Variant report

Variant	nsv875769
Chromosome Location	chr2:211680401-211782699
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	chr17:57922098..57924197-chr2:211699892..211701526,2	MCF-7	breast:
2	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:

Extended variants
information (count: 1073 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16844960	chr2:211680401-211680402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186405621	chr2:211680467-211680468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538009656	chr2:211680470-211680471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189776076	chr2:211680519-211680520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554658552	chr2:211680538-211680539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10177083	chr2:211680546-211680547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182079962	chr2:211680582-211680583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187779471	chr2:211680638-211680639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140826281	chr2:211680649-211680650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576759447	chr2:211680696-211680697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190886204	chr2:211680707-211680708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562586076	chr2:211680710-211680711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531543927	chr2:211680768-211680769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376419663	chr2:211680783-211680784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572044330	chr2:211680857-211680858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530197876	chr2:211680874-211680875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2371084	chr2:211680883-211680884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534859413	chr2:211680888-211680889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368844630	chr2:211680896-211680897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554453347	chr2:211680924-211680925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577416763	chr2:211680966-211680967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577355756	chr2:211680981-211680982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574745691	chr2:211680984-211680985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554835322	chr2:211681009-211681010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183829196	chr2:211681034-211681035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188305869	chr2:211681055-211681056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150153598	chr2:211681077-211681078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192965105	chr2:211681101-211681102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538525525	chr2:211681131-211681132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545428661	chr2:211681133-211681134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138272781	chr2:211681196-211681197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184852966	chr2:211681197-211681198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574704907	chr2:211681215-211681216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373052493	chr2:211681216-211681217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12478788	chr2:211681243-211681244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11903917	chr2:211681250-211681251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547113737	chr2:211681308-211681309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187032572	chr2:211681326-211681327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532548874	chr2:211681401-211681402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560538734	chr2:211681414-211681415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552253035	chr2:211681415-211681416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191463215	chr2:211681425-211681426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531889030	chr2:211681430-211681431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72941882	chr2:211681438-211681439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183610620	chr2:211681442-211681443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114925568	chr2:211681503-211681504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553452213	chr2:211681556-211681557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189632424	chr2:211681560-211681561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531547876	chr2:211681562-211681563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543336164	chr2:211681618-211681619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211677000-211683200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:211682800-211683200	Weak transcription	Pancreas	Pancrea
3	chr2:211683200-211683400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:211683200-211683600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:211683200-211683600	ZNF genes & repeats	Pancreas	Pancrea
6	chr2:211683200-211684000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:211683400-211683800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:211698200-211698600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:211698200-211699000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:211704000-211704400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:211704400-211707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:211707200-211707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:211707200-211707600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:211707200-211707800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:211707200-211707800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:211707200-211708000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:211707200-211708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:211707400-211707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:211707400-211707800	Enhancers	Brain Germinal Matrix	brain
20	chr2:211707400-211708000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:211707400-211708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:211707800-211710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:211707800-211712400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:211708000-211711000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:211708200-211708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:211708800-211709000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:211710400-211710800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:211710600-211711000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:211710800-211714400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:211714200-211714800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:211714400-211714800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:211714400-211715000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:211714400-211715000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:211714600-211715000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:211722400-211723000	Enhancers	HUVEC	blood vessel
36	chr2:211722800-211725000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:211723000-211723600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:211723000-211728000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:211723000-211728000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:211723200-211723400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:211723200-211723400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:211723200-211725000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:211723200-211728200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:211723400-211724200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:211723400-211726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:211723600-211724000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:211723600-211725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:211723800-211727000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:211724000-211724200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:211724000-211727400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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