Variant report

Variant	nsv527427
Chromosome Location	chr17:46070253-46071584
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46068180..46070484-chr17:46078345..46080253,2	K562	blood:
2	chr17:46048584..46050536-chr17:46070948..46073138,3	MCF-7	breast:
3	chr17:46070058..46071807-chr17:46072298..46074102,2	K562	blood:
4	chr17:45898759..45901356-chr17:46070132..46072783,2	MCF-7	breast:
5	chr17:46070411..46072962-chr17:46123437..46126106,2	MCF-7	breast:
6	chr17:46065135..46066794-chr17:46070523..46072914,2	MCF-7	breast:
7	chr17:46070951..46073524-chr17:46127134..46129292,2	K562	blood:
8	chr17:46070659..46072225-chr17:46102465..46104720,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108465	chromatin interactions
ENSG00000006025	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000263412	chromatin interactions
ENSG00000264701	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1476578	chr17:46070253-46070254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374920430	chr17:46070297-46070298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552901652	chr17:46070354-46070355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571409446	chr17:46070387-46070388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538413748	chr17:46070406-46070407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566252768	chr17:46070414-46070415	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs1476579	chr17:46070431-46070432	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs574840016	chr17:46070433-46070434	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs537131387	chr17:46070446-46070447	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs71377334	chr17:46070494-46070495	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575827411	chr17:46070547-46070548	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs11658798	chr17:46070571-46070572	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs564798688	chr17:46070602-46070603	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs2597165	chr17:46070706-46070707	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs540996577	chr17:46070717-46070718	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs560738115	chr17:46070780-46070781	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs529727777	chr17:46070829-46070830	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs34632031	chr17:46070893-46070894	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182630531	chr17:46070944-46070945	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs185954124	chr17:46071023-46071024	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs532711011	chr17:46071074-46071075	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs552805550	chr17:46071089-46071090	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs145044767	chr17:46071093-46071094	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs535021766	chr17:46071206-46071207	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs149111560	chr17:46071231-46071232	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs113612496	chr17:46071269-46071270	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs372396867	chr17:46071313-46071314	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs537091812	chr17:46071410-46071411	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs557023725	chr17:46071422-46071423	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs143155127	chr17:46071427-46071428	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs183323159	chr17:46071438-46071439	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs111850208	chr17:46071506-46071507	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs572273251	chr17:46071537-46071538	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs146721987	chr17:46071550-46071551	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs2525094	chr17:46071584-46071585	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
2	chr17:46063400-46074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:46063600-46074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:46064200-46071000	Enhancers	HSMMtube	muscle
5	chr17:46064800-46071400	Weak transcription	Pancreas	Pancrea
6	chr17:46065400-46072600	Weak transcription	Fetal Lung	lung
7	chr17:46066400-46072600	Weak transcription	Spleen	Spleen
8	chr17:46068000-46070800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:46068000-46074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:46068000-46079800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr17:46068200-46071000	Enhancers	Fetal Brain Female	brain
12	chr17:46068200-46074200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:46068400-46073000	Weak transcription	Fetal Kidney	kidney
14	chr17:46069000-46071600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:46069000-46071600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:46069000-46072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:46069000-46072600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:46069000-46077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:46069000-46079600	Weak transcription	Fetal Thymus	thymus
20	chr17:46069200-46070600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr17:46069200-46072000	Weak transcription	Brain Germinal Matrix	brain
22	chr17:46069200-46072000	Weak transcription	Fetal Brain Male	brain
23	chr17:46069200-46074400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:46069400-46072000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:46069400-46072000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:46069400-46072600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:46069400-46072600	Weak transcription	Fetal Muscle Leg	muscle
28	chr17:46069600-46070800	Enhancers	Right Ventricle	heart
29	chr17:46069600-46071800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:46069800-46071600	Weak transcription	Placenta	Placenta
31	chr17:46069800-46071800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr17:46069800-46074400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:46069800-46075000	Weak transcription	HSMM	muscle
34	chr17:46070000-46071600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:46070000-46071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:46070000-46071600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:46070000-46072000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr17:46070000-46072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr17:46070000-46073000	Weak transcription	K562	blood
40	chr17:46070000-46075000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:46070200-46072000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr17:46070600-46070800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr17:46070600-46071600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:46070800-46071600	Weak transcription	Right Ventricle	heart
45	chr17:46070800-46072000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:46071000-46071400	Weak transcription	Fetal Brain Female	brain
47	chr17:46071000-46075200	Weak transcription	HSMMtube	muscle
48	chr17:46071400-46073800	Enhancers	Fetal Brain Female	brain
49	chr17:46071400-46074200	Enhancers	Pancreas	Pancrea

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