Variant report

Variant	nsv874327
Chromosome Location	chr2:77085752-77209750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:77122571-77123208	HepG2	liver:	n/a	n/a
2	BACH1	chr2:77097162-77097483	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr2:77202307-77202452	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:77167917-77167935	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:77180986-77181204	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:77180931-77181241	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr2:77180978-77181201	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:77097382-77098085	IMR90	lung:	n/a	chr2:77097736-77097749 chr2:77097733-77097750
9	CEBPB	chr2:77203949-77204214	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:77172472-77172742	HepG2	liver:	n/a	chr2:77172626-77172637 chr2:77172625-77172638
11	CEBPB	chr2:77130594-77130778	HepG2	liver:	n/a	chr2:77130612-77130623
12	CEBPB	chr2:77122629-77122889	HepG2	liver:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
13	CEBPB	chr2:77122595-77122980	MCF-7	breast:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
14	CEBPB	chr2:77122605-77122963	H1-hESC	embryonic stem cell:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
15	CEBPB	chr2:77122593-77122967	IMR90	lung:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
16	CEBPB	chr2:77122556-77122880	HepG2	liver:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
17	CEBPB	chr2:77122614-77122855	K562	blood:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
18	CEBPB	chr2:77122603-77122971	A549	lung:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
19	CEBPB	chr2:77122604-77122992	HepG2	liver:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
20	CEBPB	chr2:77172470-77172928	A549	lung:	n/a	chr2:77172758-77172771 chr2:77172626-77172637 chr2:77172758-77172769 chr2:77172758-77172769 chr2:77172625-77172638
21	CEBPB	chr2:77122547-77122985	MCF-7	breast:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
22	CEBPB	chr2:77122537-77123013	A549	lung:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
23	CEBPB	chr2:77105143-77105334	HepG2	liver:	n/a	chr2:77105158-77105169
24	CEBPB	chr2:77122611-77122887	ECC-1	luminal epithelium:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
25	CEBPB	chr2:77180727-77181209	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr2:77122593-77122972	Hela-S3	cervix:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
27	CEBPB	chr2:77122524-77122982	HepG2	liver:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
28	CEBPB	chr2:77122644-77122941	A549	lung:	n/a	chr2:77122779-77122788 chr2:77122777-77122790 chr2:77122779-77122788 chr2:77122779-77122788 chr2:77122777-77122788 chr2:77122779-77122788
29	CEBPD	chr2:77122634-77122892	HepG2	liver:	n/a	chr2:77122779-77122788
30	CREB1	chr2:77088795-77089187	GM12878	blood:	n/a	n/a
31	CREB1	chr2:77088801-77089173	GM12878	blood:	n/a	n/a
32	CTCF	chr2:77180915-77181197	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:77180980-77181130	SAEC	small airway:	n/a	n/a
34	CTCF	chr2:77170493-77170551	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr2:77097340-77097490	HPAF	blood vessel:	n/a	chr2:77097344-77097357 chr2:77097342-77097360
36	CTCF	chr2:77181000-77181150	GM12866	blood:	n/a	n/a
37	CTCF	chr2:77097260-77097410	HPF	lung:	n/a	chr2:77097344-77097357 chr2:77097342-77097360
38	CTCF	chr2:77180911-77181175	LNCaP	prostate:	n/a	n/a
39	CTCF	chr2:77180960-77181110	GM12801	blood:	n/a	n/a
40	CTCF	chr2:77180922-77181204	Medullo	brain:	n/a	n/a
41	CTCF	chr2:77180920-77181070	HCM	heart:	n/a	n/a
42	CTCF	chr2:77181000-77181150	HMEC	breast:	n/a	n/a
43	CTCF	chr2:77180988-77181138	GM19240	blood:	n/a	n/a
44	CTCF	chr2:77180926-77181200	HepG2	liver:	n/a	n/a
45	CTCF	chr2:77180940-77181090	HVMF	connective:	n/a	n/a
46	CTCF	chr2:77180980-77181130	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr2:77180960-77181110	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:77097240-77097390	HMF	breast:	n/a	chr2:77097344-77097357 chr2:77097342-77097360
49	CTCF	chr2:77180901-77181204	K562	blood:	n/a	n/a
50	CTCF	chr2:77180940-77181090	GM12871	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:77111498..77113879-chr21:46359661..46361542,2	MCF-7	breast:
2	chr2:77179669..77181456-chr2:77188236..77191117,3	K562	blood:
3	chr2:77179669..77181456-chr2:77188236..77191117,3	K562	blood:
4	chr2:77116319..77118650-chr2:77122168..77124589,2	K562	blood:
5	chr2:77116319..77118650-chr2:77122168..77124589,2	K562	blood:

