Variant report

Variant	nsv523475
Chromosome Location	chr2:76333150-76343190
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	CEBPB	chr2:76334211-76334261	A549	lung:	n/a	n/a
2	CEBPB	chr2:76338609-76338839	H1-hESC	embryonic stem cell:	n/a	chr2:76338700-76338711 chr2:76338671-76338684
3	CEBPB	chr2:76339065-76339331	A549	lung:	n/a	chr2:76339178-76339191 chr2:76339178-76339189 chr2:76339180-76339189 chr2:76339179-76339190 chr2:76339180-76339189 chr2:76339180-76339189 chr2:76339178-76339191 chr2:76339180-76339189 chr2:76339178-76339189
4	CEBPB	chr2:76338539-76339363	HepG2	liver:	n/a	chr2:76339178-76339191 chr2:76339178-76339189 chr2:76339180-76339189 chr2:76339179-76339190 chr2:76339180-76339189 chr2:76339180-76339189 chr2:76339178-76339191 chr2:76338700-76338711 chr2:76338671-76338684 chr2:76339180-76339189 chr2:76339178-76339189
5	CEBPB	chr2:76339049-76339339	H1-hESC	embryonic stem cell:	n/a	chr2:76339178-76339191 chr2:76339178-76339189 chr2:76339180-76339189 chr2:76339179-76339190 chr2:76339180-76339189 chr2:76339180-76339189 chr2:76339178-76339191 chr2:76339180-76339189 chr2:76339178-76339189
6	CEBPB	chr2:76338551-76338806	A549	lung:	n/a	chr2:76338700-76338711 chr2:76338671-76338684
7	CEBPB	chr2:76338568-76339345	IMR90	lung:	n/a	chr2:76339178-76339191 chr2:76339178-76339189 chr2:76339180-76339189 chr2:76339179-76339190 chr2:76339180-76339189 chr2:76339180-76339189 chr2:76339178-76339191 chr2:76338700-76338711 chr2:76338671-76338684 chr2:76339180-76339189 chr2:76339178-76339189
8	CEBPB	chr2:76338556-76339360	K562	blood:	n/a	chr2:76339178-76339191 chr2:76339178-76339189 chr2:76339180-76339189 chr2:76339179-76339190 chr2:76339180-76339189 chr2:76339180-76339189 chr2:76339178-76339191 chr2:76338700-76338711 chr2:76338671-76338684 chr2:76339180-76339189 chr2:76339178-76339189
9	EBF1	chr2:76334098-76334122	GM12878	blood:	n/a	n/a
10	IRF1	chr2:76336272-76336289	K562	blood:	n/a	n/a
11	MAFF	chr2:76339338-76339425	HepG2	liver:	n/a	n/a
12	MAFK	chr2:76342733-76342917	HepG2	liver:	n/a	n/a
13	MAFK	chr2:76339292-76339558	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:76336377-76336554	ProgFib	skin:	n/a	n/a
15	POLR2A	chr2:76333807-76333906	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:76341733-76341864	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr2:76335898-76336016	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr2:76340942-76341033	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76337965-76338015	GM12892	blood:	n/a
2	chr2:76337965-76338015	NHDF-neo	bronchial:	n/a
3	chr2:76337965-76338015	HAEpiC	amniotic membrane:	n/a
4	chr2:76337965-76338015	AG10803	skin:	n/a
5	chr2:76337965-76338015	CMK	blood:	n/a
6	chr2:76337965-76338015	SAEC	small airway:	n/a
7	chr2:76337965-76338015	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:76337965-76338015	SKMC	muscle:	n/a
9	chr2:76337965-76338015	HIPEpiC	eye:	n/a
10	chr2:76337965-76338015	GM19239	blood:	n/a
11	chr2:76337965-76338015	HL-60	blood:	n/a
12	chr2:76337965-76338015	AG09319	gingival:	n/a
13	chr2:76337965-76338015	LNCaP	prostate:	n/a
14	chr2:76337965-76338015	Jurkat	blood:	n/a
15	chr2:76337965-76338015	NT2-D1	testis:	n/a
16	chr2:76337965-76338015	IMR90	lung:	fetal
17	chr2:76337965-76338015	AG09309	skin:	n/a
18	chr2:76337965-76338015	HRCEpiC	kidney:	n/a
19	chr2:76337965-76338015	U87	brain:	n/a
20	chr2:76337965-76338015	HEK293	kidney:	embryo
21	chr2:76337965-76338015	HMEC	breast:	n/a
22	chr2:76337965-76338015	H1-hESC	embryonic stem cell:	embryo
23	chr2:76337965-76338015	K562	blood:	n/a
24	chr2:76337965-76338015	BJ	skin:	n/a
25	chr2:76337965-76338015	HCM	heart:	n/a
26	chr2:76337965-76338015	GM12878	blood:	n/a
27	chr2:76337965-76338015	HNPCEpiC	eye:	n/a
28	chr2:76337965-76338015	HRPEpiC	eye:	n/a
29	chr2:76337965-76338015	ovcar-3	ovarian:	n/a
30	chr2:76337965-76338015	HCF	heart:	n/a
31	chr2:76337965-76338015	ProgFib	skin:	n/a
32	chr2:76337965-76338015	NHBE	bronchial:	n/a
33	chr2:76337965-76338015	BE2_C	brain:	n/a
34	chr2:76337965-76338015	AG04450	lung:	fetal
35	chr2:76337965-76338015	HCT-116	colon:	n/a
36	chr2:76337965-76338015	Caco-2	colon:	n/a
37	chr2:76337965-76338015	PANC-1	pancreas:	n/a
38	chr2:76337965-76338015	PrEC	prostate:	n/a
39	chr2:76337965-76338015	HRE	kidney:	n/a
40	chr2:76337965-76338015	SK-N-MC	brain:	n/a
41	chr2:76337965-76338015	MCF-7	breast:	n/a
42	chr2:76337965-76338015	SK-N-SH_RA	brain:	n/a
43	chr2:76337965-76338015	PFSK-1	brain:	n/a
44	chr2:76337965-76338015	HepG2	liver:	n/a
45	chr2:76337965-76338015	T-47D	breast:	n/a
46	chr2:76337965-76338015	NH-A	brain:	n/a
47	chr2:76337965-76338015	GM12891	blood:	n/a
48	chr2:76337965-76338015	NB4	blood:	n/a
49	chr2:76337965-76338015	Hela-S3	cervix:	n/a
50	chr2:76337965-76338015	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:76338514..76340857-chr2:76342428..76344349,2	K562	blood:
2	chr2:76291024..76293676-chr2:76337937..76340562,2	K562	blood:
3	chr2:76338514..76340857-chr2:76342428..76344349,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCFC2-2	chr2:76333142-76334450	NONHSAT071814

