Variant report

Variant	nsv886577
Chromosome Location	chr6:120570796-120763235
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
2	chr6:120727203..120727781-chr6:121331449..121332021,2	MCF-7	breast:
3	chr6:120063490..120064041-chr6:120699487..120700386,2	MCF-7	breast:
4	chr6:120699475..120700058-chr6:121147497..121148100,2	MCF-7	breast:
5	chr17:57913954..57915888-chr6:120581005..120582642,2	MCF-7	breast:
6	chr6:120699482..120700334-chr6:121626863..121627717,3	MCF-7	breast:
7	chr6:120727187..120727711-chr6:121085206..121086111,2	MCF-7	breast:
8	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
9	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
10	chr6:120398336..120399006-chr6:120699718..120700358,2	MCF-7	breast:
11	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
12	chr6:120727129..120727677-chr6:121147123..121147638,2	MCF-7	breast:
13	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
14	chr6:120699511..120700307-chr6:121085174..121086152,2	MCF-7	breast:
15	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
16	chr6:120550876..120551654-chr6:120699476..120700307,2	MCF-7	breast:
17	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
18	chr16:33618975..33619481-chr6:120699536..120700074,2	MCF-7	breast:
19	chr6:120300752..120301282-chr6:120699843..120700377,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf170-5	chr6:120677989-120678113	FPKM1_group_28318_transcript_1
2	lnc-C6orf170-5	chr6:120665876-120666017	FPKM1_group_28318_transcript_1

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 1792 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1792 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559155893	chr6:120575450-120575451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572680943	chr6:120575459-120575460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535324889	chr6:120575466-120575467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529622466	chr6:120575476-120575477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555004149	chr6:120575491-120575492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182880025	chr6:120575543-120575544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543423451	chr6:120575558-120575559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563356519	chr6:120575599-120575600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576884179	chr6:120575647-120575648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545893702	chr6:120575718-120575719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145077640	chr6:120575743-120575744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532290892	chr6:120575774-120575775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77234088	chr6:120575790-120575791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1478823	chr6:120575796-120575797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1478822	chr6:120575928-120575929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149123340	chr6:120575936-120575937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549771412	chr6:120575950-120575951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569680433	chr6:120575978-120575979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532198392	chr6:120575985-120575986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187869897	chr6:120575987-120575988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566268499	chr6:120576007-120576008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534935037	chr6:120576008-120576009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192433590	chr6:120576025-120576026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533153223	chr6:120576027-120576028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568625303	chr6:120576078-120576079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537481406	chr6:120576079-120576080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551315983	chr6:120576081-120576082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1478821	chr6:120576110-120576111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1478820	chr6:120576157-120576158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183143669	chr6:120576202-120576203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553082281	chr6:120576247-120576248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187877323	chr6:120576289-120576290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9489917	chr6:120576389-120576390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371083297	chr6:120576432-120576433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1871282	chr6:120576457-120576458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529907206	chr6:120576491-120576492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564209801	chr6:120576519-120576520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143165946	chr6:120576542-120576543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532186018	chr6:120576598-120576599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552286518	chr6:120576604-120576605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1871281	chr6:120576661-120576662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528204809	chr6:120576692-120576693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548452215	chr6:120576701-120576702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568641148	chr6:120576732-120576733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537343942	chr6:120576752-120576753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557269109	chr6:120576764-120576765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570494561	chr6:120576790-120576791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539479059	chr6:120576801-120576802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552974031	chr6:120576811-120576812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146665770	chr6:120576812-120576813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120575400-120576000	Enhancers	Fetal Lung	lung
2	chr6:120576000-120579400	Weak transcription	Fetal Lung	lung
3	chr6:120579200-120579800	Enhancers	Fetal Brain Male	brain
4	chr6:120579400-120579600	Enhancers	Fetal Lung	lung
5	chr6:120579600-120580000	Weak transcription	Fetal Lung	lung
6	chr6:120580000-120580800	Enhancers	Fetal Lung	lung
7	chr6:120583400-120583600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:120594400-120596000	Enhancers	Fetal Lung	lung
9	chr6:120595200-120596400	Enhancers	Primary B cells from cord blood	blood
10	chr6:120595200-120596400	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:120596000-120599200	Weak transcription	Fetal Lung	lung
12	chr6:120598000-120598400	Enhancers	Fetal Brain Female	brain
13	chr6:120598200-120600400	Enhancers	Fetal Brain Male	brain
14	chr6:120598400-120600000	Weak transcription	Fetal Brain Female	brain
15	chr6:120599000-120599200	Enhancers	Fetal Heart	heart
16	chr6:120599200-120600000	Enhancers	Fetal Lung	lung
17	chr6:120599200-120600200	Weak transcription	Fetal Heart	heart
18	chr6:120599600-120600000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:120599800-120600200	Enhancers	Fetal Muscle Leg	muscle
20	chr6:120599800-120600400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:120600000-120600400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:120600000-120600800	Weak transcription	Fetal Lung	lung
23	chr6:120600000-120601400	Enhancers	Fetal Brain Female	brain
24	chr6:120600200-120600600	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:120600200-120601400	Enhancers	Fetal Heart	heart
26	chr6:120600400-120600800	Weak transcription	Fetal Brain Male	brain
27	chr6:120600600-120601200	Enhancers	Fetal Muscle Leg	muscle
28	chr6:120600800-120601200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:120600800-120601200	Enhancers	Fetal Lung	lung
30	chr6:120600800-120601400	Enhancers	Fetal Brain Male	brain
31	chr6:120617600-120619200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:120617800-120618800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:120618000-120618200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:120618000-120619000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:120618200-120618600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:120618200-120618600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:120618400-120619200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:120618400-120619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:120618600-120619000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:120620800-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:120628200-120628600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:120628200-120628600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:120651800-120652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:120651800-120652200	Enhancers	HepG2	liver
45	chr6:120664800-120666600	Enhancers	Fetal Heart	heart
46	chr6:120668000-120668200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
49	chr6:120670000-120670400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:120670000-120670400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links