Variant report

Variant	nsv515487
Chromosome Location	chr6:101831312-101840009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101839704..101841744-chr6:101842658..101845506,3	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115188112	chr6:101831528-101831529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189653966	chr6:101831534-101831535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377743496	chr6:101837640-101837641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190092449	chr6:101837647-101837648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530608250	chr6:101837650-101837651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1933356	chr6:101837672-101837673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555272347	chr6:101837673-101837674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527691	chr6:101837681-101837682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527662	chr6:101837690-101837691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527361083	chr6:101837693-101837694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527618	chr6:101837703-101837704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113925128	chr6:101837723-101837724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs651281	chr6:101837725-101837726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs651273	chr6:101837731-101837732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78946329	chr6:101837735-101837736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560491570	chr6:101837751-101837752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551157568	chr6:101837809-101837810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546200921	chr6:101837810-101837811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150695310	chr6:101837812-101837813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377461155	chr6:101837837-101837838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182822628	chr6:101837878-101837879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs504843	chr6:101837880-101837881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1352040	chr6:101837921-101837922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1352039	chr6:101837957-101837958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78461703	chr6:101837977-101837978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116350016	chr6:101837990-101837991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565353950	chr6:101838002-101838003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532800087	chr6:101838027-101838028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550941022	chr6:101838036-101838037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187865392	chr6:101838063-101838064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138972374	chr6:101838066-101838067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1843488	chr6:101838111-101838112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555548610	chr6:101838119-101838120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115245203	chr6:101838136-101838137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534930768	chr6:101838142-101838143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553336602	chr6:101838145-101838146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573717631	chr6:101838156-101838157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577980555	chr6:101838161-101838162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1843487	chr6:101838272-101838273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192445058	chr6:101838290-101838291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553306064	chr6:101838310-101838311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543504517	chr6:101838356-101838357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562327797	chr6:101838385-101838386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185626787	chr6:101838388-101838389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370866925	chr6:101838441-101838442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149430268	chr6:101838478-101838479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188640939	chr6:101838519-101838520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533443119	chr6:101838555-101838556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs498477	chr6:101838565-101838566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192595129	chr6:101838601-101838602	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101831400-101831600	Enhancers	Lung	lung
2	chr6:101837600-101839400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:101838200-101838600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:101838600-101838800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
5	chr6:101838600-101839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:101839000-101839600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:101839200-101839600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr6:101839200-101839600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr6:101839200-101839600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:101839200-101839800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:101839400-101839600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
12	chr6:101839400-101839600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr6:101839400-101839600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr6:101839400-101839600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr6:101839400-101839600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr6:101839400-101839600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr6:101839400-101839600	Enhancers	Brain Substantia Nigra	brain
18	chr6:101839400-101839800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr6:101839400-101840200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:101839400-101840200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:101839400-101840200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:101839400-101840200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:101839400-101840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:101839600-101839800	Enhancers	Gastric	stomach
25	chr6:101839600-101839800	Bivalent Enhancer	Left Ventricle	heart
26	chr6:101839600-101840000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:101839600-101840000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:101839600-101840000	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr6:101839600-101840000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:101839600-101840000	Bivalent Enhancer	Brain Substantia Nigra	brain
31	chr6:101839600-101840200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
32	chr6:101839600-101840400	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr6:101839600-101840800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:101839600-101840800	Bivalent Enhancer	Fetal Stomach	stomach
35	chr6:101839600-101841000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:101839600-101842200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:101839600-101842200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr6:101839600-101842200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:101839600-101842400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr6:101839600-101842400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr6:101839800-101840000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:101839800-101840000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:101839800-101840200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr6:101839800-101840200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:101839800-101840600	Bivalent Enhancer	Fetal Brain Male	brain
46	chr6:101839800-101841000	Bivalent Enhancer	Placenta	Placenta
47	chr6:101839800-101841000	Weak transcription	Gastric	stomach
48	chr6:101839800-101842200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:101840000-101840200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:101840000-101840200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--

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