Variant report

Variant	nsv1034080
Chromosome Location	chr6:149456387-149480990
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149465135..149466715-chr6:149474262..149476681,2	K562	blood:
2	chr6:149479282..149481897-chr6:149482790..149485129,2	K562	blood:
3	chr6:149460552..149463387-chr6:149463525..149465749,3	K562	blood:
4	chr6:149460552..149463387-chr6:149463525..149465749,3	K562	blood:
5	chr6:149468238..149470911-chr6:149471382..149475274,5	K562	blood:
6	chr6:149463112..149464971-chr6:149638283..149640463,2	MCF-7	breast:
7	chr6:149449471..149451391-chr6:149458352..149459927,2	K562	blood:
8	chr6:149468297..149470497-chr6:149472232..149475176,2	K562	blood:
9	chr6:149468238..149470911-chr6:149471382..149475274,5	K562	blood:
10	chr6:149352637..149354197-chr6:149460011..149462868,2	MCF-7	breast:
11	chr6:149465135..149466715-chr6:149474262..149476681,2	K562	blood:
12	chr6:149452280..149455428-chr6:149458542..149462690,3	MCF-7	breast:
13	chr6:149460179..149461877-chr6:149466077..149468125,2	K562	blood:
14	chr6:149459494..149462226-chr6:149474198..149476247,2	K562	blood:
15	chr6:149404549..149406974-chr6:149465570..149467513,2	MCF-7	breast:
16	chr6:149468297..149470497-chr6:149472232..149475176,2	K562	blood:
17	chr6:149460179..149461877-chr6:149466077..149468125,2	K562	blood:
18	chr6:149459494..149462226-chr6:149474198..149476247,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000055208	chromatin interactions
ENSG00000236591	chromatin interactions

Extended variants
information (count: 967 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368373988	chr6:149456396-149456397	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540422170	chr6:149456401-149456402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560437921	chr6:149456414-149456415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551710420	chr6:149456416-149456417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370746501	chr6:149456418-149456419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529182375	chr6:149456460-149456461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549334279	chr6:149456498-149456499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183428391	chr6:149456501-149456502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530958197	chr6:149456509-149456510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78728219	chr6:149456527-149456528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111471258	chr6:149456560-149456561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558602759	chr6:149456627-149456628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188783743	chr6:149456662-149456663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546786555	chr6:149456688-149456689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11155625	chr6:149456755-149456756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369527749	chr6:149456810-149456811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34019615	chr6:149456832-149456833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535731712	chr6:149456842-149456843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75933386	chr6:149456916-149456917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193074042	chr6:149456939-149456940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374678656	chr6:149456942-149456943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183927199	chr6:149457004-149457005	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs34878323	chr6:149457005-149457006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537848039	chr6:149457019-149457020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35945009	chr6:149457027-149457028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78103500	chr6:149457080-149457081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577666268	chr6:149457106-149457107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs149176963	chr6:149457116-149457117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs560376137	chr6:149457127-149457128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558713231	chr6:149457136-149457137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187844954	chr6:149457141-149457142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs367612282	chr6:149457157-149457158	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144877981	chr6:149457179-149457180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs80200876	chr6:149457180-149457181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs68027975	chr6:149457181-149457182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542916840	chr6:149457206-149457207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191103157	chr6:149457247-149457248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183652560	chr6:149457272-149457273	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73779021	chr6:149457273-149457274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564370835	chr6:149457287-149457288	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536076954	chr6:149457310-149457311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370710057	chr6:149457319-149457320	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546721652	chr6:149457396-149457397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566687374	chr6:149457425-149457426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535672572	chr6:149457429-149457430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143283616	chr6:149457445-149457446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575158425	chr6:149457462-149457463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188506617	chr6:149457469-149457470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56061067	chr6:149457508-149457509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557715830	chr6:149457539-149457540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Gastric cancer	17908304	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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149450000-149457000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:149450000-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:149450200-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:149452000-149458000	Weak transcription	Pancreas	Pancrea
5	chr6:149454000-149457200	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:149454000-149459200	Weak transcription	Esophagus	oesophagus
7	chr6:149454200-149456600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:149454200-149456600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:149454200-149458800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:149454200-149459200	Weak transcription	Dnd41	blood
11	chr6:149454200-149459400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:149454400-149456600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:149454800-149456800	Enhancers	Fetal Lung	lung
14	chr6:149455000-149456400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:149455000-149456600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:149455000-149456600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:149455200-149456600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:149455400-149456600	Enhancers	Brain Hippocampus Middle	brain
19	chr6:149455400-149457400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:149455800-149456400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:149455800-149456400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr6:149455800-149456600	Enhancers	Fetal Kidney	kidney
23	chr6:149455800-149459000	Weak transcription	K562	blood
24	chr6:149456000-149456600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:149456000-149456600	Enhancers	Fetal Muscle Leg	muscle
26	chr6:149456000-149457600	Enhancers	GM12878-XiMat	blood
27	chr6:149456200-149456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:149456200-149457000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:149456200-149458800	Weak transcription	Adipose Nuclei	Adipose
30	chr6:149456400-149457000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:149456400-149457800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:149456400-149459000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:149456600-149457200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:149456600-149457400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:149456600-149457400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:149456600-149459400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:149456800-149461200	Weak transcription	Fetal Lung	lung
38	chr6:149457000-149457400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:149457000-149458800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:149457000-149459000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:149457200-149458000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:149457200-149459000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:149457400-149457800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr6:149457400-149457800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:149457400-149458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:149457400-149458600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:149457400-149459000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:149457800-149458000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:149457800-149459200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:149458000-149458400	Enhancers	Pancreas	Pancrea

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