Variant report

Variant	nsv1023185
Chromosome Location	chr6:110386197-110416868
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:1)
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	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
2	chr6:110414174..110416824-chr6:110419840..110421905,2	K562	blood:
3	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
4	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:
5	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
6	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:
7	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC40-3	chr6:110415384-110416284	NONHSAT114414

No data

Extended variants
information (count: 1008 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554189159	chr6:110386233-110386234	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs577304588	chr6:110386246-110386247	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs76498648	chr6:110386255-110386256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs558084383	chr6:110386258-110386259	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs6912291	chr6:110386342-110386343	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576141559	chr6:110386401-110386402	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs541732508	chr6:110386438-110386439	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs186244612	chr6:110386458-110386459	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs79220068	chr6:110386460-110386461	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs150631226	chr6:110386504-110386505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540653741	chr6:110386525-110386526	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs139794647	chr6:110386540-110386541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs144797201	chr6:110386544-110386545	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs190698992	chr6:110386626-110386627	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs182601068	chr6:110386635-110386636	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs531889791	chr6:110386636-110386637	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs548912920	chr6:110386646-110386647	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs73533819	chr6:110386647-110386648	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534484244	chr6:110386652-110386653	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs73533822	chr6:110386744-110386745	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187732849	chr6:110386750-110386751	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs147505227	chr6:110386751-110386752	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs72934058	chr6:110386788-110386789	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576173373	chr6:110386810-110386811	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs542177237	chr6:110386888-110386889	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs192745333	chr6:110386889-110386890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs147431532	chr6:110386892-110386893	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs539561784	chr6:110386894-110386895	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs3951815	chr6:110386961-110386962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs555120656	chr6:110386997-110386998	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs376139165	chr6:110387163-110387164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs540916080	chr6:110387239-110387240	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs183219228	chr6:110387256-110387257	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs187661795	chr6:110387335-110387336	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs543161611	chr6:110387389-110387390	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs374298965	chr6:110387390-110387391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs563359467	chr6:110387396-110387397	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs556223935	chr6:110387520-110387521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192153191	chr6:110387529-110387530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548837800	chr6:110387565-110387566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111686691	chr6:110387592-110387593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145407688	chr6:110387741-110387742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548064998	chr6:110387742-110387743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576057029	chr6:110387761-110387762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9374151	chr6:110387765-110387766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533325678	chr6:110387803-110387804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148391554	chr6:110387855-110387856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114461742	chr6:110387884-110387885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535539024	chr6:110387895-110387896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555181983	chr6:110387897-110387898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
small cell lung cancer	20016488	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
abnormal development	18461090	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
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110383200-110391000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:110383800-110386200	Enhancers	Fetal Thymus	thymus
3	chr6:110384000-110386800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:110384000-110387600	Enhancers	Thymus	Thymus
5	chr6:110384400-110387200	Enhancers	Primary B cells from cord blood	blood
6	chr6:110384400-110387200	Enhancers	GM12878-XiMat	blood
7	chr6:110384600-110387600	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:110385200-110389000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:110385200-110389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:110385200-110391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:110385400-110388600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:110385800-110386200	Bivalent Enhancer	Dnd41	blood
13	chr6:110386200-110386400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:110386200-110386400	Enhancers	Colonic Mucosa	Colon
15	chr6:110386200-110387400	Bivalent Enhancer	Fetal Thymus	thymus
16	chr6:110386400-110386800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:110386600-110386800	Enhancers	NHEK	skin
18	chr6:110386600-110387200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:110387000-110387200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:110387200-110387400	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:110387400-110387600	Enhancers	Fetal Thymus	thymus
22	chr6:110387400-110388800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:110387400-110389400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:110387800-110391600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:110388200-110388400	Enhancers	Lung	lung
26	chr6:110388200-110388600	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:110388400-110388600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:110388400-110388600	Enhancers	Brain Anterior Caudate	brain
29	chr6:110388400-110389000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:110388400-110389400	Enhancers	Fetal Brain Male	brain
31	chr6:110388400-110389600	Enhancers	Brain Substantia Nigra	brain
32	chr6:110388400-110391400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:110388600-110389600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:110388600-110389600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:110388600-110389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:110388600-110390200	Enhancers	Fetal Heart	heart
37	chr6:110388800-110389800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:110389000-110389200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:110389000-110389200	Enhancers	Right Atrium	heart
40	chr6:110389000-110389400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:110389000-110389400	Enhancers	Stomach Smooth Muscle	stomach
42	chr6:110389000-110389600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:110389000-110390000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:110389200-110389600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:110389200-110389600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:110389200-110391400	Enhancers	Brain Hippocampus Middle	brain
47	chr6:110389400-110390000	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:110389400-110390200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:110389600-110390600	Weak transcription	Brain Substantia Nigra	brain
50	chr6:110389600-110390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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