Variant report

Variant	nsv933782
Chromosome Location	chr6:145946431-145956458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:145812363..145812895-chr6:145954847..145955707,2	MCF-7	breast:
2	chr6:145955670..145958489-chr6:145961873..145964489,3	K562	blood:
3	chr6:145535549..145536107-chr6:145954859..145955499,2	MCF-7	breast:
4	chr6:145942233..145945341-chr6:145949543..145951828,3	K562	blood:
5	chr6:144906150..144906666-chr6:145954755..145955428,2	MCF-7	breast:
6	chr6:145952364..145954779-chr6:146053194..146056408,3	K562	blood:
7	chr6:145817967..145818790-chr6:145955063..145955734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112425	chromatin interactions

Extended variants
information (count: 422 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535470886	chr6:145946436-145946437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184700249	chr6:145946490-145946491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80308784	chr6:145946495-145946496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545527701	chr6:145946502-145946503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77433042	chr6:145946508-145946509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377458443	chr6:145946558-145946559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117055625	chr6:145946582-145946583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558940804	chr6:145946583-145946584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138798803	chr6:145946612-145946613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544271724	chr6:145946645-145946646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559457614	chr6:145946676-145946677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs15372	chr6:145946677-145946678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574586584	chr6:145946686-145946687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201295186	chr6:145946742-145946743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149351552	chr6:145946764-145946765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372716503	chr6:145946789-145946790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563708107	chr6:145946792-145946793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144579702	chr6:145946805-145946806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148479369	chr6:145946816-145946817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188918098	chr6:145946834-145946835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368881204	chr6:145946865-145946866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575783301	chr6:145946909-145946910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73568389	chr6:145946913-145946914	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs578114931	chr6:145946950-145946951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540577431	chr6:145946952-145946953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563835932	chr6:145946958-145946959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141812357	chr6:145946962-145946963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528989693	chr6:145946984-145946985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370895865	chr6:145947037-145947038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550365380	chr6:145947043-145947044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1045820	chr6:145947080-145947081	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs147186801	chr6:145947085-145947086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529327367	chr6:145947115-145947116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559221380	chr6:145947162-145947163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575160327	chr6:145947167-145947168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570797209	chr6:145947198-145947199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534931478	chr6:145947270-145947271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553139522	chr6:145947311-145947312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574650001	chr6:145947351-145947352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549362740	chr6:145947361-145947362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117854418	chr6:145947392-145947393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557145515	chr6:145947408-145947409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575609730	chr6:145947417-145947418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140540200	chr6:145947444-145947445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564401326	chr6:145947445-145947446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs41285847	chr6:145947548-145947549	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540474350	chr6:145947551-145947552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61095394	chr6:145947592-145947593	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs60283049	chr6:145947624-145947625	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370728607	chr6:145947626-145947627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	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
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145924400-145948200	Weak transcription	Left Ventricle	heart
2	chr6:145934200-145948000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:145937600-145952000	Weak transcription	Psoas Muscle	Psoas
4	chr6:145939800-145948400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:145941600-145954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:145942400-145955400	Weak transcription	Esophagus	oesophagus
7	chr6:145943200-145947800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:145943200-145948200	Weak transcription	Fetal Stomach	stomach
9	chr6:145943200-145948200	Weak transcription	Pancreas	Pancrea
10	chr6:145943600-145947600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:145943600-145948400	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:145943800-145948200	Weak transcription	Right Ventricle	heart
13	chr6:145944200-145949800	Weak transcription	GM12878-XiMat	blood
14	chr6:145944400-145948000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:145945000-145948200	Weak transcription	Aorta	Aorta
16	chr6:145945200-145946800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:145945200-145950200	Weak transcription	Primary B cells from cord blood	blood
18	chr6:145945200-145955400	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:145945400-145948200	Weak transcription	Thymus	Thymus
20	chr6:145945400-145949000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:145945600-145947800	Weak transcription	Brain Anterior Caudate	brain
22	chr6:145945600-145948000	Weak transcription	Brain Substantia Nigra	brain
23	chr6:145945600-145948000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:145945800-145947400	Weak transcription	Primary T cells from cord blood	blood
25	chr6:145945800-145955000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:145946000-145946600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:145946000-145948200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:145946000-145948200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:145946000-145949600	Weak transcription	Liver	Liver
30	chr6:145946000-145951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:145946200-145947800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:145946200-145948000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:145946200-145948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:145946200-145955000	Weak transcription	Stomach Mucosa	stomach
35	chr6:145946400-145948000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:145946400-145948000	Weak transcription	Ovary	ovary
37	chr6:145946400-145948200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:145946400-145948200	Weak transcription	Fetal Intestine Small	intestine
39	chr6:145946400-145950400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:145946400-145950400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:145946400-145955600	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:145946600-145948000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:145946600-145948200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:145946600-145949800	Weak transcription	Spleen	Spleen
45	chr6:145946800-145948200	Weak transcription	Fetal Thymus	thymus
46	chr6:145946800-145948800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:145946800-145950600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:145946800-145950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:145946800-145950800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:145946800-145952400	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links