Variant report

Variant	nsv575554
Chromosome Location	chr17:50566353-50853775
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:50797973..50799788-chr17:50803653..50805561,2	K562	blood:
2	chr17:50675490..50676246-chr5:85861973..85862474,2	MCF-7	breast:
3	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
4	chr17:50845542..50847154-chr17:50852610..50855460,2	K562	blood:
5	chr17:50797973..50799788-chr17:50803653..50805561,2	K562	blood:
6	chr17:50570903..50573840-chr17:50575722..50577481,2	MCF-7	breast:
7	chr17:50570903..50573840-chr17:50575722..50577481,2	MCF-7	breast:
8	chr17:50746285..50747805-chr17:50749612..50751309,2	K562	blood:
9	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
10	chr17:50746285..50747805-chr17:50749612..50751309,2	K562	blood:
11	chr17:50674880..50675413-chr17:52249846..52250473,2	MCF-7	breast:
12	chr1:121484725..121485412-chr17:50577787..50578626,2	MCF-7	breast:
13	chr17:50845542..50847154-chr17:50852610..50855460,2	K562	blood:
14	chr17:50636033..50636551-chr18:41415783..41416345,2	MCF-7	breast:
15	chr17:50674625..50675217-chr17:51227188..51227968,2	MCF-7	breast:
16	chr1:165118668..165119319-chr17:50770913..50771715,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 3169 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3169 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72841075	chr17:50577260-50577261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59513297	chr17:50577306-50577307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568610987	chr17:50577311-50577312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531961179	chr17:50577321-50577322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548697029	chr17:50577366-50577367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551792455	chr17:50577392-50577393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567292931	chr17:50577404-50577405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527954236	chr17:50577414-50577415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547778599	chr17:50577443-50577444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567807800	chr17:50577458-50577459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535191646	chr17:50577483-50577484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187800910	chr17:50577487-50577488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570196770	chr17:50577503-50577504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34608133	chr17:50577515-50577516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536056199	chr17:50577545-50577546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192157025	chr17:50577580-50577581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12601722	chr17:50577597-50577598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372875279	chr17:50577620-50577621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534874614	chr17:50577644-50577645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554606519	chr17:50577659-50577660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12601737	chr17:50577694-50577695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543282401	chr17:50577729-50577730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563383938	chr17:50577761-50577762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184673960	chr17:50577776-50577777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545518990	chr17:50577817-50577818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138267293	chr17:50577853-50577854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs41431048	chr17:50577867-50577868	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs36024840	chr17:50577889-50577890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10515018	chr17:50577892-50577893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs566376810	chr17:50577897-50577898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9303599	chr17:50577944-50577945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs369262687	chr17:50577979-50577980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554653118	chr17:50577994-50577995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116733351	chr17:50577999-50578000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371927655	chr17:50578018-50578019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12600373	chr17:50578019-50578020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs558972675	chr17:50578043-50578044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576931670	chr17:50578064-50578065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552711183	chr17:50578130-50578131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117477084	chr17:50578199-50578200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544756350	chr17:50578327-50578328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78215705	chr17:50578330-50578331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146102579	chr17:50578368-50578369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568299979	chr17:50578440-50578441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75137400	chr17:50578468-50578469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75614134	chr17:50578510-50578511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189539145	chr17:50578665-50578666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545452558	chr17:50578681-50578682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542940775	chr17:50578785-50578786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552691883	chr17:50578792-50578793	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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50577200-50577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:50577800-50582400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:50582400-50583400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:50582600-50583000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr17:50582600-50583400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr17:50596000-50596200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:50609600-50609800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr17:50609600-50610200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr17:50609800-50610200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr17:50610200-50613800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:50610200-50614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:50613000-50615800	Enhancers	Fetal Muscle Leg	muscle
13	chr17:50613400-50615200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr17:50613600-50614000	Enhancers	Psoas Muscle	Psoas
15	chr17:50613600-50614200	Enhancers	Ovary	ovary
16	chr17:50613600-50615000	Enhancers	Fetal Stomach	stomach
17	chr17:50613800-50614000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:50613800-50614000	Enhancers	Right Atrium	heart
19	chr17:50613800-50614000	ZNF genes & repeats	Spleen	Spleen
20	chr17:50613800-50614200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr17:50613800-50614400	Enhancers	Fetal Lung	lung
22	chr17:50613800-50615000	Enhancers	Fetal Brain Female	brain
23	chr17:50614000-50614200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr17:50614000-50614200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr17:50614000-50614200	Enhancers	Fetal Brain Male	brain
26	chr17:50614200-50615200	Weak transcription	Fetal Brain Male	brain
27	chr17:50614400-50614800	Weak transcription	Fetal Lung	lung
28	chr17:50614600-50614800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr17:50614600-50615000	Enhancers	Adipose Nuclei	Adipose
30	chr17:50614800-50615000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:50614800-50615200	Enhancers	Fetal Lung	lung
32	chr17:50615200-50615400	Enhancers	Fetal Brain Male	brain
33	chr17:50615200-50615800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr17:50622400-50622800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:50622800-50623200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:50623200-50625200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:50623800-50624400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr17:50624000-50624400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr17:50624000-50624400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr17:50624000-50625000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:50653600-50654000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr17:50674600-50675600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:50677200-50677600	Enhancers	Psoas Muscle	Psoas
44	chr17:50678600-50679000	Active TSS	Fetal Muscle Leg	muscle
45	chr17:50679200-50679600	Enhancers	Fetal Muscle Trunk	muscle
46	chr17:50679800-50680000	Enhancers	Fetal Muscle Leg	muscle
47	chr17:50681000-50684000	Enhancers	HUVEC	blood vessel
48	chr17:50681400-50681800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr17:50681400-50682200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:50681400-50682200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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