Variant report

Variant	nsv522088
Chromosome Location	chr6:113788356-113809585
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:113799640..113802302-chr6:113802740..113805019,2	K562	blood:
2	chr6:113627469..113628408-chr6:113809119..113809984,4	MCF-7	breast:
3	chr6:113808573..113811425-chr6:114177780..114182240,6	MCF-7	breast:
4	chr6:113200688..113201682-chr6:113809330..113809842,2	MCF-7	breast:
5	chr6:113809466..113812026-chr6:113961863..113964476,2	MCF-7	breast:
6	chr6:113809247..113809874-chr6:114200355..114201347,2	MCF-7	breast:
7	chr6:113799640..113802302-chr6:113802740..113805019,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC2-13	chr6:113790426-113790565	NONHSAT114543
2	lnc-HDAC2-13	chr6:113795769-113795839	NONHSAT114543

No data

Variant related genes	Relation type
ENSG00000155130	chromatin interactions

Extended variants
information (count: 871 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2049923	chr6:113788356-113788357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187301020	chr6:113788358-113788359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572697085	chr6:113788359-113788360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148457839	chr6:113788382-113788383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79015337	chr6:113788411-113788412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573323662	chr6:113788424-113788425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544160975	chr6:113788425-113788426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562453260	chr6:113788437-113788438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577621292	chr6:113788441-113788442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544776121	chr6:113788451-113788452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75273230	chr6:113788475-113788476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554876132	chr6:113788488-113788489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576535967	chr6:113788494-113788495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373872994	chr6:113788500-113788501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113239077	chr6:113788583-113788584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116116809	chr6:113788590-113788591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371851494	chr6:113788597-113788598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543367371	chr6:113788602-113788603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142591424	chr6:113788607-113788608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190252336	chr6:113788623-113788624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182839146	chr6:113788632-113788633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187955379	chr6:113788634-113788635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571652091	chr6:113788644-113788645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74683317	chr6:113788663-113788664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547563191	chr6:113788698-113788699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60661119	chr6:113788717-113788718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533711207	chr6:113788720-113788721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55715533	chr6:113788732-113788733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567183439	chr6:113788760-113788761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537447010	chr6:113788813-113788814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372913817	chr6:113788821-113788822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556173225	chr6:113788883-113788884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192147700	chr6:113788884-113788885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116931607	chr6:113788901-113788902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374211911	chr6:113788930-113788931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553884898	chr6:113788991-113788992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572697937	chr6:113789027-113789028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572913185	chr6:113789137-113789138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544751496	chr6:113789170-113789171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561579239	chr6:113789190-113789191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531986801	chr6:113789208-113789209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185729188	chr6:113789239-113789240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544583657	chr6:113789251-113789252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561346141	chr6:113789274-113789275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57950622	chr6:113789283-113789284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547898645	chr6:113789289-113789290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565801272	chr6:113789333-113789334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564344500	chr6:113789376-113789377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527492403	chr6:113789443-113789444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559862013	chr6:113789522-113789523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113785200-113788800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:113785200-113788800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr6:113786400-113789000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:113786600-113791800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:113787000-113789600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:113787000-113791200	Weak transcription	Osteobl	bone
7	chr6:113787200-113791800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:113787400-113791600	Weak transcription	NHDF-Ad	bronchial
9	chr6:113787800-113788400	Enhancers	Primary B cells from cord blood	blood
10	chr6:113789000-113789200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:113791200-113791800	Enhancers	Osteobl	bone
12	chr6:113791600-113792200	Enhancers	NHDF-Ad	bronchial
13	chr6:113791800-113792000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:113791800-113792400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:113791800-113797000	Weak transcription	Osteobl	bone
16	chr6:113792000-113797600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:113792400-113797800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:113796400-113799200	Enhancers	Adipose Nuclei	Adipose
19	chr6:113796600-113797000	Enhancers	Lung	lung
20	chr6:113796600-113797200	Enhancers	Pancreas	Pancrea
21	chr6:113796600-113798200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:113796800-113797200	Enhancers	Esophagus	oesophagus
23	chr6:113796800-113797200	Enhancers	HepG2	liver
24	chr6:113796800-113798800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:113797000-113798800	Enhancers	Osteobl	bone
26	chr6:113797200-113798800	Weak transcription	Pancreas	Pancrea
27	chr6:113797400-113798400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:113797600-113798400	Enhancers	HMEC	breast
29	chr6:113797600-113799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:113797800-113798200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:113797800-113799000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:113797800-113799000	Enhancers	NHDF-Ad	bronchial
33	chr6:113798000-113799200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:113798200-113798600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:113798200-113798600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:113798200-113798600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:113798200-113799000	Enhancers	Psoas Muscle	Psoas
38	chr6:113798400-113799000	Enhancers	Colon Smooth Muscle	Colon
39	chr6:113798600-113799600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:113798600-113802400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:113798800-113799000	Enhancers	Pancreas	Pancrea
42	chr6:113798800-113799800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr6:113798800-113801000	Weak transcription	Osteobl	bone
44	chr6:113799000-113801600	Weak transcription	NHDF-Ad	bronchial
45	chr6:113799200-113800800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:113799200-113800800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:113799600-113800600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:113799800-113801000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr6:113800600-113802000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:113800800-113801200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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