Variant report

Variant	nsv528484
Chromosome Location	chr6:44520451-44524173
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44499633..44501812-chr6:44521351..44523786,2	K562	blood:
2	chr6:44518479..44520787-chr6:44537963..44540818,2	K562	blood:
3	chr6:44521774..44524426-chr6:44524796..44527777,2	K562	blood:
4	chr6:44500312..44506091-chr6:44519423..44524807,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS2-2	chr6:44520550-44521019	NONHSAT112964
2	lnc-CDC5L-4	chr6:44519314-44521018	NONHSAT112966

No data

Extended variants
information (count: 156 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1322650	chr6:44520451-44520452	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570226688	chr6:44520486-44520487	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs531177985	chr6:44520546-44520547	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs112992947	chr6:44520552-44520553	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs146144771	chr6:44520636-44520637	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs558605016	chr6:44520657-44520658	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs535789428	chr6:44520715-44520716	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs553663078	chr6:44520826-44520827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs565901976	chr6:44520832-44520833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs571892058	chr6:44520836-44520837	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs539660151	chr6:44520923-44520924	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs558258049	chr6:44520943-44520944	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs527330107	chr6:44520944-44520945	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs148110716	chr6:44520989-44520990	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs374841145	chr6:44520998-44520999	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs368010860	chr6:44521012-44521013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs189487534	chr6:44521057-44521058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181542754	chr6:44521062-44521063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186409529	chr6:44521070-44521071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574245818	chr6:44521071-44521072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541735167	chr6:44521090-44521091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114825852	chr6:44521101-44521102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138972758	chr6:44521118-44521119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371972024	chr6:44521147-44521148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375280097	chr6:44521224-44521225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188837249	chr6:44521231-44521232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563790771	chr6:44521357-44521358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115207704	chr6:44521363-44521364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549356994	chr6:44521442-44521443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114580396	chr6:44521446-44521447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78053557	chr6:44521473-44521474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35469609	chr6:44521516-44521517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386406900	chr6:44521517-44521518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375243480	chr6:44521524-44521525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76164387	chr6:44521530-44521531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370515477	chr6:44521531-44521532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373418443	chr6:44521532-44521533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560770681	chr6:44521554-44521555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565858438	chr6:44521565-44521566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181567353	chr6:44521579-44521580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539596208	chr6:44521583-44521584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551614084	chr6:44521626-44521627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116009279	chr6:44521644-44521645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9472299	chr6:44521647-44521648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116322252	chr6:44521649-44521650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117268409	chr6:44521656-44521657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150852707	chr6:44521668-44521669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574011123	chr6:44521678-44521679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534722056	chr6:44521679-44521680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553600935	chr6:44521734-44521735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44513400-44523800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44520600-44526600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:44522400-44523000	Enhancers	Ovary	ovary
4	chr6:44522400-44523200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:44522400-44523200	Enhancers	Fetal Muscle Leg	muscle
6	chr6:44522400-44523200	Enhancers	HSMMtube	muscle
7	chr6:44522600-44522800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:44522600-44522800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr6:44522600-44523000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:44523000-44531000	Weak transcription	Ovary	ovary
11	chr6:44523200-44526200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:44523600-44524600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:44523800-44524000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:44523800-44524000	Enhancers	Gastric	stomach
15	chr6:44523800-44524000	Enhancers	Pancreas	Pancrea
16	chr6:44523800-44524200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:44523800-44527200	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:44523800-44527600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:44524000-44525000	Weak transcription	Pancreas	Pancrea
20	chr6:44524000-44527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:44524000-44531000	Weak transcription	Gastric	stomach

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