Variant related genes	Relation type
SUCLA2P2	TF binding region
SUCLA2P2	CpG island

Extended variants
information (count: 352 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1524210	chr2:76333150-76333151	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555722764	chr2:76333210-76333211	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200113664	chr2:76333221-76333222	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs556396708	chr2:76333230-76333231	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556146812	chr2:76333251-76333252	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs116545922	chr2:76333292-76333293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142962208	chr2:76333307-76333308	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs573516655	chr2:76333313-76333314	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs182201176	chr2:76333352-76333353	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs187228358	chr2:76333366-76333367	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs192480654	chr2:76333367-76333368	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182294772	chr2:76333370-76333371	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs562549942	chr2:76333395-76333396	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs317295	chr2:76333436-76333437	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs145956312	chr2:76333471-76333472	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs186904041	chr2:76333528-76333529	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs74550711	chr2:76333544-76333545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs549239517	chr2:76333575-76333576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs115159668	chr2:76333603-76333604	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs538159022	chr2:76333617-76333618	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs554239470	chr2:76333663-76333664	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs572564066	chr2:76333725-76333726	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs577759065	chr2:76333727-76333728	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs540438272	chr2:76333740-76333741	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs538727686	chr2:76333780-76333781	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs139521718	chr2:76333823-76333824	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs115769359	chr2:76333829-76333830	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs540443048	chr2:76333830-76333831	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs17012173	chr2:76333852-76333853	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs574209394	chr2:76333884-76333885	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs544889087	chr2:76333895-76333896	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs115528016	chr2:76333897-76333898	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs190186566	chr2:76333909-76333910	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs35699549	chr2:76333916-76333917	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs182734189	chr2:76333926-76333927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs560242793	chr2:76333932-76333933	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs527808745	chr2:76333957-76333958	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs548871623	chr2:76333960-76333961	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs188555209	chr2:76333983-76333984	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113752346	chr2:76333988-76333989	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537746713	chr2:76334035-76334036	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs35861585	chr2:76334047-76334048	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577999764	chr2:76334059-76334060	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs571246066	chr2:76334082-76334083	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs538665404	chr2:76334083-76334084	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs192919372	chr2:76334089-76334090	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs565603185	chr2:76334101-76334102	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs149237126	chr2:76334114-76334115	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs555631494	chr2:76334117-76334118	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs574224852	chr2:76334151-76334152	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76332200-76337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76334000-76334400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:76334000-76334800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:76334400-76334600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:76334400-76338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:76334600-76335400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:76334800-76337600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:76335400-76336200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:76335400-76336200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:76336200-76337600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:76336200-76338600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:76337400-76337800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:76337600-76337800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:76337600-76338000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:76337600-76339200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:76337600-76339200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:76337600-76339200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:76337800-76338200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:76337800-76338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:76338000-76338400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:76338200-76338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:76338200-76339400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:76338400-76338600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:76338400-76338800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:76338400-76339000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:76338600-76339000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:76338600-76339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:76338600-76339000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:76338600-76340600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:76338800-76340600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:76339000-76340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:76339000-76340600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:76339200-76340400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:76339200-76340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:76339200-76340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:76339400-76340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:76340400-76340800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:76340600-76340800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:76340600-76340800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:76340600-76340800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:76340600-76340800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:76340600-76341000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:76340600-76341000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:76340600-76341000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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