Variant report

Variant	nsv521092
Chromosome Location	chr17:45309693-45317499
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:2)
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	chr17:45315467..45317488-chr17:45387881..45390169,2	MCF-7	breast:
2	chr17:45311950..45314693-chr17:45316082..45319144,3	K562	blood:
3	chr17:45223999..45225599-chr17:45315426..45317942,2	K562	blood:
4	chr17:45308918..45311294-chr17:45317434..45318977,2	K562	blood:
5	chr17:45311950..45314693-chr17:45316082..45319144,3	K562	blood:
6	chr17:45306864..45308654-chr17:45310758..45312304,2	MCF-7	breast:
7	chr17:45297169..45299331-chr17:45310686..45313028,2	K562	blood:
8	chr17:45305837..45309008-chr17:45313405..45315818,4	K562	blood:
9	chr17:45307818..45310249-chr17:45315269..45317004,2	K562	blood:
10	chr17:45290579..45293565-chr17:45317348..45318861,2	K562	blood:
11	chr17:45311474..45313567-chr17:45373513..45375488,2	K562	blood:
12	chr17:45308918..45311294-chr17:45317434..45318977,2	K562	blood:
13	chr17:45314938..45317861-chr17:45328572..45331526,2	K562	blood:
14	chr17:45307818..45310249-chr17:45315269..45317004,2	K562	blood:
15	chr17:45312410..45314597-chr17:45339201..45341519,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYL4-3	chr17:45311741-45311788	NONHSAT054292
2	lnc-MYL4-3	chr17:45315447-45315746	NONHSAT054292

No data

Variant related genes	Relation type
ENSG00000259753	chromatin interactions
ENSG00000252088	chromatin interactions
ENSG00000198336	chromatin interactions
ENSG00000259207	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11079764	chr17:45309693-45309694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance disease
2	rs545118832	chr17:45309720-45309721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73329141	chr17:45309729-45309730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571852678	chr17:45309730-45309731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73329144	chr17:45309799-45309800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73329147	chr17:45309832-45309833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144609076	chr17:45309842-45309843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530318232	chr17:45309844-45309845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138472423	chr17:45309871-45309872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568898252	chr17:45309895-45309896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376435825	chr17:45309944-45309945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186943802	chr17:45309947-45309948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551120470	chr17:45309950-45309951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73329148	chr17:45309997-45309998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530723782	chr17:45310015-45310016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535053274	chr17:45310022-45310023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369096576	chr17:45310032-45310033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111596707	chr17:45310059-45310060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553673438	chr17:45310080-45310081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112598647	chr17:45310082-45310083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376274268	chr17:45310104-45310105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150661299	chr17:45310122-45310123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73329153	chr17:45310145-45310146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576486748	chr17:45310184-45310185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149407390	chr17:45310194-45310195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558956493	chr17:45310201-45310202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572492178	chr17:45310245-45310246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73329154	chr17:45310246-45310247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561575191	chr17:45310255-45310256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73329158	chr17:45310275-45310276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17605188	chr17:45310291-45310292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562584210	chr17:45310298-45310299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397857037	chr17:45310316-45310317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189114670	chr17:45310480-45310481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373616557	chr17:45310545-45310546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368075766	chr17:45310550-45310551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570535114	chr17:45310565-45310566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551472602	chr17:45310604-45310605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564511612	chr17:45310607-45310608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118188966	chr17:45310612-45310613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181095872	chr17:45310663-45310664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185781751	chr17:45310696-45310697	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs73329161	chr17:45310745-45310746	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371626828	chr17:45310772-45310773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549742184	chr17:45310802-45310803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370469508	chr17:45310824-45310825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375752424	chr17:45310826-45310827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569846952	chr17:45310872-45310873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs112332470	chr17:45310874-45310875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559093435	chr17:45310891-45310892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	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
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45303800-45309800	Weak transcription	Small Intestine	intestine
2	chr17:45304200-45316600	Weak transcription	Left Ventricle	heart
3	chr17:45307200-45310600	Weak transcription	Lung	lung
4	chr17:45307800-45309800	Weak transcription	Ovary	ovary
5	chr17:45307800-45310400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:45307800-45310800	Enhancers	K562	blood
7	chr17:45307800-45314000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:45307800-45316400	Weak transcription	Fetal Heart	heart
9	chr17:45307800-45317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:45308000-45309800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:45308000-45316800	Weak transcription	HSMMtube	muscle
12	chr17:45308200-45310400	Weak transcription	HUVEC	blood vessel
13	chr17:45308200-45312600	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:45308200-45314000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:45308200-45317000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr17:45308400-45313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:45308600-45310600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:45308600-45314000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:45308600-45314000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:45308800-45310400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45309000-45310600	Enhancers	Liver	Liver
22	chr17:45309000-45316600	Weak transcription	Hela-S3	cervix
23	chr17:45309400-45310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:45309600-45314000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:45309800-45310600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:45309800-45310600	Enhancers	Small Intestine	intestine
27	chr17:45309800-45310800	Enhancers	Ovary	ovary
28	chr17:45310400-45310600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr17:45310400-45310800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:45310400-45310800	Enhancers	HUVEC	blood vessel
31	chr17:45310600-45310800	Enhancers	Lung	lung
32	chr17:45310600-45310800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr17:45310600-45314600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:45310800-45312000	Weak transcription	HUVEC	blood vessel
35	chr17:45310800-45316800	Weak transcription	K562	blood
36	chr17:45312600-45314400	Strong transcription	Fetal Muscle Leg	muscle
37	chr17:45313200-45314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:45314000-45314200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:45314000-45314200	Enhancers	Right Atrium	heart
40	chr17:45314000-45314200	Enhancers	Right Ventricle	heart
41	chr17:45314000-45314800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr17:45314000-45316000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:45314000-45316000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:45314000-45316400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:45314200-45314600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:45314200-45316600	Weak transcription	Right Atrium	heart
47	chr17:45314200-45317000	Weak transcription	Right Ventricle	heart
48	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:45314400-45315000	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr17:45314600-45315000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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