Variant report

Variant	nsv965777
Chromosome Location	chr6:144520169-144522526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:144521868-144522117	T-47D	breast:	n/a	n/a
2	POLR2A	chr6:144522082-144522177	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:144521840-144521893	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:144522071-144522179	MCF-7	breast:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:144522181-144522231	NH-A	brain:	n/a
2	chr6:144522181-144522231	NH-A	brain:	n/a
3	chr6:144522181-144522231	NT2-D1	testis:	n/a
4	chr6:144522181-144522231	AG04449	skin:	fetal
5	chr6:144522181-144522231	CMK	blood:	n/a
6	chr6:144522181-144522231	SKMC	muscle:	n/a
7	chr6:144522181-144522231	BE2_C	brain:	n/a
8	chr6:144522181-144522231	GM06990	blood:	n/a
9	chr6:144522181-144522231	AG09319	gingival:	n/a
10	chr6:144522181-144522231	A549	lung:	n/a
11	chr6:144522181-144522231	PANC-1	pancreas:	n/a
12	chr6:144522181-144522231	Jurkat	blood:	n/a
13	chr6:144522181-144522231	HNPCEpiC	eye:	n/a
14	chr6:144522181-144522231	MCF10A-Er-Src	breast:	n/a
15	chr6:144522181-144522231	RPTEC	kidney:	n/a
16	chr6:144522181-144522231	AG10803	skin:	n/a
17	chr6:144522181-144522231	HCT-116	colon:	n/a
18	chr6:144522181-144522231	HIPEpiC	eye:	n/a
19	chr6:144522181-144522231	HRE	kidney:	n/a
20	chr6:144522181-144522231	PrEC	prostate:	n/a
21	chr6:144522181-144522231	HMEC	breast:	n/a
22	chr6:144522181-144522231	BJ	skin:	n/a
23	chr6:144522181-144522231	SK-N-MC	brain:	n/a
24	chr6:144522181-144522231	HEEpiC	esophagus:	n/a
25	chr6:144522181-144522231	GM12891	blood:	n/a
26	chr6:144522181-144522231	T-47D	breast:	n/a
27	chr6:144522181-144522231	NHDF-neo	bronchial:	n/a
28	chr6:144522181-144522231	H1-hESC	embryonic stem cell:	embryo
29	chr6:144522181-144522231	SK-N-SH_RA	brain:	n/a
30	chr6:144522181-144522231	HCPEpiC	choroid plexus:	n/a
31	chr6:144522181-144522231	SAEC	small airway:	n/a
32	chr6:144522181-144522231	HCF	heart:	n/a
33	chr6:144522181-144522231	HAEpiC	amniotic membrane:	n/a
34	chr6:144522181-144522231	AG04450	lung:	fetal
35	chr6:144522181-144522231	LNCaP	prostate:	n/a
36	chr6:144522181-144522231	U87	brain:	n/a
37	chr6:144522181-144522231	HRCEpiC	kidney:	n/a
38	chr6:144522181-144522231	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:144522181-144522231	MCF-7	breast:	n/a
40	chr6:144522181-144522231	PFSK-1	brain:	n/a
41	chr6:144522181-144522231	HRPEpiC	eye:	n/a
42	chr6:144522181-144522231	GM12892	blood:	n/a
43	chr6:144522181-144522231	HepG2	liver:	n/a
44	chr6:144522181-144522231	HUVEC	blood vessel:	n/a
45	chr6:144522181-144522231	SK-N-SH	brain:	n/a
46	chr6:144522181-144522231	GM19239	blood:	n/a
47	chr6:144522181-144522231	HL-60	blood:	n/a
48	chr6:144522181-144522231	IMR90	lung:	fetal
49	chr6:144522181-144522231	AG09309	skin:	n/a
50	chr6:144522181-144522231	ProgFib	skin:	n/a

No data

Variant related genes	Relation type
TPT1P4	TF binding region
TPT1P4	CpG island

Extended variants
information (count: 112 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142831127	chr6:144520213-144520214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545569745	chr6:144520220-144520221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182627715	chr6:144520252-144520253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187826088	chr6:144520257-144520258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147401266	chr6:144520263-144520264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192598744	chr6:144520271-144520272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7759718	chr6:144520277-144520278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533311294	chr6:144520304-144520305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371170160	chr6:144520374-144520375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76913465	chr6:144520399-144520400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566920974	chr6:144520426-144520427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138222480	chr6:144520431-144520432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6903726	chr6:144520494-144520495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs201398896	chr6:144520502-144520503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537690919	chr6:144520569-144520570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556038601	chr6:144520637-144520638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576637861	chr6:144520645-144520646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75327627	chr6:144520693-144520694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538590273	chr6:144520712-144520713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553506358	chr6:144520717-144520718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544404288	chr6:144520727-144520728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572033616	chr6:144520743-144520744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141800874	chr6:144520753-144520754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561003720	chr6:144520754-144520755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574278739	chr6:144520768-144520769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6570610	chr6:144520863-144520864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183021076	chr6:144520890-144520891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533471225	chr6:144520896-144520897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577995114	chr6:144520897-144520898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551723495	chr6:144520903-144520904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113959918	chr6:144520931-144520932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527720903	chr6:144520932-144520933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540157502	chr6:144520972-144520973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549056735	chr6:144521040-144521041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567467713	chr6:144521080-144521081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537604831	chr6:144521081-144521082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200159811	chr6:144521083-144521084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549577140	chr6:144521101-144521102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7764702	chr6:144521113-144521114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200938150	chr6:144521166-144521167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187643255	chr6:144521184-144521185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117380062	chr6:144521216-144521217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115156301	chr6:144521224-144521225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562731683	chr6:144521225-144521226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376238336	chr6:144521234-144521235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192205378	chr6:144521308-144521309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11969019	chr6:144521314-144521315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149654334	chr6:144521331-144521332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111853146	chr6:144521338-144521339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35272838	chr6:144521348-144521349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144509400-144520200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:144516200-144522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:144517400-144523400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:144518800-144520600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr6:144519400-144520800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr6:144519800-144520600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:144520000-144520400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:144520000-144520400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:144520000-144520400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr6:144520000-144520600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:144520000-144520600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:144520000-144520800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:144520200-144520800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:144522000-144522200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:144522000-144522200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr6:144522200-144530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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