Variant report

Variant	nsv1067924
Chromosome Location	chr6:132206904-132212518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132208396..132211253-chr6:132211856..132215188,4	MCF-7	breast:
2	6:132204869-132216114..6:132269655-132282174	K562	blood:
3	6:132176847-132180372..6:132204869-132216114	K562	blood:
4	chr6:132208396..132211253-chr6:132211856..132215188,4	MCF-7	breast:
5	6:132204869-132216114..6:132646256-132647474	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000118523	chromatin interactions
ENSG00000079931	chromatin interactions
ENSG00000227220	chromatin interactions

Extended variants
information (count: 284 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138400621	chr6:132206916-132206917	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs575860023	chr6:132206961-132206962	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs545378587	chr6:132206995-132206996	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs536866392	chr6:132207010-132207011	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs190264618	chr6:132207023-132207024	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs182150871	chr6:132207024-132207025	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs541072295	chr6:132207025-132207026	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs59349321	chr6:132207135-132207136	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370976176	chr6:132207143-132207144	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs577551787	chr6:132207156-132207157	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs78051971	chr6:132207239-132207240	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs564793680	chr6:132207341-132207342	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs112385276	chr6:132207342-132207343	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370752546	chr6:132207359-132207360	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs34191991	chr6:132207457-132207458	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562218086	chr6:132207478-132207479	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142983400	chr6:132207481-132207482	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547859762	chr6:132207492-132207493	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs565972926	chr6:132207570-132207571	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs116371737	chr6:132207622-132207623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147824476	chr6:132207657-132207658	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs566594907	chr6:132207679-132207680	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs369942606	chr6:132207697-132207698	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs141020601	chr6:132207718-132207719	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs367759638	chr6:132207719-132207720	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368946895	chr6:132207723-132207724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373077640	chr6:132207778-132207779	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs202179867	chr6:132207788-132207789	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs569627580	chr6:132207789-132207790	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs536903196	chr6:132207794-132207795	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs145159778	chr6:132207821-132207822	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs377375853	chr6:132207852-132207853	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs573774284	chr6:132207864-132207865	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs78518631	chr6:132207915-132207916	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112507180	chr6:132207963-132207964	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs10692757	chr6:132207964-132207965	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs35317566	chr6:132207965-132207966	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs527831544	chr6:132207971-132207972	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs113362297	chr6:132207983-132207984	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs371901756	chr6:132208035-132208036	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs193226925	chr6:132208042-132208043	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs202192160	chr6:132208060-132208061	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs10692758	chr6:132208061-132208062	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs71030765	chr6:132208063-132208064	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs377594631	chr6:132208065-132208066	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374635001	chr6:132208066-132208067	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs375837003	chr6:132208067-132208068	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201265492	chr6:132208069-132208070	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs77601007	chr6:132208070-132208071	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs73778352	chr6:132208071-132208072	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Colorectal cancer	16272173	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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132162200-132211000	Weak transcription	Fetal Kidney	kidney
2	chr6:132163000-132213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:132170800-132211200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:132171200-132209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:132180600-132213200	Strong transcription	Liver	Liver
6	chr6:132182000-132214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:132184400-132209400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:132184800-132213200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:132185200-132217200	Weak transcription	Psoas Muscle	Psoas
10	chr6:132185800-132212600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:132186200-132213800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:132186600-132212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:132190000-132210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:132190000-132211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:132190000-132213200	Strong transcription	HepG2	liver
16	chr6:132190200-132214000	Weak transcription	NHDF-Ad	bronchial
17	chr6:132190600-132216200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:132192200-132213800	Weak transcription	Pancreas	Pancrea
19	chr6:132195200-132212800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:132196800-132211000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:132197400-132207600	Weak transcription	NH-A	brain
22	chr6:132199400-132209200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:132200000-132209400	Weak transcription	HSMM	muscle
24	chr6:132200600-132207600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:132201200-132207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:132201400-132209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:132201400-132209600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:132202200-132209000	Weak transcription	Fetal Intestine Small	intestine
29	chr6:132202200-132209200	Weak transcription	NHLF	lung
30	chr6:132202200-132209400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:132202200-132209600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:132202200-132211200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:132202200-132211200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:132202200-132213400	Weak transcription	Fetal Intestine Large	intestine
35	chr6:132202200-132213400	Weak transcription	Left Ventricle	heart
36	chr6:132202200-132215600	Weak transcription	Aorta	Aorta
37	chr6:132202200-132215600	Weak transcription	Ovary	ovary
38	chr6:132202800-132209200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:132202800-132209600	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:132202800-132211800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:132202800-132213400	Weak transcription	Fetal Stomach	stomach
42	chr6:132204200-132214600	Strong transcription	Osteobl	bone
43	chr6:132204400-132213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:132204400-132213800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:132205000-132207800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:132205400-132207000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:132205400-132207000	Strong transcription	Placenta	Placenta
48	chr6:132205400-132213400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:132205600-132215600	Weak transcription	Small Intestine	intestine
50	chr6:132205800-132214400	Strong transcription	Placenta Amnion	Placenta Amnion

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