Variant report

Variant	nsv886728
Chromosome Location	chr6:142130009-142245981
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:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

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

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

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

No data

Variant related genes	Relation type
ENSG00000039523	chromatin interactions

Extended variants
information (count: 2347 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2347 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9496146	chr6:142130009-142130010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572996299	chr6:142130036-142130037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141183624	chr6:142130054-142130055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538204150	chr6:142130091-142130092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547383548	chr6:142130098-142130099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566211027	chr6:142130112-142130113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191290183	chr6:142130115-142130116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs207467484	chr6:142130205-142130206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536978594	chr6:142130216-142130217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531239023	chr6:142130252-142130253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143504640	chr6:142130259-142130260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79525204	chr6:142130294-142130295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564795909	chr6:142130332-142130333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537537712	chr6:142130353-142130354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74779400	chr6:142130369-142130370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183476055	chr6:142130382-142130383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187071791	chr6:142130397-142130398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559725013	chr6:142130443-142130444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572232015	chr6:142130445-142130446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17071159	chr6:142130486-142130487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148349161	chr6:142130507-142130508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192856544	chr6:142130602-142130603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75948508	chr6:142130626-142130627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564601776	chr6:142130667-142130668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532252172	chr6:142130712-142130713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9285495	chr6:142130754-142130755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141546033	chr6:142130762-142130763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185277011	chr6:142130776-142130777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373066205	chr6:142130882-142130883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548909883	chr6:142130885-142130886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370612692	chr6:142130897-142130898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570366289	chr6:142130922-142130923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537609125	chr6:142130948-142130949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34322346	chr6:142131071-142131072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199749737	chr6:142131112-142131113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78409965	chr6:142131141-142131142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564295434	chr6:142131164-142131165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565666182	chr6:142131296-142131297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577390585	chr6:142131343-142131344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150476317	chr6:142131385-142131386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138494857	chr6:142131390-142131391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558299214	chr6:142131410-142131411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528144715	chr6:142131451-142131452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370921976	chr6:142131461-142131462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73777254	chr6:142131555-142131556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541862905	chr6:142131623-142131624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117946518	chr6:142131691-142131692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575945896	chr6:142131693-142131694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549842413	chr6:142131721-142131722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567672461	chr6:142131747-142131748	Weak transcription Enhancers	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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142124800-142133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:142126800-142131000	Weak transcription	HSMM	muscle
3	chr6:142128800-142130200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:142129000-142130200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:142129400-142130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:142129600-142130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:142130000-142132000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:142130000-142132000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:142130000-142132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:142130200-142131000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:142130200-142131600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:142130200-142132000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:142131000-142131400	Enhancers	HSMM	muscle
14	chr6:142131000-142132600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:142131800-142132000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:142132000-142132400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:142132200-142132400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:142132200-142132400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:142132600-142132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:142132600-142133000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:142132600-142133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:142132800-142133200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:142132800-142133400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:142133000-142133200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:142133000-142133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:142133200-142134200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:142133200-142134800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:142134200-142135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:142134800-142135000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:142135400-142136200	Active TSS	K562	blood
31	chr6:142143600-142145200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:142143600-142146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:142145200-142145800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:142145200-142145800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr6:142145200-142145800	Enhancers	Hela-S3	cervix
36	chr6:142145400-142145800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr6:142145400-142145800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:142145600-142145800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr6:142145600-142145800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr6:142145800-142149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:142145800-142149800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:142145800-142149800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:142145800-142150200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:142145800-142150400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:142146400-142148800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:142148200-142148600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr6:142148600-142150400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:142148600-142152400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:142148800-142152400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:142148800-142152400	Enhancers	HUES64 Cell Line	embryonic stem cell

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