Variant report

Variant	nsv830823
Chromosome Location	chr6:142111420-142305417
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:32)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
2	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:
3	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
4	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
5	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:
6	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:
7	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
8	chr6:142205375..142208180-chr6:142219479..142222189,2	K562	blood:
9	chr16:67562536..67565391-chr6:142229996..142232688,2	MCF-7	breast:
10	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:
11	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
12	chr6:142128195..142130687-chr6:142132309..142133838,2	K562	blood:
13	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
14	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
15	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
16	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
17	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:
18	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
19	chr19:38893517..38894326-chr6:142280626..142281137,2	MCF-7	breast:
20	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
21	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
22	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
23	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
24	chr6:142134176..142136640-chr6:142390128..142392173,2	K562	blood:
25	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
26	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
27	chr6:142205375..142208180-chr6:142219479..142222189,2	K562	blood:
28	chr6:142128195..142130687-chr6:142132309..142133838,2	K562	blood:
29	chr6:142124743..142126813-chr6:142127411..142130975,3	K562	blood:
30	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
31	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:
32	chr6:142124743..142126813-chr6:142127411..142130975,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJE1-7	chr6:142198752-142199114	NONHSAT115300
2	lnc-GJE1-7	chr6:142199849-142200254	NONHSAT115300

No data

Variant related genes	Relation type
ENSG00000130244	chromatin interactions
ENSG00000039523	chromatin interactions

Extended variants
information (count: 3995 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3995 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376029480	chr6:142111421-142111422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559265671	chr6:142111448-142111449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529938268	chr6:142111506-142111507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9484552	chr6:142111531-142111532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537129865	chr6:142111554-142111555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552021943	chr6:142111592-142111593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375652660	chr6:142111642-142111643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370989088	chr6:142111643-142111644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534367702	chr6:142111689-142111690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191578366	chr6:142111723-142111724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568730019	chr6:142111761-142111762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536170423	chr6:142111771-142111772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148612009	chr6:142111786-142111787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575936682	chr6:142111831-142111832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577677292	chr6:142111861-142111862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141181209	chr6:142111940-142111941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558008777	chr6:142111942-142111943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559164204	chr6:142111965-142111966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540225470	chr6:142112025-142112026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575909781	chr6:142112045-142112046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150755259	chr6:142112063-142112064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34142348	chr6:142112066-142112067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139876170	chr6:142112117-142112118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541752759	chr6:142112182-142112183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372220771	chr6:142112246-142112247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149832444	chr6:142112284-142112285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557698203	chr6:142112306-142112307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372018408	chr6:142112310-142112311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376384044	chr6:142112334-142112335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552247710	chr6:142112353-142112354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570404906	chr6:142112370-142112371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559895154	chr6:142112441-142112442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9484553	chr6:142112455-142112456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs546584918	chr6:142112503-142112504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375425594	chr6:142112559-142112560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574346733	chr6:142112594-142112595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9496143	chr6:142112619-142112620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373474515	chr6:142112705-142112706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557719939	chr6:142112708-142112709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569422436	chr6:142112715-142112716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562800921	chr6:142112754-142112755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558331674	chr6:142112774-142112775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369177031	chr6:142112799-142112800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115665991	chr6:142112800-142112801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560000004	chr6:142112815-142112816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554190583	chr6:142112842-142112843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573733035	chr6:142112871-142112872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114052348	chr6:142112895-142112896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374249835	chr6:142112975-142112976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563291524	chr6:142113024-142113025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
early-passage human iPS cells	21368824	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142107200-142111800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:142107200-142112200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:142107400-142111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:142111000-142111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:142111800-142112600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:142111800-142112600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:142111800-142112800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:142112200-142112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:142112200-142112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:142112800-142115400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:142124800-142133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:142125000-142125200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:142125000-142126800	Enhancers	HSMM	muscle
14	chr6:142125800-142126600	Enhancers	HSMMtube	muscle
15	chr6:142126800-142131000	Weak transcription	HSMM	muscle
16	chr6:142128600-142130000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:142128800-142130000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:142128800-142130200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:142129000-142130200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:142129400-142130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:142129600-142130000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:142129600-142130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:142129800-142130000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:142130000-142132000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:142130000-142132000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:142130000-142132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:142130200-142131000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:142130200-142131600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:142130200-142132000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:142131000-142131400	Enhancers	HSMM	muscle
31	chr6:142131000-142132600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:142131800-142132000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:142132000-142132400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:142132200-142132400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:142132200-142132400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:142132600-142132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:142132600-142133000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:142132600-142133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:142132800-142133200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:142132800-142133400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:142133000-142133200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:142133000-142133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:142133200-142134200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:142133200-142134800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:142134200-142135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:142134800-142135000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:142135400-142136200	Active TSS	K562	blood
48	chr6:142143600-142145200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:142143600-142146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:142145200-142145800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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