Variant report

Variant	nsv969451
Chromosome Location	chr6:139933131-139942320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:139932437-139933327	K562	blood:	n/a	n/a
2	ARID3A	chr6:139938975-139938984	K562	blood:	n/a	n/a
3	BACH1	chr6:139933906-139933940	K562	blood:	n/a	n/a
4	CTCF	chr6:139935554-139935600	LNCaP	prostate:	n/a	n/a
5	EP300	chr6:139938848-139939127	K562	blood:	n/a	n/a
6	EP300	chr6:139932448-139933415	K562	blood:	n/a	n/a
7	GATA1	chr6:139931929-139933762	K562	blood:	n/a	n/a
8	IRF1	chr6:139938683-139939105	K562	blood:	n/a	n/a
9	IRF1	chr6:139932563-139933236	K562	blood:	n/a	chr6:139933035-139933052
10	IRF1	chr6:139933382-139933651	K562	blood:	n/a	n/a
11	MAFF	chr6:139934691-139934992	K562	blood:	n/a	n/a
12	MAFK	chr6:139934692-139935005	K562	blood:	n/a	n/a
13	MAFK	chr6:139934786-139934929	HepG2	liver:	n/a	n/a
14	MYC	chr6:139932415-139933347	K562	blood:	n/a	n/a
15	NR2F2	chr6:139938851-139939148	K562	blood:	n/a	n/a
16	POLR2A	chr6:139939721-139939776	Gliobla	brain:	n/a	n/a
17	POLR2A	chr6:139939834-139939837	Gliobla	brain:	n/a	n/a
18	RCOR1	chr6:139938804-139939166	K562	blood:	n/a	n/a
19	RFX5	chr6:139940331-139940425	K562	blood:	n/a	n/a
20	SPI1	chr6:139938902-139939098	K562	blood:	n/a	n/a
21	SPI1	chr6:139938950-139939183	K562	blood:	n/a	n/a
22	STAT5A	chr6:139938851-139939159	K562	blood:	n/a	n/a
23	TAL1	chr6:139938855-139939164	K562	blood:	n/a	n/a
24	TEAD4	chr6:139932214-139933210	K562	blood:	n/a	n/a
25	TEAD4	chr6:139938595-139939248	K562	blood:	n/a	n/a
26	ZNF384	chr6:139939550-139939783	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:139930810..139933752-chr6:140097356..140098943,2	K562	blood:
2	chr6:139695674..139697461-chr6:139931043..139933413,2	MCF-7	breast:
3	chr6:139927028..139928862-chr6:139932935..139935592,3	K562	blood:
4	chr6:139933085..139934923-chr6:139946118..139948302,2	K562	blood:

No data

Variant related genes	Relation type
ATP5F1P6	TF binding region
ENSG00000164442	chromatin interactions

Extended variants
information (count: 336 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564808300	chr6:139933166-139933167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183127070	chr6:139933212-139933213	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547391752	chr6:139933214-139933215	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78902163	chr6:139933279-139933280	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529849004	chr6:139933330-139933331	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548297882	chr6:139933389-139933390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564400246	chr6:139933395-139933396	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550087378	chr6:139933407-139933408	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139427976	chr6:139933415-139933416	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537253738	chr6:139933436-139933437	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34785760	chr6:139933484-139933485	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34591290	chr6:139933496-139933497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552046486	chr6:139933536-139933537	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188152767	chr6:139933655-139933656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551582068	chr6:139933673-139933674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61654804	chr6:139933708-139933709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572767680	chr6:139933709-139933710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552979937	chr6:139933719-139933720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192935147	chr6:139933746-139933747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535597535	chr6:139933794-139933795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200612625	chr6:139933795-139933796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557036114	chr6:139933875-139933876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565452898	chr6:139933885-139933886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150059276	chr6:139934039-139934040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546391642	chr6:139934074-139934075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534404544	chr6:139934085-139934086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200867744	chr6:139934089-139934090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117307792	chr6:139934094-139934095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537784292	chr6:139934165-139934166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564494462	chr6:139934253-139934254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145378381	chr6:139934310-139934311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184382525	chr6:139934314-139934315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559432167	chr6:139934319-139934320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529711416	chr6:139934327-139934328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548161146	chr6:139934345-139934346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148770724	chr6:139934387-139934388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144778966	chr6:139934412-139934413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557300258	chr6:139934429-139934430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570534090	chr6:139934450-139934451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112980681	chr6:139934459-139934460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187912323	chr6:139934473-139934474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567966145	chr6:139934481-139934482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535463532	chr6:139934501-139934502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192680575	chr6:139934516-139934517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575715317	chr6:139934522-139934523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573631194	chr6:139934531-139934532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370068892	chr6:139934546-139934547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539525692	chr6:139934574-139934575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9495540	chr6:139934615-139934616	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573346945	chr6:139934768-139934769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	17908304	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
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
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139929200-139941000	Weak transcription	Aorta	Aorta
2	chr6:139929200-139944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:139931600-139933600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:139932000-139933600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:139932000-139933800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:139932200-139933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:139932200-139933600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:139932200-139935000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:139932400-139933400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:139932400-139933600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:139932600-139933400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:139932600-139933400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:139932600-139933600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:139932600-139933600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:139932600-139933800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:139932800-139933200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:139932800-139933200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:139932800-139933200	Flanking Active TSS	K562	blood
19	chr6:139932800-139933600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:139932800-139934000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:139933200-139933400	Enhancers	K562	blood
22	chr6:139933400-139938600	Weak transcription	K562	blood
23	chr6:139933600-139933800	Enhancers	Primary B cells from cord blood	blood
24	chr6:139933600-139934000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:139933600-139935200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:139933600-139935800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:139933800-139934800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:139934000-139935000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:139934800-139935000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:139935200-139938800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:139935800-139936000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:139938600-139939600	Enhancers	K562	blood
33	chr6:139940200-139941200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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