Variant report

Variant	nsv518285
Chromosome Location	chr2:33502505-33509219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33508471..33509397-chr2:33534003..33534531,2	K562	blood:
2	chr2:33169785..33172664-chr2:33500827..33503324,2	K562	blood:
3	chr2:33508125..33510502-chr2:33516735..33518824,2	K562	blood:
4	chr2:33505710..33509161-chr2:33514931..33517884,3	K562	blood:

Variant related genes	Relation type
ENSG00000049323	chromatin interactions
ENSG00000206951	chromatin interactions

Extended variants
information (count: 329 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3769541	chr2:33502505-33502506	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78220907	chr2:33502519-33502520	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550122169	chr2:33502525-33502526	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186386357	chr2:33502543-33502544	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141513878	chr2:33502563-33502564	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190825437	chr2:33502573-33502574	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs577954369	chr2:33502578-33502579	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534066571	chr2:33502601-33502602	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs75602941	chr2:33502606-33502607	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11682866	chr2:33502608-33502609	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575461624	chr2:33502637-33502638	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576097979	chr2:33502638-33502639	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182629127	chr2:33502650-33502651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs377739035	chr2:33502705-33502706	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576705325	chr2:33502709-33502710	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545377523	chr2:33502743-33502744	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139732791	chr2:33502805-33502806	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs72478622	chr2:33502817-33502818	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370648252	chr2:33502825-33502826	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs9798451	chr2:33502826-33502827	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs202179094	chr2:33502827-33502828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370778507	chr2:33502828-33502829	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs547520549	chr2:33502846-33502847	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185969086	chr2:33502854-33502855	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371921649	chr2:33502863-33502864	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369628420	chr2:33502864-33502865	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372155225	chr2:33502865-33502866	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4670378	chr2:33502866-33502867	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4670379	chr2:33502870-33502871	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560938546	chr2:33502874-33502875	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529931052	chr2:33502878-33502879	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs6543703	chr2:33502880-33502881	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10656984	chr2:33502886-33502887	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs13028167	chr2:33502896-33502897	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199950784	chr2:33502897-33502898	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs149670608	chr2:33502901-33502902	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191192450	chr2:33502920-33502921	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs183088368	chr2:33502936-33502937	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540998385	chr2:33502959-33502960	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543083343	chr2:33502983-33502984	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371169794	chr2:33503046-33503047	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552179151	chr2:33503057-33503058	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559709022	chr2:33503072-33503073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571623984	chr2:33503169-33503170	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs35928301	chr2:33503211-33503212	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4392238	chr2:33503219-33503220	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs533886374	chr2:33503225-33503226	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553869604	chr2:33503227-33503228	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs564540791	chr2:33503252-33503253	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573761386	chr2:33503255-33503256	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
2	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
5	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
11	chr2:33493800-33503400	Weak transcription	Fetal Brain Female	brain
12	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
14	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
16	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:33497800-33503400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:33499200-33508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:33500200-33504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:33500400-33502600	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr2:33500800-33502600	Genic enhancers	Fetal Muscle Leg	muscle
22	chr2:33500800-33503800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:33501000-33502600	Strong transcription	Right Ventricle	heart
24	chr2:33501000-33503200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:33501000-33503200	Weak transcription	Gastric	stomach
26	chr2:33501000-33503200	Weak transcription	HMEC	breast
27	chr2:33501200-33502600	Genic enhancers	Stomach Smooth Muscle	stomach
28	chr2:33501200-33505400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:33501200-33505600	Weak transcription	NHLF	lung
30	chr2:33501200-33511000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:33501200-33516400	Weak transcription	Stomach Mucosa	stomach
32	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:33501400-33502800	Enhancers	A549	lung
34	chr2:33501400-33503400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:33501400-33503600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:33501400-33503600	Weak transcription	HSMM	muscle
37	chr2:33501400-33516600	Weak transcription	K562	blood
38	chr2:33501600-33502600	Enhancers	Right Atrium	heart
39	chr2:33501600-33502600	Strong transcription	NHDF-Ad	bronchial
40	chr2:33501600-33503200	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:33501600-33505400	Strong transcription	NH-A	brain
42	chr2:33501600-33509000	Weak transcription	HUVEC	blood vessel
43	chr2:33501800-33503800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:33501800-33517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:33502000-33502600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:33502000-33502600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:33502000-33502600	Genic enhancers	Left Ventricle	heart
48	chr2:33502000-33502600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:33502000-33503200	Enhancers	Ovary	ovary
50	chr2:33502000-33504200	Enhancers	Fetal Brain Male	brain

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