Variant report

Variant	nsv1022304
Chromosome Location	chr8:51442784-51475071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:51448363-51448441	K562	blood:	n/a	n/a
2	CEBPB	chr8:51442889-51443030	H1-hESC	embryonic stem cell:	n/a	chr8:51442918-51442929 chr8:51442920-51442931 chr8:51442918-51442931
3	CEBPB	chr8:51463003-51463270	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr8:51442847-51443072	HepG2	liver:	n/a	chr8:51442918-51442929 chr8:51442920-51442931 chr8:51442918-51442931
5	CEBPB	chr8:51442567-51443109	Hela-S3	cervix:	n/a	chr8:51442578-51442589 chr8:51442918-51442929 chr8:51442920-51442931 chr8:51442918-51442931
6	CEBPB	chr8:51463151-51463193	HepG2	liver:	n/a	n/a
7	CTCF	chr8:51470780-51470930	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:51475000-51475150	HAc	cerebellar:	n/a	n/a
9	CTCF	chr8:51475054-51475115	HUVEC	blood vessel:	n/a	n/a
10	E2F4	chr8:51444560-51444976	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:51469187-51469448	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr8:51474316-51474516	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr8:51442755-51442955	SH-SY5Y	brain:	n/a	n/a
14	IRF3	chr8:51456417-51456523	GM12878	blood:	n/a	n/a
15	KAP1	chr8:51450705-51451134	K562	blood:	n/a	n/a
16	MAFK	chr8:51443195-51443295	HepG2	liver:	n/a	chr8:51443227-51443242
17	MAFK	chr8:51443148-51443343	HepG2	liver:	n/a	chr8:51443227-51443242
18	MAFK	chr8:51455647-51455798	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr8:51451428-51451656	HepG2	liver:	n/a	n/a
20	MAX	chr8:51473181-51473373	NB4	blood:	n/a	chr8:51473230-51473240
21	MAX	chr8:51444267-51444299	NB4	blood:	n/a	n/a
22	MYC	chr8:51459848-51459869	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr8:51445071-51445152	GM12878	blood:	n/a	n/a
24	MYC	chr8:51452071-51452214	MCF-7	breast:	n/a	n/a
25	MYC	chr8:51452437-51452445	MCF10A-Er-Src	breast:	n/a	n/a
26	NFYA	chr8:51450330-51450435	GM12878	blood:	n/a	n/a
27	NRF1	chr8:51465034-51465037	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:51469458-51469489	Gliobla	brain:	n/a	n/a
29	POLR2A	chr8:51455214-51455269	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr8:51468844-51468981	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr8:51452088-51452167	MCF-7	breast:	n/a	n/a
32	POLR2A	chr8:51448426-51448495	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr8:51452251-51452282	Gliobla	brain:	n/a	n/a
34	POLR2A	chr8:51452033-51452236	Gliobla	brain:	n/a	n/a
35	POLR2A	chr8:51447883-51447954	Gliobla	brain:	n/a	n/a
36	POLR2A	chr8:51452106-51452136	A549	lung:	n/a	n/a
37	POLR2A	chr8:51463054-51463235	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr8:51471097-51471246	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr8:51442731-51442823	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:51444156-51444181	Gliobla	brain:	n/a	n/a
41	POLR2A	chr8:51452090-51452204	MCF-7	breast:	n/a	n/a
42	RAD21	chr8:51474899-51475176	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr8:51474942-51475188	SK-N-SH_RA	brain:	n/a	n/a
44	RAD21	chr8:51474926-51475224	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr8:51474939-51475176	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr8:51474860-51475144	SK-N-SH_RA	brain:	n/a	n/a
47	RAD21	chr8:51474797-51475430	SK-N-SH	brain:	n/a	chr8:51475420-51475427
48	REST	chr8:51460211-51461014	H1-neurons	neurons:	n/a	n/a
49	STAT3	chr8:51446037-51446237	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr8:51469183-51469449	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:51449266-51449316	MCF-7	breast:	n/a
2	chr8:51449266-51449316	Jurkat	blood:	n/a
3	chr8:51449266-51449316	SK-N-SH	brain:	n/a
4	chr8:51449266-51449316	HRPEpiC	eye:	n/a
5	chr8:51449266-51449316	AG04449	skin:	fetal
6	chr8:51449266-51449316	AG09319	gingival:	n/a
7	chr8:51449266-51449316	U87	brain:	n/a
8	chr8:51449266-51449316	AG09309	skin:	n/a
9	chr8:51449266-51449316	HCM	heart:	n/a
10	chr8:51449266-51449316	H1-hESC	embryonic stem cell:	embryo
11	chr8:51449266-51449316	NT2-D1	testis:	n/a
12	chr8:51449266-51449316	LNCaP	prostate:	n/a
13	chr8:51449266-51449316	Caco-2	colon:	n/a
14	chr8:51449266-51449316	GM19239	blood:	n/a
15	chr8:51449266-51449316	Hela-S3	cervix:	n/a
16	chr8:51449266-51449316	RPTEC	kidney:	n/a
17	chr8:51449266-51449316	HUVEC	blood vessel:	n/a
18	chr8:51449266-51449316	HCPEpiC	choroid plexus:	n/a
19	chr8:51449266-51449316	BJ	skin:	n/a
20	chr8:51449266-51449316	HL-60	blood:	n/a
21	chr8:51449266-51449316	NH-A	brain:	n/a
22	chr8:51449266-51449316	SAEC	small airway:	n/a
23	chr8:51449266-51449316	NHBE	bronchial:	n/a
24	chr8:51449266-51449316	PFSK-1	brain:	n/a
25	chr8:51449266-51449316	GM12892	blood:	n/a
26	chr8:51449266-51449316	ProgFib	skin:	n/a
27	chr8:51449266-51449316	MCF10A-Er-Src	breast:	n/a
28	chr8:51449266-51449316	HIPEpiC	eye:	n/a
29	chr8:51449266-51449316	HRCEpiC	kidney:	n/a
30	chr8:51449266-51449316	T-47D	breast:	n/a
31	chr8:51449266-51449316	SK-N-SH_RA	brain:	n/a
32	chr8:51449266-51449316	GM12891	blood:	n/a
33	chr8:51449266-51449316	AoSMC	blood vessel:	n/a
34	chr8:51449266-51449316	NB4	blood:	n/a
35	chr8:51449266-51449316	HEK293	kidney:	embryo
36	chr8:51449266-51449316	AG10803	skin:	n/a
37	chr8:51449266-51449316	SK-N-MC	brain:	n/a
38	chr8:51449266-51449316	K562	blood:	n/a
39	chr8:51449266-51449316	HCT-116	colon:	n/a
40	chr8:51449266-51449316	GM06990	blood:	n/a
41	chr8:51449266-51449316	HAEpiC	amniotic membrane:	n/a
42	chr8:51449266-51449316	IMR90	lung:	fetal
43	chr8:51449266-51449316	ECC-1	luminal epithelium:	n/a
44	chr8:51449266-51449316	HepG2	liver:	n/a
45	chr8:51449266-51449316	HEEpiC	esophagus:	n/a
46	chr8:51449266-51449316	HPAEpiC	pulmonary alveolar:	n/a
