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:115527200-115527600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:115527200-115527800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:115527200-115528000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:115527400-115527800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:115538600-115539000	Enhancers	Brain Anterior Caudate	brain
21	chr2:115538600-115539000	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:115538600-115539400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:115538800-115539800	Enhancers	Brain Substantia Nigra	brain
24	chr2:115539000-115539600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:115539000-115539800	Enhancers	Brain Angular Gyrus	brain
26	chr2:115539600-115539800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:115539600-115541400	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:115539800-115545000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:115539800-115547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:115541200-115541600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:115541200-115541600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:115541200-115541800	Enhancers	Pancreas	Pancrea
33	chr2:115541400-115541600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:115541400-115542000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:115541400-115542000	Enhancers	Brain Hippocampus Middle	brain
36	chr2:115541600-115541800	Enhancers	Ovary	ovary
37	chr2:115541600-115542600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:115541600-115542800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:115541600-115546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:115541800-115542000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:115542000-115542400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:115542000-115542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:115542000-115546600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:115542400-115543000	Enhancers	Brain Hippocampus Middle	brain
45	chr2:115542400-115543400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:115542600-115543200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:115542600-115543200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:115542800-115543000	Enhancers	Ovary	ovary
49	chr2:115543000-115543200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:115543200-115544800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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