Variant report

Variant	nsv1025157
Chromosome Location	chr5:120175806-120307539
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:120250931..120253908-chr5:120255261..120258114,2	K562	blood:
2	chr5:120193977..120195872-chr5:120199617..120202112,2	K562	blood:
3	chr5:120182804..120185937-chr5:120188813..120191326,3	K562	blood:
4	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
5	chr5:120250931..120253908-chr5:120255261..120258114,2	K562	blood:
6	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
7	chr5:120193977..120195872-chr5:120199617..120202112,2	K562	blood:
8	chr5:120250931..120253908-chr5:120254077..120258114,3	K562	blood:
9	chr5:120300949..120302956-chr5:121296548..121298304,2	K562	blood:
10	chr5:120182804..120185937-chr5:120188813..120191326,3	K562	blood:
11	chr5:120250931..120253908-chr5:120254077..120258114,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151304	chromatin interactions

Extended variants
information (count: 3339 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3339 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10085104	chr5:120175806-120175807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181451381	chr5:120175850-120175851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560752315	chr5:120175856-120175857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150946387	chr5:120175868-120175869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201858485	chr5:120175875-120175876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541107483	chr5:120175885-120175886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565110886	chr5:120175893-120175894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559657441	chr5:120175909-120175910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372356987	chr5:120176243-120176244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559231914	chr5:120176278-120176279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188395729	chr5:120176290-120176291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538596261	chr5:120176291-120176292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542076626	chr5:120176315-120176316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374029678	chr5:120176323-120176324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62381120	chr5:120176330-120176331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552252951	chr5:120176347-120176348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370565955	chr5:120176381-120176382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574946713	chr5:120176395-120176396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542354781	chr5:120176402-120176403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560732690	chr5:120176419-120176420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573020217	chr5:120176423-120176424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181004496	chr5:120176442-120176443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149947638	chr5:120176460-120176461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565151917	chr5:120176488-120176489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35376648	chr5:120176523-120176524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566369395	chr5:120176550-120176551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147080266	chr5:120176579-120176580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551964436	chr5:120176583-120176584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373969368	chr5:120176618-120176619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562914498	chr5:120176665-120176666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571885853	chr5:120176675-120176676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186078519	chr5:120176707-120176708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567050652	chr5:120176750-120176751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192054188	chr5:120176754-120176755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182325538	chr5:120176773-120176774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375858701	chr5:120176774-120176775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187044478	chr5:120176802-120176803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538159687	chr5:120176857-120176858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564223170	chr5:120176858-120176859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556536242	chr5:120176870-120176871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147725977	chr5:120176878-120176879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535920484	chr5:120176908-120176909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554214630	chr5:120176921-120176922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548419648	chr5:120176939-120176940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73263349	chr5:120176961-120176962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528181359	chr5:120176964-120176965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140185120	chr5:120176970-120176971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533035904	chr5:120176998-120176999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540381332	chr5:120177001-120177002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13170286	chr5:120177018-120177019	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120175200-120176000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120176200-120177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:120176400-120177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:120177600-120178400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:120177800-120178000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:120177800-120179600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:120177800-120179800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:120177800-120180200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:120178000-120178600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:120178000-120180200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:120178200-120179600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:120178200-120180200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:120178400-120179400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:120178600-120180000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:120178600-120180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:120178600-120180000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:120178800-120179400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:120178800-120179600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:120178800-120180000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:120179200-120179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:120179400-120181600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:120179400-120186800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:120179600-120184200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:120179800-120186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:120180000-120184200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:120180000-120184400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:120180000-120186800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:120180200-120184400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:120180200-120184400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:120180200-120184400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:120181600-120181800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:120184000-120185000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr5:120184200-120184400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr5:120184200-120184600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:120184200-120184800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:120184200-120184800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:120184200-120185400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr5:120184200-120185600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr5:120184200-120185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:120184400-120184800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:120184400-120184800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:120184400-120184800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:120184400-120184800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:120184400-120184800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:120184400-120184800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:120184400-120184800	Enhancers	Fetal Muscle Trunk	muscle
47	chr5:120184400-120185200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:120184400-120185400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:120184600-120184800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:120184600-120188200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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