Variant related genes	Relation type
ENSG00000234653	TF binding region
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions

Extended variants
information (count: 2988 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2988 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10196177	chr2:77085752-77085753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532371944	chr2:77085765-77085766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369580861	chr2:77085782-77085783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185918429	chr2:77085801-77085802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565058820	chr2:77085804-77085805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117989530	chr2:77085843-77085844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189180045	chr2:77085859-77085860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201828373	chr2:77085873-77085874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567843111	chr2:77085926-77085927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556986466	chr2:77085987-77085988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538181634	chr2:77086018-77086019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556454671	chr2:77086028-77086029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577768225	chr2:77086035-77086036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545205847	chr2:77086054-77086055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181182831	chr2:77086060-77086061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572547637	chr2:77086122-77086123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542632298	chr2:77086153-77086154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146666130	chr2:77086201-77086202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531750162	chr2:77086206-77086207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57418699	chr2:77086232-77086233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565185190	chr2:77086234-77086235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532307224	chr2:77086243-77086244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140218931	chr2:77086253-77086254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565635760	chr2:77086280-77086281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375260782	chr2:77086282-77086283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529825443	chr2:77086303-77086304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547861534	chr2:77086306-77086307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116544130	chr2:77086309-77086310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143981784	chr2:77086319-77086320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146526358	chr2:77086331-77086332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571646991	chr2:77086417-77086418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554370556	chr2:77086423-77086424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542505212	chr2:77086491-77086492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572430927	chr2:77086510-77086511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536713933	chr2:77086526-77086527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554785780	chr2:77086534-77086535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561426259	chr2:77086586-77086587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376700201	chr2:77086631-77086632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13394242	chr2:77086643-77086644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528632050	chr2:77086692-77086693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185623246	chr2:77086717-77086718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190426255	chr2:77086736-77086737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577259217	chr2:77086740-77086741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540847817	chr2:77086756-77086757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372579361	chr2:77086849-77086850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17040484	chr2:77086856-77086857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs529863994	chr2:77086869-77086870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182971666	chr2:77086921-77086922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563052830	chr2:77086966-77086967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185960883	chr2:77087031-77087032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77076200-77088600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:77088600-77089200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:77088600-77089800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:77088800-77089200	Enhancers	Dnd41	blood
5	chr2:77088800-77089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:77089200-77089800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:77089200-77089800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:77089200-77090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:77089600-77090000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:77089800-77094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:77090200-77090400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:77094200-77095600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:77094400-77098400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:77094600-77096400	Enhancers	HUVEC	blood vessel
15	chr2:77094800-77095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:77094800-77095200	Enhancers	Fetal Lung	lung
17	chr2:77094800-77095600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:77095000-77095400	Enhancers	NH-A	brain
19	chr2:77095400-77097600	Weak transcription	NH-A	brain
20	chr2:77096400-77096800	Weak transcription	HUVEC	blood vessel
21	chr2:77096800-77098200	Enhancers	HUVEC	blood vessel
22	chr2:77097000-77097400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:77097200-77097600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:77097200-77097600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:77097200-77098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:77097200-77098400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:77097600-77098000	Enhancers	NH-A	brain
28	chr2:77097600-77098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:77099000-77099200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:77099000-77099200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:77110200-77110400	Enhancers	Pancreas	Pancrea
32	chr2:77112400-77113000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:77116400-77117000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:77122400-77123200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:77122400-77123200	Enhancers	HepG2	liver
36	chr2:77123400-77124400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr2:77144800-77145200	Enhancers	Adipose Nuclei	Adipose
38	chr2:77146400-77146600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:77146600-77167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:77153600-77154600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:77154600-77155800	Enhancers	Fetal Brain Male	brain
42	chr2:77154800-77156400	Enhancers	Fetal Brain Female	brain
43	chr2:77155800-77157000	Weak transcription	Fetal Brain Male	brain
44	chr2:77156400-77156600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:77156400-77157800	Weak transcription	Fetal Brain Female	brain
46	chr2:77157000-77157600	Enhancers	Fetal Brain Male	brain
47	chr2:77158000-77158200	Enhancers	Fetal Brain Female	brain
48	chr2:77158200-77158600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:77158600-77158800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:77158600-77158800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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