Variant report

Variant	nsv603590
Chromosome Location	chr6:68024291-68079700
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68036021..68038147-chr6:68069085..68071759,2	K562	blood:
2	chr6:67888637..67891235-chr6:68062524..68064747,2	K562	blood:
3	chr6:68047804..68050717-chr6:68052651..68054460,2	K562	blood:
4	chr6:68047804..68050717-chr6:68052651..68054460,2	K562	blood:
5	chr6:68036021..68038147-chr6:68069085..68071759,2	K562	blood:
6	chr6:68028783..68032532-chr6:68036632..68039695,4	K562	blood:
7	chr6:68029025..68030581-chr6:68070322..68071978,2	K562	blood:
8	chr3:40565910..40566852-chr6:68076614..68077483,2	MCF-7	breast:
9	chr6:68061490..68063825-chr6:68066626..68069282,2	K562	blood:
10	chr6:68062325..68064771-chr6:68066321..68068609,3	K562	blood:
11	chr22:36852253..36854026-chr6:68056023..68057523,2	K562	blood:
12	chr6:68055450..68058632-chr6:68060210..68064044,3	MCF-7	breast:
13	chr6:68077520..68081954-chr6:68082718..68085102,4	K562	blood:
14	chr6:68055450..68058632-chr6:68060210..68064044,3	MCF-7	breast:
15	chr6:67641579..67644100-chr6:68068975..68070914,2	K562	blood:
16	chr6:68062325..68064771-chr6:68066321..68068609,3	K562	blood:
17	chr6:68026494..68028999-chr6:68072957..68074504,2	K562	blood:
18	chr6:68028783..68032532-chr6:68036632..68039695,4	K562	blood:
19	chr6:68061490..68063825-chr6:68066626..68069282,2	K562	blood:
20	chr6:68029025..68030581-chr6:68070322..68071978,2	K562	blood:
21	chr6:68026494..68028999-chr6:68072957..68074504,2	K562	blood:
22	chr6:68075451..68077006-chr6:68082097..68085010,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172888	chromatin interactions

Extended variants
information (count: 855 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:855 , 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	rs574005238	chr6:68029205-68029206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564012048	chr6:68029230-68029231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72885530	chr6:68029243-68029244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575581620	chr6:68029253-68029254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527932849	chr6:68029272-68029273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544422486	chr6:68029307-68029308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185134795	chr6:68029316-68029317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532966721	chr6:68029326-68029327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187983921	chr6:68029335-68029336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559986517	chr6:68029343-68029344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369851151	chr6:68029365-68029366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200057227	chr6:68029378-68029379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548527648	chr6:68029382-68029383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148600025	chr6:68029435-68029436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139086338	chr6:68029436-68029437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78728216	chr6:68029440-68029441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398085003	chr6:68029444-68029445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397886190	chr6:68029445-68029446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181209940	chr6:68029454-68029455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531852573	chr6:68029466-68029467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34290797	chr6:68029533-68029534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531188222	chr6:68030427-68030428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551706204	chr6:68030445-68030446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568428854	chr6:68030460-68030461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192389806	chr6:68030474-68030475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112484487	chr6:68030532-68030533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527897525	chr6:68030533-68030534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547629462	chr6:68030548-68030549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567769211	chr6:68030574-68030575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536710296	chr6:68030583-68030584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11964922	chr6:68030639-68030640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34164578	chr6:68030644-68030645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs77098632	chr6:68030655-68030656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201959518	chr6:68030679-68030680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558071708	chr6:68030711-68030712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13204158	chr6:68030725-68030726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558925429	chr6:68030728-68030729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533992345	chr6:68030816-68030817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375272972	chr6:68030939-68030940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570438360	chr6:68030954-68030955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573488203	chr6:68030966-68030967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542344691	chr6:68030968-68030969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562243447	chr6:68030973-68030974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537811722	chr6:68030977-68030978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183712186	chr6:68031013-68031014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544639545	chr6:68031081-68031082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556138605	chr6:68031090-68031091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574408910	chr6:68031164-68031165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565576025	chr6:68031176-68031177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375483107	chr6:68031180-68031181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68029200-68029600	Enhancers	HepG2	liver
2	chr6:68030400-68030800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:68030400-68035600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:68031800-68032400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:68037800-68038200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:68040600-68041200	Enhancers	Fetal Brain Male	brain
7	chr6:68041200-68041600	Weak transcription	Fetal Brain Male	brain
8	chr6:68041600-68042000	Enhancers	Fetal Brain Male	brain
9	chr6:68050200-68050600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:68050600-68054000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:68054000-68054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:68055600-68056600	Enhancers	HMEC	breast
13	chr6:68055600-68056600	Enhancers	NHEK	skin
14	chr6:68055800-68056400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:68056000-68056400	Enhancers	HepG2	liver
16	chr6:68056200-68056600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:68062800-68064200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:68063000-68064400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:68063600-68064400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:68068200-68068800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:68068200-68069400	Enhancers	K562	blood
22	chr6:68068800-68071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:68069400-68071000	Weak transcription	K562	blood
24	chr6:68070800-68071000	Enhancers	HepG2	liver
25	chr6:68070800-68071400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:68071000-68071200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:68071000-68071200	Enhancers	Dnd41	blood
28	chr6:68071000-68071200	Flanking Active TSS	K562	blood
29	chr6:68071000-68071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:68071000-68071400	Flanking Active TSS	HepG2	liver
31	chr6:68071000-68071600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:68071000-68071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:68071200-68071400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:68071200-68071400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:68071200-68071600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:68071200-68071600	Flanking Active TSS	Dnd41	blood
37	chr6:68071200-68071800	Active TSS	A549	lung
38	chr6:68071200-68073800	Active TSS	K562	blood
39	chr6:68071400-68071800	Active TSS	HepG2	liver
40	chr6:68071600-68072000	Enhancers	Dnd41	blood
41	chr6:68073800-68074000	Flanking Active TSS	K562	blood

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