Variant report

Variant	nsv603639
Chromosome Location	chr6:71595151-71623253
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:71610333..71612285-chr6:71613695..71615747,2	K562	blood:
2	chr6:71593768..71598553-chr6:71600213..71604181,5	K562	blood:
3	chr1:227199734..227200559-chr6:71601096..71601915,2	MCF-7	breast:
4	chr6:71593768..71598553-chr6:71600213..71604181,5	K562	blood:
5	chr6:71596480..71598163-chr6:71613473..71615204,2	K562	blood:
6	chr6:71422116..71424990-chr6:71593570..71595657,2	MCF-7	breast:
7	chr6:71415933..71416670-chr6:71595083..71595592,2	K562	blood:
8	chr6:71606070..71607915-chr6:71612676..71615481,2	K562	blood:
9	chr6:71596480..71598163-chr6:71613473..71615204,2	K562	blood:
10	chr6:71591348..71594063-chr6:71596399..71599192,2	K562	blood:
11	chr6:71606070..71607915-chr6:71612676..71615481,2	K562	blood:
12	chr6:71610333..71612285-chr6:71613695..71615747,2	K562	blood:

No data

Extended variants
information (count: 500 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1716010	chr6:71595151-71595152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371374814	chr6:71595193-71595194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573388799	chr6:71595242-71595243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147607326	chr6:71595305-71595306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559106664	chr6:71595310-71595311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1741824	chr6:71595321-71595322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74983678	chr6:71595348-71595349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369856609	chr6:71595356-71595357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142276657	chr6:71595390-71595391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188102513	chr6:71595426-71595427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112534571	chr6:71595427-71595428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs117495428	chr6:71595482-71595483	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560616045	chr6:71595485-71595486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528195530	chr6:71595518-71595519	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570578081	chr6:71595564-71595565	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs13212642	chr6:71595571-71595572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs605227	chr6:71595589-71595590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550850513	chr6:71595609-71595610	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146071168	chr6:71595625-71595626	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539265805	chr6:71595644-71595645	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs604821	chr6:71595648-71595649	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567729440	chr6:71595665-71595666	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534728421	chr6:71595684-71595685	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566921717	chr6:71595716-71595717	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534297760	chr6:71595731-71595732	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17708000	chr6:71595747-71595748	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148270350	chr6:71595779-71595780	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77977940	chr6:71595798-71595799	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556801617	chr6:71595829-71595830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567709327	chr6:71595860-71595861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs593132	chr6:71595924-71595925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539299025	chr6:71595950-71595951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542189615	chr6:71595951-71595952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554147254	chr6:71595969-71595970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572566222	chr6:71596004-71596005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540316147	chr6:71596022-71596023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs496249	chr6:71596028-71596029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs532314423	chr6:71596029-71596030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182296304	chr6:71596054-71596055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562772719	chr6:71596068-71596069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530016883	chr6:71596101-71596102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs592243	chr6:71596126-71596127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs566862902	chr6:71596156-71596157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539578140	chr6:71596188-71596189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374307904	chr6:71596193-71596194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543587735	chr6:71596204-71596205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376111016	chr6:71596214-71596215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552617887	chr6:71596216-71596217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs591733	chr6:71596263-71596264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538402669	chr6:71596268-71596269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71584400-71595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:71593600-71596400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:71593800-71595800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:71593800-71596200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:71594000-71595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:71594000-71596400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:71594200-71596000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:71594400-71595400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:71594400-71595800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:71594400-71596200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:71594600-71595400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:71594600-71595400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:71594600-71595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:71594600-71595600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:71594800-71595400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:71595400-71595800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:71595400-71595800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:71595400-71596000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:71595400-71596000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:71595600-71596000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:71595800-71596000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:71595800-71596400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:71595800-71597200	Enhancers	Fetal Muscle Leg	muscle
24	chr6:71595800-71597800	Enhancers	HSMMtube	muscle
25	chr6:71596000-71598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:71596200-71596800	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:71596200-71596800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:71596200-71596800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:71596200-71597600	Enhancers	Fetal Muscle Trunk	muscle
30	chr6:71596400-71602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:71597200-71597600	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:71597600-71597800	Enhancers	Fetal Muscle Leg	muscle
33	chr6:71597800-71598800	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:71598200-71598400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:71598800-71599000	Enhancers	Fetal Muscle Leg	muscle
36	chr6:71602600-71602800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:71603800-71604000	Bivalent Enhancer	NHDF-Ad	bronchial
38	chr6:71613600-71614000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:71613800-71614000	Enhancers	Adipose Nuclei	Adipose
40	chr6:71613800-71614400	Enhancers	K562	blood
41	chr6:71614000-71614600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:71614000-71615200	Weak transcription	Adipose Nuclei	Adipose
43	chr6:71614600-71615400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:71615200-71615600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:71615200-71616200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:71615200-71616400	Enhancers	Adipose Nuclei	Adipose
47	chr6:71615400-71615800	Enhancers	Brain Anterior Caudate	brain
48	chr6:71615400-71617600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:71617200-71618400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:71617600-71618000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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