Variant report

Variant	nsv538458
Chromosome Location	chr6:142131846-142333198
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:43)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
2	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
3	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
4	chr6:142205375..142208180-chr6:142219479..142222189,2	K562	blood:
5	chr6:142310160..142310940-chr6:142392407..142393314,2	MCF-7	breast:
6	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:
7	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
8	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
9	chr6:142128195..142130687-chr6:142132309..142133838,2	K562	blood:
10	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
11	chr6:142310081..142310988-chr6:142433318..142434235,4	K562	blood:
12	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:
13	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:
14	chr6:142310166..142311225-chr6:142433178..142434296,3	MCF-7	breast:
15	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
16	chr6:142309853..142311057-chr6:142366249..142367364,12	MCF-7	breast:
17	chr6:142310101..142311090-chr6:142528288..142529452,4	K562	blood:
18	chr6:142331145..142333500-chr6:142346672..142348652,2	K562	blood:
19	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:
20	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:
21	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
22	chr19:38893517..38894326-chr6:142280626..142281137,2	MCF-7	breast:
23	chr6:142310139..142312531-chr6:142319798..142322173,2	K562	blood:
24	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
25	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
26	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:
27	chr6:142329102..142331805-chr7:35011843..35013358,2	MCF-7	breast:
28	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
29	chr16:67562536..67565391-chr6:142229996..142232688,2	MCF-7	breast:
30	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
31	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
32	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
33	chr6:142310115..142310645-chr6:142364498..142365481,2	MCF-7	breast:
34	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
35	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
36	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
37	chr6:142134176..142136640-chr6:142390128..142392173,2	K562	blood:
38	chr6:141998651..141999214-chr6:142310161..142310947,2	MCF-7	breast:
39	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
40	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
41	chr6:142310139..142312531-chr6:142319798..142322173,2	K562	blood:
42	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
43	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	chr6:142198752-142199114	NONHSAT115300
2	lnc-GJE1-7	chr6:142199849-142200254	NONHSAT115300

No data

Variant related genes	Relation type
ENSG00000039523	chromatin interactions
ENSG00000173852	chromatin interactions
ENSG00000130244	chromatin interactions

Extended variants
information (count: 4596 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4596 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140026183	chr6:142131846-142131847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75000222	chr6:142131853-142131854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548215795	chr6:142131877-142131878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182331490	chr6:142131932-142131933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531261962	chr6:142131950-142131951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11961256	chr6:142131976-142131977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571097718	chr6:142132029-142132030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570039966	chr6:142132131-142132132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143206304	chr6:142132132-142132133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534807476	chr6:142132192-142132193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553388402	chr6:142132256-142132257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144758009	chr6:142132259-142132260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374538907	chr6:142132267-142132268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537056411	chr6:142132282-142132283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376944032	chr6:142132398-142132399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11966269	chr6:142132442-142132443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556956227	chr6:142132477-142132478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372553272	chr6:142132484-142132485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556878323	chr6:142132554-142132555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185702364	chr6:142132559-142132560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148449755	chr6:142132561-142132562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558320174	chr6:142132635-142132636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73777255	chr6:142132639-142132640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540872255	chr6:142132646-142132647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374371253	chr6:142132659-142132660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12205677	chr6:142132705-142132706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559359258	chr6:142132718-142132719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73777256	chr6:142132767-142132768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371837658	chr6:142132788-142132789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541825382	chr6:142132794-142132795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140583691	chr6:142132801-142132802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531222808	chr6:142132805-142132806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555808377	chr6:142132815-142132816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144523045	chr6:142132837-142132838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112840360	chr6:142132909-142132910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147761549	chr6:142132923-142132924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528647911	chr6:142132979-142132980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368834133	chr6:142133016-142133017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115013547	chr6:142133143-142133144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140137572	chr6:142133145-142133146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568510958	chr6:142133149-142133150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149903333	chr6:142133192-142133193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556919449	chr6:142133208-142133209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568949341	chr6:142133222-142133223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144960509	chr6:142133281-142133282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536895550	chr6:142133293-142133294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558382079	chr6:142133327-142133328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556599294	chr6:142133376-142133377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574295804	chr6:142133402-142133403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148976558	chr6:142133414-142133415	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:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142124800-142133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:142130000-142132000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:142130000-142132000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:142130000-142132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:142130200-142132000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:142131000-142132600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:142131800-142132000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:142132000-142132400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:142132200-142132400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:142132200-142132400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:142132600-142132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:142132600-142133000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:142132600-142133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:142132800-142133200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:142132800-142133400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:142133000-142133200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:142133000-142133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:142133200-142134200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:142133200-142134800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:142134200-142135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:142134800-142135000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:142135400-142136200	Active TSS	K562	blood
23	chr6:142143600-142145200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:142143600-142146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:142145200-142145800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:142145200-142145800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr6:142145200-142145800	Enhancers	Hela-S3	cervix
28	chr6:142145400-142145800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr6:142145400-142145800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:142145600-142145800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr6:142145600-142145800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr6:142145800-142149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:142145800-142149800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:142145800-142149800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:142145800-142150200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:142145800-142150400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:142146400-142148800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:142148200-142148600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr6:142148600-142150400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:142148600-142152400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:142148800-142152400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:142148800-142152400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:142149800-142150400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:142149800-142151600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:142149800-142152400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:142150200-142150400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:142150200-142151800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:142150200-142152200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:142150200-142154400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:142150400-142150600	Active TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links