Variant report

Variant	nsv604793
Chromosome Location	chr6:142214093-142283198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
2	chr16:67562536..67565391-chr6:142229996..142232688,2	MCF-7	breast:
3	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
4	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
5	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:
6	chr19:38893517..38894326-chr6:142280626..142281137,2	MCF-7	breast:
7	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
8	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:
9	chr6:142205375..142208180-chr6:142219479..142222189,2	K562	blood:
10	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:
11	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
12	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
13	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000039523	chromatin interactions
ENSG00000130244	chromatin interactions

Extended variants
information (count: 1530 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1530 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs877953	chr6:142214093-142214094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551870398	chr6:142214098-142214099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530720350	chr6:142214152-142214153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555076765	chr6:142214185-142214186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374605919	chr6:142214200-142214201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180681910	chr6:142214234-142214235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534979506	chr6:142214246-142214247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370501275	chr6:142214248-142214249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547230394	chr6:142214330-142214331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568629947	chr6:142214344-142214345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535956315	chr6:142214366-142214367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557538709	chr6:142214382-142214383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575641413	chr6:142214392-142214393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568434634	chr6:142214472-142214473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184209099	chr6:142214515-142214516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557846591	chr6:142214524-142214525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577092098	chr6:142214545-142214546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7760213	chr6:142214564-142214565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559122039	chr6:142214661-142214662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189459189	chr6:142214677-142214678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377095011	chr6:142214683-142214684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116047783	chr6:142214696-142214697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376219428	chr6:142214728-142214729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368617411	chr6:142214785-142214786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182093542	chr6:142214812-142214813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139678715	chr6:142214821-142214822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150027145	chr6:142214931-142214932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568768473	chr6:142214980-142214981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76674932	chr6:142215003-142215004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536096906	chr6:142215020-142215021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186692378	chr6:142215035-142215036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62431978	chr6:142215047-142215048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377046504	chr6:142215088-142215089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569363375	chr6:142215112-142215113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192476981	chr6:142215141-142215142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558151264	chr6:142215189-142215190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118003489	chr6:142215199-142215200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35010159	chr6:142215224-142215225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144350041	chr6:142215275-142215276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201344952	chr6:142215283-142215284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201851455	chr6:142215291-142215292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60429601	chr6:142215292-142215293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200812564	chr6:142215293-142215294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539348987	chr6:142215294-142215295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541649654	chr6:142215359-142215360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563113862	chr6:142215380-142215381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181858791	chr6:142215382-142215383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12204765	chr6:142215388-142215389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148785983	chr6:142215407-142215408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142478349	chr6:142215411-142215412	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
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142209000-142215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:142215000-142215200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:142215000-142215600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:142220600-142221000	Enhancers	Rectal Smooth Muscle	rectum
5	chr6:142229600-142229800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:142229600-142230000	Active TSS	Liver	Liver
7	chr6:142229800-142230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:142230000-142230800	Weak transcription	Liver	Liver
9	chr6:142230800-142231000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:142230800-142231200	Enhancers	Liver	Liver
11	chr6:142231000-142246200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:142237600-142238000	Active TSS	K562	blood
13	chr6:142244000-142244400	Weak transcription	K562	blood
14	chr6:142244400-142244600	ZNF genes & repeats	K562	blood
15	chr6:142244600-142247400	Weak transcription	K562	blood
16	chr6:142246000-142246600	Enhancers	HSMM	muscle
17	chr6:142246200-142246400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:142246200-142246600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:142246200-142246600	Enhancers	Fetal Heart	heart
20	chr6:142246400-142246600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:142246400-142246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:142253000-142253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:142253200-142261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:142253800-142254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:142261000-142261200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:142272400-142274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:142274200-142274600	ZNF genes & repeats	Liver	Liver
28	chr6:142274200-142274800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:142274200-142276200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:142274400-142275400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:142274400-142276000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr6:142274600-142275400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:142274600-142276800	Weak transcription	Liver	Liver
34	chr6:142274800-142284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:142275200-142275600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr6:142275400-142276200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr6:142275400-142277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:142275400-142278000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:142275800-142276000	Enhancers	Aorta	Aorta
40	chr6:142276000-142276200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:142276000-142276600	Weak transcription	Aorta	Aorta
42	chr6:142276000-142277200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:142276000-142277800	Enhancers	Stomach Smooth Muscle	stomach
44	chr6:142276200-142276400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:142276200-142277200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:142276200-142277800	Enhancers	Ovary	ovary
47	chr6:142276400-142276600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:142276400-142276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:142276400-142277200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:142276600-142279000	Enhancers	Aorta	Aorta

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