47	chr8:51449266-51449316	PANC-1	pancreas:	n/a
48	chr8:51449266-51449316	HCF	heart:	n/a
49	chr8:51449266-51449316	HMEC	breast:	n/a
50	chr8:51449266-51449316	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
SNTG1	TF binding region
SNTG1	CpG island

Extended variants
information (count: 1388 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1388 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375740010	chr8:51442789-51442790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201496023	chr8:51442804-51442805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200788323	chr8:51442830-51442831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111774482	chr8:51442839-51442840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147731124	chr8:51442840-51442841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372238274	chr8:51442858-51442859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75394660	chr8:51442864-51442865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185825638	chr8:51442872-51442873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111374001	chr8:51442891-51442892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544350687	chr8:51442901-51442902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548482683	chr8:51442907-51442908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111304917	chr8:51442964-51442965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574896325	chr8:51442983-51442984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542551725	chr8:51442984-51442985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs33960420	chr8:51442989-51442990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560764256	chr8:51442993-51442994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527312782	chr8:51443004-51443005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552189225	chr8:51443021-51443022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190473230	chr8:51443032-51443033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531459371	chr8:51443053-51443054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549569473	chr8:51443069-51443070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142487106	chr8:51443077-51443078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535284941	chr8:51443102-51443103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547314607	chr8:51443126-51443127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180720348	chr8:51443160-51443161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185112755	chr8:51443179-51443180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59010221	chr8:51443231-51443232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113895330	chr8:51443283-51443284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558548629	chr8:51443293-51443294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146906339	chr8:51443309-51443310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374838049	chr8:51443315-51443316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368003147	chr8:51443376-51443377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2467203	chr8:51443429-51443430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs547514157	chr8:51443457-51443458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188358139	chr8:51443463-51443464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192844	chr8:51443479-51443480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2625733	chr8:51443541-51443542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs218876	chr8:51443564-51443565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs527259145	chr8:51443579-51443580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564076487	chr8:51443611-51443612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531196780	chr8:51443633-51443634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549893561	chr8:51443759-51443760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181345179	chr8:51443763-51443764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569895796	chr8:51443812-51443813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186699962	chr8:51443849-51443850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534775183	chr8:51443889-51443890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565510364	chr8:51443904-51443905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533059327	chr8:51443912-51443913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551219924	chr8:51443923-51443924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192007757	chr8:51443943-51443944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51441000-51469200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51444200-51444400	Enhancers	Gastric	stomach
3	chr8:51451200-51452000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:51452000-51452200	Enhancers	Spleen	Spleen
5	chr8:51452000-51452400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:51457200-51457400	Enhancers	Brain Germinal Matrix	brain
7	chr8:51457400-51469400	Weak transcription	Brain Germinal Matrix	brain
8	chr8:51458200-51469400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:51469200-51470200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:51469400-51470400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:51470200-51471200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:51470400-51472000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:51471200-51489400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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