Variant report

Variant	nsv882807
Chromosome Location	chr5:120758647-120873947
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:120810139..120812318-chr5:120820921..120823113,2	K562	blood:
2	chr5:120810139..120812318-chr5:120820921..120823113,2	K562	blood:
3	chr5:120816268..120817790-chr5:120825536..120828254,2	K562	blood:
4	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:
5	chr5:120873429..120875886-chr5:120876778..120878450,2	K562	blood:
6	chr5:120753180..120754863-chr5:120756669..120758697,2	K562	blood:
7	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:
8	chr5:120816268..120817790-chr5:120825536..120828254,2	K562	blood:

No data

Extended variants
information (count: 1406 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6882369	chr5:120758647-120758648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191431973	chr5:120758651-120758652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535645371	chr5:120758652-120758653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553722311	chr5:120758679-120758680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572497595	chr5:120758719-120758720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34280807	chr5:120758755-120758756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546008826	chr5:120758765-120758766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557714358	chr5:120758766-120758767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142159114	chr5:120758772-120758773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543662541	chr5:120758806-120758807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183605243	chr5:120758807-120758808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79196726	chr5:120758842-120758843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529602176	chr5:120758845-120758846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541611342	chr5:120758847-120758848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375921655	chr5:120758855-120758856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552510205	chr5:120758860-120758861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61535498	chr5:120758871-120758872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114217256	chr5:120758885-120758886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10035119	chr5:120758900-120758901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570436448	chr5:120758909-120758910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200367686	chr5:120758918-120758919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187433634	chr5:120758943-120758944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371858928	chr5:120758950-120758951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546688490	chr5:120758962-120758963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148039812	chr5:120758983-120758984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568351813	chr5:120758986-120758987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535426842	chr5:120759038-120759039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547546236	chr5:120759060-120759061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565769458	chr5:120759073-120759074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545400678	chr5:120759075-120759076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114541329	chr5:120759088-120759089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151226684	chr5:120759116-120759117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193270724	chr5:120759117-120759118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140351737	chr5:120759172-120759173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150299201	chr5:120759182-120759183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185448087	chr5:120759219-120759220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541397363	chr5:120759226-120759227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557278258	chr5:120759262-120759263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559865345	chr5:120759270-120759271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578128329	chr5:120759291-120759292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369149015	chr5:120759297-120759298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563436002	chr5:120759330-120759331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545870555	chr5:120759373-120759374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190352336	chr5:120759428-120759429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368953613	chr5:120759452-120759453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141955003	chr5:120759494-120759495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145896341	chr5:120759528-120759529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113494350	chr5:120759577-120759578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115755794	chr5:120759599-120759600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62380534	chr5:120759645-120759646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120758600-120758800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120758800-120760800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:120760800-120761200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:120765200-120766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:120766200-120766800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:120766400-120766600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:120778800-120781200	Enhancers	Dnd41	blood
8	chr5:120794600-120794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:120794800-120796800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:120796800-120797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:120797000-120797600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:120797600-120799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:120811600-120812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:120812000-120813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:120813000-120814000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:120813000-120815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:120813200-120814400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:120813400-120813800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:120813400-120814200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:120813400-120815600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:120813600-120815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:120813600-120815800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:120813800-120814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:120814000-120814200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:120814200-120814400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:120814200-120814600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:120814400-120814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:120814400-120814800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:120814400-120815000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:120814600-120814800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr5:120814600-120815000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:120814600-120815400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:120814800-120815400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:120814800-120815800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:120815000-120815200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:120815000-120816000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:120815600-120816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:120816000-120818000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:120816600-120816800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:120818000-120818400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:120823800-120825400	Enhancers	Dnd41	blood
42	chr5:120825400-120825800	Flanking Active TSS	Dnd41	blood
43	chr5:120825800-120827200	Enhancers	Dnd41	blood
44	chr5:120832600-120833000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:120832600-120833000	Enhancers	Fetal Heart	heart
46	chr5:120832800-120833200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:120833000-120833200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:120833200-120835600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:120833400-120835800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:120835600-120836000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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