Variant report

Variant	nsv1002372
Chromosome Location	chr2:101312468-101335019
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	chr2:101317939..101320391-chr2:101320823..101323497,2	MCF-7	breast:
2	chr2:101317939..101320391-chr2:101320823..101323497,2	MCF-7	breast:

Extended variants
information (count: 551 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73967653	chr2:101318001-101318002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555373423	chr2:101318002-101318003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536807939	chr2:101318041-101318042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115908757	chr2:101318046-101318047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554863530	chr2:101318077-101318078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77301196	chr2:101318089-101318090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538338540	chr2:101318090-101318091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558008605	chr2:101318125-101318126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577756408	chr2:101318128-101318129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546322259	chr2:101318132-101318133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184088263	chr2:101318149-101318150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576438053	chr2:101318163-101318164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541844994	chr2:101318175-101318176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188711201	chr2:101319407-101319408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200985764	chr2:101319412-101319413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191671801	chr2:101319426-101319427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149769510	chr2:101319437-101319438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145870746	chr2:101319487-101319488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372869460	chr2:101319494-101319495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544070394	chr2:101319513-101319514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568586863	chr2:101319515-101319516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75542538	chr2:101319575-101319576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543206019	chr2:101319576-101319577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559497252	chr2:101319611-101319612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548072692	chr2:101319617-101319618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528167528	chr2:101319618-101319619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551108246	chr2:101319625-101319626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11888428	chr2:101319672-101319673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143775473	chr2:101319695-101319696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10175405	chr2:101319712-101319713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs567164927	chr2:101319720-101319721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536040532	chr2:101319742-101319743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549470849	chr2:101319752-101319753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565851166	chr2:101319758-101319759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147710288	chr2:101319804-101319805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142520901	chr2:101319822-101319823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528973340	chr2:101319824-101319825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371074612	chr2:101319838-101319839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557893245	chr2:101319871-101319872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551843012	chr2:101319891-101319892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75422704	chr2:101319913-101319914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146964207	chr2:101319919-101319920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557693713	chr2:101319940-101319941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138006907	chr2:101319950-101319951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537180453	chr2:101319967-101319968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556308666	chr2:101319971-101319972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80014962	chr2:101319985-101319986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553571450	chr2:101320026-101320027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573010913	chr2:101320042-101320043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545067004	chr2:101320070-101320071	Enhancers 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	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101318000-101318200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:101319400-101319600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:101319600-101320000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:101319600-101320200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:101319800-101320000	Enhancers	Fetal Brain Male	brain
6	chr2:101319800-101320200	Enhancers	Colon Smooth Muscle	Colon
7	chr2:101319800-101320400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:101319800-101320600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:101319800-101320600	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:101319800-101320800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:101319800-101323600	Enhancers	Primary T cells from cord blood	blood
12	chr2:101320000-101320400	Enhancers	Adipose Nuclei	Adipose
13	chr2:101320000-101320600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:101320000-101320800	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:101320000-101321000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:101320000-101322800	Weak transcription	Fetal Brain Male	brain
17	chr2:101320200-101320800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:101320400-101320800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:101320600-101321000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:101320600-101322800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:101320800-101322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:101320800-101323400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:101321000-101322800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:101321000-101323200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:101322200-101322400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:101322200-101322600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:101322200-101323600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:101322400-101324400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:101322400-101325200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:101322800-101323000	Enhancers	Fetal Brain Male	brain
31	chr2:101322800-101325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:101322800-101326200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:101323000-101323800	Weak transcription	Fetal Brain Male	brain
34	chr2:101323200-101323600	Enhancers	NHEK	skin
35	chr2:101323200-101325200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:101323200-101325400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:101323400-101323800	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:101323400-101324400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:101323400-101324400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:101323400-101324400	Enhancers	Esophagus	oesophagus
41	chr2:101323400-101325400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:101323600-101323800	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr2:101323600-101323800	Flanking Active TSS	NHEK	skin
44	chr2:101323600-101324400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:101323600-101324600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:101323600-101325000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:101323800-101324000	Enhancers	Primary T cells from cord blood	blood
48	chr2:101323800-101324000	Enhancers	Fetal Muscle Leg	muscle
49	chr2:101323800-101324000	Enhancers	NHEK	skin
50	chr2:101323800-101324200	Enhancers	Fetal Brain Male	brain

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