Variant report

Variant	nsv1014900
Chromosome Location	chr2:210205050-210235562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:210232314..210234068-chr2:211034743..211037844,3	MCF-7	breast:
2	chr2:210229068..210231553-chr2:210286717..210289025,2	MCF-7	breast:
3	chr2:210209759..210211803-chr2:210221775..210224209,2	MCF-7	breast:
4	chr2:210232889..210235431-chr2:210287051..210289386,3	MCF-7	breast:
5	chr2:210232168..210234903-chr2:210243196..210246928,4	MCF-7	breast:
6	chr2:210209759..210211803-chr2:210221775..210224209,2	MCF-7	breast:
7	chr2:210218244..210221102-chr2:210263734..210265265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231294	chromatin interactions
ENSG00000144445	chromatin interactions
ENSG00000078018	chromatin interactions
ENSG00000263530	chromatin interactions

Extended variants
information (count: 649 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77285824	chr2:210205483-210205484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539104863	chr2:210205578-210205579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549467194	chr2:210205630-210205631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534482551	chr2:210205632-210205633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569510647	chr2:210205643-210205644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184531387	chr2:210205649-210205650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546777363	chr2:210205743-210205744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537292376	chr2:210209208-210209209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557609047	chr2:210209221-210209222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141703315	chr2:210209234-210209235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536976776	chr2:210209289-210209290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75281985	chr2:210209293-210209294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572808360	chr2:210209307-210209308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191154709	chr2:210209308-210209309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71420746	chr2:210209321-210209322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150803020	chr2:210209361-210209362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138073249	chr2:210209409-210209410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544454465	chr2:210209432-210209433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57968121	chr2:210209440-210209441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9288404	chr2:210209452-210209453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs3906906	chr2:210209550-210209551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369467379	chr2:210209563-210209564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115210186	chr2:210209571-210209572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551456794	chr2:210209587-210209588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183463486	chr2:210209592-210209593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530990907	chr2:210209593-210209594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76464794	chr2:210209596-210209597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149358674	chr2:210209604-210209605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542573642	chr2:210209614-210209615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536507351	chr2:210209647-210209648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187028589	chr2:210209653-210209654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376624884	chr2:210209658-210209659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6717872	chr2:210209679-210209680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538667444	chr2:210209680-210209681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189559164	chr2:210209700-210209701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182258514	chr2:210209740-210209741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374377363	chr2:210209741-210209742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528494354	chr2:210209872-210209873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544345741	chr2:210209913-210209914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554420572	chr2:210209974-210209975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574583709	chr2:210209982-210209983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76902018	chr2:210209989-210209990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565047647	chr2:210210066-210210067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532306185	chr2:210210092-210210093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146450342	chr2:210210116-210210117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35387976	chr2:210210140-210210141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6746759	chr2:210210188-210210189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528444000	chr2:210210201-210210202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72990000	chr2:210210378-210210379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187658304	chr2:210210485-210210486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210205400-210205600	Enhancers	Ovary	ovary
2	chr2:210205400-210205800	Enhancers	NHEK	skin
3	chr2:210209200-210209400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:210209400-210211000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:210211000-210211600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:210211000-210212000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:210211000-210212000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:210211000-210212000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:210211200-210211600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:210211200-210211800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:210211200-210212000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:210211400-210212000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:210211400-210212000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:210211600-210212000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:210211600-210213200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:210211800-210213200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:210212000-210213000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:210212000-210213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:210212000-210213200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:210212000-210213200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:210212000-210213200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:210212000-210213400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:210212000-210214000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:210212600-210213200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:210212800-210213800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:210212800-210214200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:210213000-210214400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:210213200-210213600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:210213200-210213600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:210213200-210213600	Enhancers	Fetal Brain Female	brain
31	chr2:210213200-210213800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:210213200-210213800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:210213200-210213800	Enhancers	Brain Germinal Matrix	brain
34	chr2:210213200-210214000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:210213200-210214200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:210213200-210214400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:210213200-210214400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:210213400-210213600	Enhancers	Fetal Brain Male	brain
39	chr2:210213400-210213800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:210213400-210214200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:210213600-210213800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:210214000-210214200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:210221600-210221800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:210221600-210222400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:210221600-210222800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:210221600-210223200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:210221800-210222000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:210221800-210222200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:210221800-210222800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:210221800-210222800	Enhancers	H9 Cell Line	embryonic stem cell

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