Variant report

Variant	nsv604644
Chromosome Location	chr6:128394889-128486139
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:0)
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	chr6:128392524..128394413-chr6:128399750..128401437,2	MCF-7	breast:
2	chr6:128463000..128464938-chr6:128468556..128471326,2	MCF-7	breast:
3	chr6:128458668..128461582-chr6:128461796..128463394,2	MCF-7	breast:
4	chr6:128468628..128470982-chr6:128472532..128475032,2	MCF-7	breast:
5	chr6:128468254..128470858-chr6:128470875..128473858,2	MCF-7	breast:
6	chr6:128485115..128487072-chr6:128489971..128492431,2	K562	blood:
7	chr6:128460726..128463523-chr6:128465626..128467442,2	MCF-7	breast:
8	chr6:128475993..128477605-chr6:128555273..128557043,2	K562	blood:
9	chr6:128455236..128457276-chr6:128460742..128463040,2	K562	blood:
10	chr6:128484630..128487513-chr6:128490490..128493192,2	MCF-7	breast:
11	chr6:128468254..128470858-chr6:128470875..128473858,2	MCF-7	breast:
12	chr6:128444719..128446482-chr6:128455011..128457860,2	MCF-7	breast:
13	chr6:128427870..128430111-chr6:128432750..128435472,2	MCF-7	breast:
14	chr6:128427870..128430111-chr6:128432750..128435472,2	MCF-7	breast:
15	chr6:128383006..128384983-chr6:128395989..128398124,2	MCF-7	breast:
16	chr6:128405823..128408102-chr6:128411407..128413880,2	K562	blood:
17	chr6:128417947..128420463-chr6:128424215..128426639,2	K562	blood:
18	chr6:128458668..128461582-chr6:128461796..128463394,2	MCF-7	breast:
19	chr4:106551262..106552190-chr6:128410714..128411291,2	MCF-7	breast:
20	chr6:128405823..128408102-chr6:128411407..128413880,2	K562	blood:
21	chr6:128460726..128463523-chr6:128465626..128467442,2	MCF-7	breast:
22	chr6:128388276..128391146-chr6:128394136..128396594,2	MCF-7	breast:
23	chr6:128463000..128464938-chr6:128468556..128471326,2	MCF-7	breast:
24	chr6:128417947..128420463-chr6:128424215..128426639,2	K562	blood:
25	chr6:128445911..128447759-chr6:128447773..128449650,2	MCF-7	breast:
26	chr6:128444719..128446482-chr6:128455011..128457860,2	MCF-7	breast:
27	chr6:128468628..128470982-chr6:128472532..128475032,2	MCF-7	breast:
28	chr6:128401254..128402898-chr6:128838085..128840058,2	MCF-7	breast:
29	chr6:128445911..128447759-chr6:128447773..128449650,2	MCF-7	breast:
30	chr6:128412558..128415332-chr6:128836594..128839450,2	MCF-7	breast:
31	chr6:128466074..128468137-chr6:128509732..128512228,2	MCF-7	breast:
32	chr6:128455236..128457276-chr6:128460742..128463040,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152894	chromatin interactions

Extended variants
information (count: 3229 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:3229 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4544930	chr6:128394889-128394890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190676032	chr6:128395033-128395034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147058862	chr6:128395034-128395035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556360019	chr6:128395052-128395053	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574441057	chr6:128395079-128395080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183155840	chr6:128395081-128395082	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74933136	chr6:128395095-128395096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186394731	chr6:128395120-128395121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190953206	chr6:128395165-128395166	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564748288	chr6:128395176-128395177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114626434	chr6:128395221-128395222	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528482546	chr6:128395278-128395279	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543643364	chr6:128395279-128395280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562352591	chr6:128395307-128395308	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182110622	chr6:128395326-128395327	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547878096	chr6:128395365-128395366	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115513335	chr6:128395382-128395383	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187602418	chr6:128395440-128395441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192830796	chr6:128395449-128395450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529819027	chr6:128395472-128395473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538182143	chr6:128395490-128395491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113353542	chr6:128395532-128395533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73584635	chr6:128395560-128395561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568250274	chr6:128395607-128395608	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4496821	chr6:128395619-128395620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138164291	chr6:128395620-128395621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35173094	chr6:128395661-128395662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370065865	chr6:128395672-128395673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4479961	chr6:128395702-128395703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200431971	chr6:128395717-128395718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529571139	chr6:128395721-128395722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557826637	chr6:128395835-128395836	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183219920	chr6:128395867-128395868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544098290	chr6:128395882-128395883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78701023	chr6:128395902-128395903	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4496822	chr6:128395916-128395917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188578088	chr6:128395968-128395969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559396379	chr6:128396001-128396002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550881971	chr6:128396049-128396050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533286942	chr6:128396083-128396084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551354802	chr6:128396101-128396102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370943022	chr6:128396128-128396129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563750957	chr6:128396158-128396159	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4377806	chr6:128396332-128396333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12211129	chr6:128396381-128396382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12190558	chr6:128396386-128396387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201880768	chr6:128396422-128396423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535662108	chr6:128396428-128396429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149561006	chr6:128396467-128396468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565771070	chr6:128396485-128396486	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128347000-128405200	Weak transcription	Lung	lung
3	chr6:128350000-128401000	Weak transcription	Small Intestine	intestine
4	chr6:128367600-128398000	Weak transcription	HUVEC	blood vessel
5	chr6:128370000-128412600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:128372400-128412200	Weak transcription	Placenta	Placenta
7	chr6:128374600-128419400	Weak transcription	Esophagus	oesophagus
8	chr6:128375000-128419400	Weak transcription	Gastric	stomach
9	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
10	chr6:128375600-128413000	Weak transcription	Colonic Mucosa	Colon
11	chr6:128377800-128403400	Weak transcription	Fetal Kidney	kidney
12	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:128379400-128396600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:128379400-128412200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:128384000-128396000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:128385800-128406400	Weak transcription	Primary T cells from cord blood	blood
17	chr6:128385800-128419400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:128388600-128398200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:128388600-128398200	Weak transcription	HMEC	breast
20	chr6:128388600-128403000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:128388600-128412800	Weak transcription	Fetal Lung	lung
22	chr6:128388800-128397000	Weak transcription	HSMMtube	muscle
23	chr6:128388800-128407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:128388800-128411600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:128389000-128396200	Weak transcription	Fetal Thymus	thymus
26	chr6:128389000-128398000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:128389000-128398200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:128389000-128409800	Weak transcription	Thymus	Thymus
29	chr6:128389000-128411400	Weak transcription	Adipose Nuclei	Adipose
30	chr6:128389000-128412800	Weak transcription	NHLF	lung
31	chr6:128389000-128419400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:128389000-128419400	Weak transcription	Pancreas	Pancrea
33	chr6:128389200-128396400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:128389400-128399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:128389400-128399800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:128389600-128395800	Weak transcription	Fetal Intestine Large	intestine
37	chr6:128389600-128396400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:128389600-128396600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:128389600-128397400	Weak transcription	Liver	Liver
40	chr6:128389600-128397400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:128389600-128398000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:128389600-128398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:128389600-128403400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:128389600-128407600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:128389600-128409200	Weak transcription	Fetal Intestine Small	intestine
46	chr6:128389600-128409200	Weak transcription	Fetal Stomach	stomach
47	chr6:128389600-128409800	Weak transcription	Ovary	ovary
48	chr6:128389600-128410000	Weak transcription	NHEK	skin
49	chr6:128389600-128410600	Weak transcription	Left Ventricle	heart
50	chr6:128389600-128410800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links