Variant report

Variant	nsv1024526
Chromosome Location	chr6:101192726-101241291
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:0)
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	chr6:101227439..101228979-chr6:101229862..101232635,2	MCF-7	breast:
2	chr6:101209793..101211666-chr6:101212559..101214654,2	MCF-7	breast:
3	chr6:101235770..101239248-chr6:101239414..101244156,4	K562	blood:
4	chr6:101239952..101241770-chr6:101249281..101252213,2	K562	blood:
5	chr6:101221571..101223322-chr6:101224245..101227065,4	K562	blood:
6	chr6:101169269..101170858-chr6:101198475..101201217,2	MCF-7	breast:
7	chr6:101209490..101212282-chr6:101220701..101222580,2	MCF-7	breast:
8	chr6:101166704..101169523-chr6:101191232..101192828,2	K562	blood:
9	chr6:101223376..101224309-chr6:101674457..101675224,3	MCF-7	breast:
10	chr6:101209793..101211666-chr6:101212559..101214654,2	MCF-7	breast:
11	chr6:101232498..101235152-chr6:101238676..101241489,3	K562	blood:
12	chr6:101209490..101212282-chr6:101220701..101222580,2	MCF-7	breast:
13	chr6:101235770..101239248-chr6:101239414..101244156,4	K562	blood:
14	chr6:101227439..101228979-chr6:101229862..101232635,2	MCF-7	breast:
15	chr6:101232498..101235152-chr6:101238676..101241489,3	K562	blood:
16	chr6:101221571..101223322-chr6:101224245..101227065,4	K562	blood:
17	chr6:101223675..101224334-chr6:101674492..101675446,2	MCF-7	breast:
18	chr6:101191819..101193985-chr6:101196760..101198268,2	K562	blood:
19	chr6:101191819..101193985-chr6:101196760..101198268,2	K562	blood:

No data

Extended variants
information (count: 1703 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1703 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4840152	chr6:101192726-101192727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535743709	chr6:101192728-101192729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371737093	chr6:101192748-101192749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78678678	chr6:101192752-101192753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141122659	chr6:101192753-101192754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72942988	chr6:101192776-101192777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74716313	chr6:101192787-101192788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528828674	chr6:101192833-101192834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576546060	chr6:101192847-101192848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543845694	chr6:101192851-101192852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562015017	chr6:101192933-101192934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530025469	chr6:101192970-101192971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541725862	chr6:101192979-101192980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185062291	chr6:101192997-101192998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117675152	chr6:101193073-101193074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551902506	chr6:101193074-101193075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538509951	chr6:101193117-101193118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187497271	chr6:101193118-101193119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549371502	chr6:101193126-101193127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567926979	chr6:101193156-101193157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536179406	chr6:101193175-101193176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554144885	chr6:101193186-101193187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566307848	chr6:101193189-101193190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7742011	chr6:101193247-101193248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537047332	chr6:101193276-101193277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139071862	chr6:101193299-101193300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535061968	chr6:101193363-101193364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540104242	chr6:101193364-101193365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539886906	chr6:101193379-101193380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200968897	chr6:101193381-101193382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77271857	chr6:101193382-101193383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398048698	chr6:101193391-101193392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201061127	chr6:101193393-101193394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576612527	chr6:101193470-101193471	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543906822	chr6:101193478-101193479	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368200943	chr6:101193483-101193484	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138055748	chr6:101193560-101193561	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141520482	chr6:101193584-101193585	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373785874	chr6:101193590-101193591	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567372729	chr6:101193599-101193600	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558445892	chr6:101193623-101193624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs118065054	chr6:101193676-101193677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192339891	chr6:101193711-101193712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183984856	chr6:101193793-101193794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574868551	chr6:101193805-101193806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189614428	chr6:101193815-101193816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531318456	chr6:101193822-101193823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549448499	chr6:101193828-101193829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147067375	chr6:101193840-101193841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537490945	chr6:101193841-101193842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101166200-101211000	Weak transcription	NH-A	brain
2	chr6:101168600-101211200	Weak transcription	Osteobl	bone
3	chr6:101169000-101211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:101170800-101199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:101172200-101198600	Weak transcription	Small Intestine	intestine
6	chr6:101172800-101210800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:101173000-101209000	Weak transcription	K562	blood
8	chr6:101173000-101211000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:101175800-101211200	Weak transcription	Psoas Muscle	Psoas
10	chr6:101177000-101211600	Weak transcription	NHDF-Ad	bronchial
11	chr6:101182200-101214400	Weak transcription	A549	lung
12	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
13	chr6:101185400-101212600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:101186600-101208400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:101186800-101199400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:101188400-101211400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:101189200-101209200	Weak transcription	Right Ventricle	heart
18	chr6:101190200-101199600	Weak transcription	Fetal Brain Male	brain
19	chr6:101190200-101211200	Weak transcription	Fetal Lung	lung
20	chr6:101190200-101211600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:101190400-101205000	Weak transcription	Left Ventricle	heart
22	chr6:101190600-101206400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:101190600-101212600	Weak transcription	HSMMtube	muscle
24	chr6:101190800-101211000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:101190800-101216200	Weak transcription	Stomach Mucosa	stomach
26	chr6:101190800-101217400	Weak transcription	NHLF	lung
27	chr6:101191000-101193200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:101191000-101193600	Weak transcription	Liver	Liver
29	chr6:101191000-101194600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:101191000-101196400	Weak transcription	HSMM	muscle
31	chr6:101191000-101208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:101191000-101209000	Weak transcription	Lung	lung
33	chr6:101191000-101211200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:101191000-101211400	Weak transcription	Fetal Thymus	thymus
35	chr6:101191200-101192800	Weak transcription	Pancreas	Pancrea
36	chr6:101191200-101202400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:101191200-101206400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:101191200-101207200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:101191200-101207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:101191200-101207800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr6:101191200-101208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:101191200-101209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:101191200-101209200	Weak transcription	Fetal Stomach	stomach
44	chr6:101191200-101209800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:101191200-101211200	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:101191200-101211400	Weak transcription	Adipose Nuclei	Adipose
47	chr6:101191200-101211600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:101191200-101211600	Weak transcription	HepG2	liver
49	chr6:101191200-101211800	Weak transcription	Placenta	Placenta
50	chr6:101191400-101193200	Weak transcription	H9 Cell Line	embryonic stem cell

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