Variant report

Variant	nsv519606
Chromosome Location	chr6:39229763-39230571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39195258..39199147-chr6:39228497..39232798,6	MCF-7	breast:
2	chr6:39228773..39231561-chr6:39235112..39238664,3	K562	blood:
3	chr6:39196024..39198619-chr6:39228608..39230535,2	K562	blood:
4	chr6:39223708..39225887-chr6:39227549..39230427,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164626	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs970392	chr6:39229763-39229764	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552510580	chr6:39229806-39229807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556299876	chr6:39229807-39229808	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373902802	chr6:39229902-39229903	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181383601	chr6:39229970-39229971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539264399	chr6:39229993-39229994	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558884676	chr6:39230024-39230025	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572724947	chr6:39230034-39230035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534989267	chr6:39230086-39230087	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554807249	chr6:39230109-39230110	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs151263744	chr6:39230113-39230114	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376255567	chr6:39230114-39230115	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542484779	chr6:39230123-39230124	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139787959	chr6:39230180-39230181	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562698435	chr6:39230190-39230191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543364667	chr6:39230228-39230229	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531752612	chr6:39230266-39230267	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1182864	chr6:39230307-39230308	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs564938429	chr6:39230344-39230345	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185302966	chr6:39230375-39230376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564916551	chr6:39230400-39230401	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527447865	chr6:39230437-39230438	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138872636	chr6:39230450-39230451	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73418691	chr6:39230469-39230470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4711589	chr6:39230571-39230572	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39224400-39231000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:39224400-39238400	Weak transcription	Spleen	Spleen
3	chr6:39224600-39230800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:39225000-39231000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:39227200-39231000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:39227200-39236000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:39227800-39230600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:39228400-39234600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:39228600-39229800	Enhancers	Liver	Liver
10	chr6:39229000-39230400	Enhancers	Fetal Intestine Small	intestine
11	chr6:39229000-39231400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:39229000-39231800	Enhancers	Fetal Intestine Large	intestine
13	chr6:39229200-39230000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:39229200-39230400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:39229200-39230400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:39229400-39231000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:39229600-39230400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:39229800-39230800	Weak transcription	Liver	Liver
19	chr6:39230000-39235000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:39230400-39230800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:39230400-39230800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:39230400-39230800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:39230400-39230800	Weak transcription	Fetal Intestine Small	intestine

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