Variant report

Variant	nsv1018897
Chromosome Location	chr5:50284474-50344007
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:50304923..50306559-chr5:50306573..50309153,2	K562	blood:
2	chr5:50314602..50317212-chr5:50322143..50323738,2	K562	blood:
3	chr5:50303855..50306258-chr5:50309286..50310998,2	MCF-7	breast:
4	chr5:50325650..50327333-chr5:50328782..50330761,2	K562	blood:
5	chr5:50310953..50312877-chr5:50313378..50315207,2	MCF-7	breast:
6	chr17:13239883..13242587-chr5:50327440..50329505,2	MCF-7	breast:
7	chr5:50325833..50328236-chr5:50328684..50330761,2	K562	blood:
8	chr5:50325833..50328236-chr5:50328684..50330761,2	K562	blood:
9	chr5:50325650..50327333-chr5:50328782..50330761,2	K562	blood:
10	chr5:50279441..50281819-chr5:50283644..50286120,3	MCF-7	breast:
11	chr5:50323124..50325476-chr5:50337823..50339529,2	K562	blood:
12	chr5:50314602..50317212-chr5:50322143..50323738,2	K562	blood:
13	chr5:50333550..50335728-chr5:50344453..50346313,2	K562	blood:
14	chr5:50310953..50312877-chr5:50313378..50315207,2	MCF-7	breast:
15	chr5:50323124..50325476-chr5:50337823..50339529,2	K562	blood:
16	chr5:50286535..50288788-chr5:50290232..50292013,2	K562	blood:
17	chr5:50303855..50306258-chr5:50309286..50310998,2	MCF-7	breast:
18	chr5:50328380..50330318-chr5:50349107..50350789,2	MCF-7	breast:
19	chr5:50304923..50306559-chr5:50306573..50309153,2	K562	blood:
20	chr5:50330344..50330970-chr5:50356470..50357101,2	MCF-7	breast:
21	chr22:38024859..38027082-chr5:50322828..50325046,2	MCF-7	breast:
22	chr5:50309868..50312165-chr5:50319005..50321360,2	K562	blood:
23	chr5:50309868..50312165-chr5:50319005..50321360,2	K562	blood:
24	chr5:50286535..50288788-chr5:50290232..50292013,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PARP8-4	chr5:50335637-50335838	NONHSAT147332

No data

Variant related genes	Relation type
ENSG00000100083	chromatin interactions

Extended variants
information (count: 983 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139981816	chr5:50284542-50284543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556160126	chr5:50284547-50284548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16888260	chr5:50284548-50284549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535093595	chr5:50284553-50284554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555346774	chr5:50284624-50284625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571782251	chr5:50284743-50284744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs250218	chr5:50284749-50284750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559524940	chr5:50284904-50284905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563874848	chr5:50284935-50284936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533321056	chr5:50285040-50285041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375610097	chr5:50285050-50285051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577002586	chr5:50285062-50285063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546424399	chr5:50285144-50285145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563832332	chr5:50285166-50285167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563032464	chr5:50285167-50285168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373511004	chr5:50285169-50285170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574345864	chr5:50285257-50285258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377461521	chr5:50285296-50285297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548241939	chr5:50285330-50285331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562085199	chr5:50285340-50285341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141812665	chr5:50285369-50285370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547895323	chr5:50285388-50285389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10054150	chr5:50285398-50285399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs983098	chr5:50285458-50285459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs539251518	chr5:50285503-50285504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117845221	chr5:50285507-50285508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551220679	chr5:50285589-50285590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537874487	chr5:50285634-50285635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113171713	chr5:50285649-50285650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190349163	chr5:50285666-50285667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368204313	chr5:50285673-50285674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554911004	chr5:50285697-50285698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150792980	chr5:50285789-50285790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs250219	chr5:50285812-50285813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs181537922	chr5:50285910-50285911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186617352	chr5:50285912-50285913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577359697	chr5:50285931-50285932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367996130	chr5:50285948-50285949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116423620	chr5:50285979-50285980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563101937	chr5:50286006-50286007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139173227	chr5:50286058-50286059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542524913	chr5:50286059-50286060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191023451	chr5:50286115-50286116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568403169	chr5:50286159-50286160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527664234	chr5:50286196-50286197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180857914	chr5:50286232-50286233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564559934	chr5:50286296-50286297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185258936	chr5:50286297-50286298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549684135	chr5:50286313-50286314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530469210	chr5:50286345-50286346	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50284200-50284800	Enhancers	Fetal Heart	heart
2	chr5:50284800-50285800	Weak transcription	Fetal Heart	heart
3	chr5:50285600-50287600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:50286000-50286200	Enhancers	Fetal Heart	heart
5	chr5:50286400-50286800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:50286400-50286800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:50291000-50291600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:50291200-50291800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:50291400-50291800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:50296800-50297400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:50297400-50298400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:50308200-50308600	Enhancers	Stomach Mucosa	stomach
13	chr5:50308600-50309000	Weak transcription	Stomach Mucosa	stomach
14	chr5:50309000-50309400	Enhancers	Liver	Liver
15	chr5:50309000-50309600	Enhancers	Stomach Mucosa	stomach
16	chr5:50310200-50310800	Enhancers	Fetal Heart	heart
17	chr5:50310800-50314800	Weak transcription	Fetal Heart	heart
18	chr5:50314800-50316200	Enhancers	Fetal Heart	heart
19	chr5:50327600-50329600	Enhancers	Fetal Heart	heart
20	chr5:50329000-50329200	Enhancers	Stomach Mucosa	stomach
21	chr5:50329200-50330200	Weak transcription	Stomach Mucosa	stomach
22	chr5:50330200-50330400	Enhancers	Liver	Liver
23	chr5:50330200-50330800	Enhancers	Stomach Mucosa	stomach
24	chr5:50330200-50331200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:50330400-50330800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:50330800-50334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:50331000-50331200	Enhancers	Liver	Liver
28	chr5:50333400-50335200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:50334200-50335000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:50334200-50336400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:50335200-50335800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:50335200-50336200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:50335400-50336000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:50335800-50336000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:50335800-50336000	Enhancers	Brain Germinal Matrix	brain
36	chr5:50335800-50336200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:50336600-50336800	Enhancers	Brain Germinal Matrix	brain
38	chr5:50339000-50340000	Enhancers	Fetal Heart	heart
39	chr5:50339400-50339800	Enhancers	HMEC	breast
40	chr5:50339400-50340400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:50339800-50340600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:50343400-50344800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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