Variant report

Variant	nsv874332
Chromosome Location	chr2:77288585-77387208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3312 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3312 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372438196	chr2:77295625-77295626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183046193	chr2:77295664-77295665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs186412527	chr2:77295669-77295670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533306712	chr2:77295681-77295682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551380204	chr2:77295698-77295699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368150532	chr2:77295708-77295709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560308167	chr2:77295714-77295715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs527465220	chr2:77295717-77295718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548681586	chr2:77295721-77295722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567055536	chr2:77295730-77295731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11892997	chr2:77295731-77295732	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs12623546	chr2:77295756-77295757	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369812252	chr2:77295757-77295758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191216024	chr2:77295812-77295813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs374018247	chr2:77295814-77295815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138263022	chr2:77295851-77295852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374675979	chr2:77295854-77295855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142752804	chr2:77295871-77295872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113413383	chr2:77295910-77295911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534356257	chr2:77295920-77295921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182491573	chr2:77295931-77295932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs574215520	chr2:77295932-77295933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34912534	chr2:77295953-77295954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113396846	chr2:77295954-77295955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11126580	chr2:77295961-77295962	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577921351	chr2:77295968-77295969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541296817	chr2:77295975-77295976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188007648	chr2:77295985-77295986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192390308	chr2:77296005-77296006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558830706	chr2:77296022-77296023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75460076	chr2:77296029-77296030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577774307	chr2:77296030-77296031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527565925	chr2:77296032-77296033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542438898	chr2:77296033-77296034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs183168020	chr2:77296050-77296051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148364675	chr2:77296056-77296057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187034973	chr2:77296069-77296070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549424279	chr2:77296074-77296075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571224000	chr2:77296095-77296096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs141533551	chr2:77296106-77296107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545622323	chr2:77296107-77296108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs368757832	chr2:77296120-77296121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552067358	chr2:77296144-77296145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564021605	chr2:77296151-77296152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150869030	chr2:77296192-77296193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534475075	chr2:77296239-77296240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556045205	chr2:77296240-77296241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191930605	chr2:77296245-77296246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139350963	chr2:77296274-77296275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145162583	chr2:77296300-77296301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77295600-77296800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77298600-77300000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:77299600-77300000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:77300000-77300200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:77300000-77311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:77300200-77300400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:77300400-77301800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:77301800-77302400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:77302400-77307400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:77303200-77303600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr2:77304000-77304600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:77304600-77307800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:77307400-77308400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:77307800-77308200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:77307800-77308200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:77308000-77308200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:77308200-77311600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:77308200-77312800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:77308400-77310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:77308400-77311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:77308600-77311400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:77310400-77313200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:77311200-77311600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:77311400-77311600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:77311400-77314200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:77311600-77311800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:77311600-77312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:77311600-77312600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:77311600-77313200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:77311600-77313600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:77311600-77315000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:77311800-77312000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:77311800-77312000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:77311800-77312800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:77312000-77312600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:77312000-77313000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:77312200-77312600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:77312600-77313800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:77312600-77314000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:77312600-77314000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:77312800-77313000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:77312800-77313000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:77312800-77314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:77312800-77314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:77313000-77314000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:77313000-77315000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:77313200-77314800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:77313200-77315000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:77313200-77315400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:77313600-77315400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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