Variant report

Variant	nsv543386
Chromosome Location	chr17:50586897-50856553
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165118668..165119319-chr17:50770913..50771715,2	MCF-7	breast:
2	chr17:50845542..50847154-chr17:50852610..50855460,2	K562	blood:
3	chr17:50675490..50676246-chr5:85861973..85862474,2	MCF-7	breast:
4	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
5	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
6	chr17:50746285..50747805-chr17:50749612..50751309,2	K562	blood:
7	chr17:50674880..50675413-chr17:52249846..52250473,2	MCF-7	breast:
8	chr17:50746285..50747805-chr17:50749612..50751309,2	K562	blood:
9	chr17:50674625..50675217-chr17:51227188..51227968,2	MCF-7	breast:
10	chr17:50797973..50799788-chr17:50803653..50805561,2	K562	blood:
11	chr17:50797973..50799788-chr17:50803653..50805561,2	K562	blood:
12	chr17:50845542..50847154-chr17:50852610..50855460,2	K562	blood:
13	chr17:50636033..50636551-chr18:41415783..41416345,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC102948.1.1-3	chr17:50609892-50609954	ENSG00000263317.1
2	lnc-AC102948.1.1-3	chr17:50612985-50613061	ENSG00000263317.1
3	lnc-AC102948.1.1-3	chr17:50612093-50612184	ENSG00000263317.1

No data

Extended variants
information (count: 3091 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3091 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544014036	chr17:50596028-50596029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs350000	chr17:50596032-50596033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535536906	chr17:50596061-50596062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369783359	chr17:50596075-50596076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7214586	chr17:50596175-50596176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373285074	chr17:50596185-50596186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575587440	chr17:50596199-50596200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72842604	chr17:50609605-50609606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535382202	chr17:50609635-50609636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555673191	chr17:50609649-50609650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35927514	chr17:50609671-50609672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150580002	chr17:50609673-50609674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538012353	chr17:50609694-50609695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558000291	chr17:50609727-50609728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140635780	chr17:50609729-50609730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540350997	chr17:50609730-50609731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559892963	chr17:50609877-50609878	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2319982	chr17:50609885-50609886	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115285716	chr17:50609923-50609924	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs569335873	chr17:50609933-50609934	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531130140	chr17:50609990-50609991	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73987710	chr17:50610007-50610008	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564372172	chr17:50610054-50610055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533244208	chr17:50610129-50610130	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185444831	chr17:50610132-50610133	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566742904	chr17:50610151-50610152	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190320471	chr17:50610171-50610172	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549110440	chr17:50610214-50610215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371225455	chr17:50610258-50610259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529453732	chr17:50610305-50610306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569141299	chr17:50610318-50610319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542055088	chr17:50610470-50610471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs349993	chr17:50610495-50610496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577959294	chr17:50610542-50610543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114452355	chr17:50610688-50610689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553792589	chr17:50610701-50610702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573660572	chr17:50610714-50610715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542581514	chr17:50610822-50610823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562158323	chr17:50610906-50610907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569031218	chr17:50610924-50610925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575514548	chr17:50610928-50610929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544528864	chr17:50610976-50610977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564336296	chr17:50610988-50610989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533613985	chr17:50611119-50611120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192616905	chr17:50611125-50611126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75394927	chr17:50611211-50611212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9913194	chr17:50611371-50611372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184777330	chr17:50611399-50611400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71151703	chr17:50611406-50611407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531539172	chr17:50611408-50611409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50596000-50596200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:50609600-50609800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr17:50609600-50610200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr17:50609800-50610200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr17:50610200-50613800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr17:50610200-50614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:50613000-50615800	Enhancers	Fetal Muscle Leg	muscle
8	chr17:50613400-50615200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr17:50613600-50614000	Enhancers	Psoas Muscle	Psoas
10	chr17:50613600-50614200	Enhancers	Ovary	ovary
11	chr17:50613600-50615000	Enhancers	Fetal Stomach	stomach
12	chr17:50613800-50614000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:50613800-50614000	Enhancers	Right Atrium	heart
14	chr17:50613800-50614000	ZNF genes & repeats	Spleen	Spleen
15	chr17:50613800-50614200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr17:50613800-50614400	Enhancers	Fetal Lung	lung
17	chr17:50613800-50615000	Enhancers	Fetal Brain Female	brain
18	chr17:50614000-50614200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:50614000-50614200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr17:50614000-50614200	Enhancers	Fetal Brain Male	brain
21	chr17:50614200-50615200	Weak transcription	Fetal Brain Male	brain
22	chr17:50614400-50614800	Weak transcription	Fetal Lung	lung
23	chr17:50614600-50614800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr17:50614600-50615000	Enhancers	Adipose Nuclei	Adipose
25	chr17:50614800-50615000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:50614800-50615200	Enhancers	Fetal Lung	lung
27	chr17:50615200-50615400	Enhancers	Fetal Brain Male	brain
28	chr17:50615200-50615800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:50622400-50622800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:50622800-50623200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:50623200-50625200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:50623800-50624400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr17:50624000-50624400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr17:50624000-50624400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr17:50624000-50625000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:50653600-50654000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr17:50674600-50675600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:50677200-50677600	Enhancers	Psoas Muscle	Psoas
39	chr17:50678600-50679000	Active TSS	Fetal Muscle Leg	muscle
40	chr17:50679200-50679600	Enhancers	Fetal Muscle Trunk	muscle
41	chr17:50679800-50680000	Enhancers	Fetal Muscle Leg	muscle
42	chr17:50681000-50684000	Enhancers	HUVEC	blood vessel
43	chr17:50681400-50681800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr17:50681400-50682200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:50681400-50682200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:50682200-50683600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:50682400-50682600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr17:50682600-50683000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr17:50682600-50683000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:50682800-50684000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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