Variant report

Variant	nsv1017659
Chromosome Location	chr6:69489481-69520127
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69504737..69507023-chr6:69507308..69508878,2	K562	blood:
2	chr6:69449624..69452933-chr6:69485444..69489658,4	K562	blood:
3	chr6:69505056..69507180-chr6:69508619..69510511,3	K562	blood:
4	chr6:69516061..69518089-chr6:70040944..70043117,2	K562	blood:
5	chr6:69513585..69517599-chr6:69517600..69520512,4	K562	blood:
6	chr6:69504737..69507023-chr6:69507308..69508878,2	K562	blood:
7	chr6:69513585..69517599-chr6:69517600..69520512,4	K562	blood:
8	chr6:69488300..69490179-chr6:69492286..69495172,2	K562	blood:
9	chr6:69505056..69507180-chr6:69508619..69510511,3	K562	blood:
10	chr6:69488300..69490179-chr6:69492286..69495172,2	K562	blood:
11	chr17:56061214..56063201-chr6:69518793..69520402,2	MCF-7	breast:
12	chr6:69517737..69519410-chr6:69526030..69528424,2	K562	blood:
13	chr6:69281088..69283265-chr6:69488145..69489862,2	K562	blood:
14	chr6:69481523..69484520-chr6:69489886..69492873,2	K562	blood:
15	chr6:69484056..69486437-chr6:69489948..69492199,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135298	chromatin interactions
ENSG00000136451	chromatin interactions

Extended variants
information (count: 1169 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1169 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372330382	chr6:69489484-69489485	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186323197	chr6:69489487-69489488	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553080924	chr6:69489488-69489489	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139119877	chr6:69489541-69489542	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143159709	chr6:69489564-69489565	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113722246	chr6:69489577-69489578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs36092613	chr6:69489580-69489581	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562325573	chr6:69489631-69489632	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575396498	chr6:69489687-69489688	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543908772	chr6:69489744-69489745	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190823248	chr6:69489760-69489761	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147077538	chr6:69489794-69489795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546610452	chr6:69489806-69489807	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9454617	chr6:69489811-69489812	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529207877	chr6:69489832-69489833	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548971656	chr6:69489848-69489849	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138273332	chr6:69489857-69489858	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537992491	chr6:69489878-69489879	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576849751	chr6:69489895-69489896	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75254415	chr6:69489897-69489898	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149633062	chr6:69489904-69489905	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570995898	chr6:69489959-69489960	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539531874	chr6:69490028-69490029	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553357922	chr6:69490106-69490107	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573122696	chr6:69490107-69490108	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144399506	chr6:69490123-69490124	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148805655	chr6:69490136-69490137	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535600386	chr6:69490170-69490171	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544444888	chr6:69490287-69490288	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564325821	chr6:69490378-69490379	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577348639	chr6:69490397-69490398	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539921492	chr6:69490403-69490404	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182284734	chr6:69490405-69490406	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555535969	chr6:69490413-69490414	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528841774	chr6:69490456-69490457	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542911669	chr6:69490480-69490481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562815319	chr6:69490510-69490511	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531625045	chr6:69490520-69490521	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141616539	chr6:69490545-69490546	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs910123	chr6:69490577-69490578	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145952672	chr6:69490601-69490602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546739442	chr6:69490639-69490640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116122354	chr6:69490651-69490652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535529040	chr6:69490669-69490670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374710386	chr6:69490692-69490693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555331935	chr6:69490715-69490716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368224382	chr6:69490721-69490722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112081080	chr6:69490743-69490744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34848626	chr6:69490761-69490762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557952299	chr6:69490770-69490771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69484800-69490000	Enhancers	Fetal Brain Female	brain
2	chr6:69485000-69490400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:69486200-69489600	Enhancers	Fetal Lung	lung
4	chr6:69487600-69491200	Enhancers	Brain Germinal Matrix	brain
5	chr6:69487800-69490400	Enhancers	Fetal Brain Male	brain
6	chr6:69487800-69490600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:69487800-69490600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:69488400-69490000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:69488800-69489600	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr6:69488800-69489600	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr6:69489200-69489600	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr6:69489200-69489600	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr6:69489200-69489600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:69489200-69490600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:69489400-69489600	Enhancers	Brain Angular Gyrus	brain
16	chr6:69489400-69490200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:69489600-69489800	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr6:69489600-69489800	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:69489600-69489800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:69489600-69489800	Enhancers	Brain Substantia Nigra	brain
21	chr6:69489600-69490200	Enhancers	Brain Anterior Caudate	brain
22	chr6:69489600-69490200	Enhancers	Brain Hippocampus Middle	brain
23	chr6:69489600-69507000	Weak transcription	Fetal Lung	lung
24	chr6:69489800-69490400	Enhancers	Brain Angular Gyrus	brain
25	chr6:69490400-69493400	Weak transcription	Fetal Brain Male	brain
26	chr6:69499400-69499800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr6:69499800-69500000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:69499800-69500200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:69499800-69500200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr6:69499800-69500800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:69500000-69500200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:69500000-69500200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr6:69500200-69504600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:69504600-69504800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:69504800-69505400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:69505000-69505600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:69505000-69505600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:69505200-69505800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:69505400-69505600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:69505600-69522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:69505600-69536000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:69506200-69506600	Enhancers	Brain Hippocampus Middle	brain
43	chr6:69507000-69507200	Enhancers	Fetal Lung	lung
44	chr6:69510000-69525000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links