Variant report

Variant	nsv349125
Chromosome Location	chr6:161364230-161373035
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161347613..161349495-chr6:161362654..161364258,2	K562	blood:
2	chr6:161358647..161361913-chr6:161364919..161367564,3	K562	blood:
3	chr6:161362872..161367165-chr6:161367890..161370793,5	K562	blood:
4	chr6:161368326..161370219-chr6:161376668..161378972,2	MCF-7	breast:
5	chr6:161369702..161372936-chr6:161374234..161376186,3	K562	blood:
6	chr6:161366897..161368711-chr6:161371406..161373943,2	MCF-7	breast:
7	chr6:161355190..161357461-chr6:161362771..161365212,2	K562	blood:
8	chr6:161369420..161372191-chr6:161411916..161414445,2	MCF-7	breast:
9	chr6:161360024..161362561-chr6:161364378..161365913,2	MCF-7	breast:
10	chr6:161362872..161367165-chr6:161367890..161370793,5	K562	blood:
11	chr6:161366897..161368711-chr6:161371406..161373943,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547586876	chr6:161364260-161364261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529194277	chr6:161364276-161364277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538480413	chr6:161364297-161364298	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79316094	chr6:161364466-161364467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9458062	chr6:161364480-161364481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373388474	chr6:161364490-161364491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527889903	chr6:161364502-161364503	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537724487	chr6:161364549-161364550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186511113	chr6:161364550-161364551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574083910	chr6:161364578-161364579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377202098	chr6:161364625-161364626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533740094	chr6:161364633-161364634	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553586347	chr6:161364652-161364653	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576841820	chr6:161364665-161364666	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190906053	chr6:161364716-161364717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563055320	chr6:161364740-161364741	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73021761	chr6:161364741-161364742	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140736876	chr6:161364754-161364755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs585649	chr6:161364784-161364785	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377276205	chr6:161364785-161364786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34412979	chr6:161364787-161364788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12110471	chr6:161364790-161364791	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538524855	chr6:161364815-161364816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146870646	chr6:161364847-161364848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564441114	chr6:161364849-161364850	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34264501	chr6:161364872-161364873	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533451538	chr6:161364938-161364939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12111329	chr6:161364953-161364954	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10945705	chr6:161364970-161364971	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1247349	chr6:161364992-161364993	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182339014	chr6:161365046-161365047	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567966352	chr6:161365095-161365096	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533573290	chr6:161365129-161365130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565920373	chr6:161365132-161365133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553692556	chr6:161365136-161365137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114444106	chr6:161365243-161365244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539496217	chr6:161365265-161365266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553933885	chr6:161365268-161365269	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534519627	chr6:161365271-161365272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138933927	chr6:161365272-161365273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576723075	chr6:161365316-161365317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542397342	chr6:161365338-161365339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556118647	chr6:161365368-161365369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572666418	chr6:161365376-161365377	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186259268	chr6:161365398-161365399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148997519	chr6:161365418-161365419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1247348	chr6:161365436-161365437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs115740255	chr6:161365475-161365476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190735352	chr6:161365482-161365483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74609090	chr6:161365537-161365538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161359800-161365400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:161361600-161372200	Weak transcription	Esophagus	oesophagus
3	chr6:161365200-161372200	Weak transcription	Pancreas	Pancrea
4	chr6:161365400-161374200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:161366600-161367000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:161366600-161367000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:161368200-161368400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:161368400-161370200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:161368600-161369800	Enhancers	Placenta	Placenta
10	chr6:161369400-161373400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:161369800-161372200	Weak transcription	Placenta	Placenta
12	chr6:161370200-161370800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:161370200-161371200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:161370200-161371600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:161370200-161371800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:161370200-161371800	Enhancers	HMEC	breast
17	chr6:161370200-161372800	Enhancers	NHEK	skin
18	chr6:161370200-161373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:161370200-161373800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:161370600-161371400	Enhancers	HSMM	muscle
21	chr6:161370600-161371800	Enhancers	HSMMtube	muscle
22	chr6:161370600-161372600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:161370800-161371200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:161370800-161371800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:161370800-161371800	Enhancers	Colon Smooth Muscle	Colon
26	chr6:161370800-161371800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr6:161370800-161371800	Enhancers	Fetal Lung	lung
28	chr6:161370800-161371800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:161370800-161371800	Enhancers	Osteobl	bone
30	chr6:161370800-161372200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:161370800-161372200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:161371000-161371600	Enhancers	NH-A	brain
33	chr6:161371000-161371800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:161371000-161371800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:161371000-161371800	Enhancers	Fetal Heart	heart
36	chr6:161371000-161371800	Enhancers	Rectal Smooth Muscle	rectum
37	chr6:161371000-161372200	Enhancers	Stomach Mucosa	stomach
38	chr6:161371200-161371600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:161371200-161371800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:161371400-161371600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:161371600-161372200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:161371800-161372400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:161371800-161372400	Weak transcription	Right Atrium	heart
44	chr6:161371800-161372800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:161371800-161373600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:161371800-161374000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:161371800-161374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:161372000-161372600	Enhancers	K562	blood
49	chr6:161372200-161372600	Enhancers	Esophagus	oesophagus
50	chr6:161372200-161372600	Enhancers	Placenta	Placenta

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