Variant report

Variant	nsv599699
Chromosome Location	chr5:128172808-128259451
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:128240890..128241833-chr5:128471115..128471772,2	MCF-7	breast:
2	chr5:128237270..128240135-chr5:128244832..128246396,2	MCF-7	breast:
3	chr5:128236339..128240186-chr5:128240250..128243674,3	MCF-7	breast:
4	chr5:128240839..128241886-chr5:128429456..128430395,4	MCF-7	breast:
5	chr5:127833988..127834810-chr5:128179744..128180636,2	MCF-7	breast:
6	chr5:128240110..128242632-chr5:128429217..128432006,5	MCF-7	breast:
7	chr5:128240931..128241657-chr5:128461887..128462572,2	MCF-7	breast:
8	chr5:128240683..128241856-chr5:129103237..129104348,9	K562	blood:
9	chr5:128236339..128240186-chr5:128240250..128243674,3	MCF-7	breast:
10	chr5:128241322..128241829-chr5:128430596..128431143,2	MCF-7	breast:
11	chr5:128170003..128172178-chr5:128179112..128180892,2	K562	blood:
12	chr5:128237270..128240135-chr5:128244832..128246396,2	MCF-7	breast:
13	chr5:128232489..128236420-chr5:128429140..128432073,3	MCF-7	breast:
14	chr5:128239764..128242379-chr5:128428800..128431828,4	MCF-7	breast:
15	chr20:32399700..32400201-chr5:128222435..128222935,2	Hela-S3	cervix:
16	chr5:128241389..128241984-chr5:128470334..128471103,2	MCF-7	breast:
17	chr5:127549084..127549659-chr5:128177723..128178409,2	MCF-7	breast:
18	chr5:128165113..128167879-chr5:128172954..128174842,2	K562	blood:
19	chr5:128241087..128241855-chr5:128471030..128471838,2	K562	blood:
20	chr5:128240845..128241883-chr5:128470886..128471556,3	MCF-7	breast:
21	chr5:128189615..128191747-chr8:1711337..1714179,2	MCF-7	breast:
22	chr5:127548790..127549558-chr5:128180685..128181505,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253982	chromatin interactions
ENSG00000182372	chromatin interactions
ENSG00000066583	chromatin interactions

Extended variants
information (count: 2640 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2640 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2158175	chr5:128172808-128172809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549679766	chr5:128172844-128172845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2158174	chr5:128172850-128172851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535111302	chr5:128172867-128172868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146137107	chr5:128172925-128172926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370322501	chr5:128172926-128172927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182424703	chr5:128172989-128172990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561116546	chr5:128172992-128172993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535206946	chr5:128173091-128173092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558422639	chr5:128173147-128173148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532570224	chr5:128173171-128173172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185130718	chr5:128173237-128173238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190613464	chr5:128173317-128173318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184056773	chr5:128173334-128173335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17616087	chr5:128173339-128173340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78723366	chr5:128173372-128173373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188957214	chr5:128173431-128173432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559793373	chr5:128173457-128173458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528607362	chr5:128173527-128173528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79927752	chr5:128173551-128173552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147390615	chr5:128173582-128173583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532981896	chr5:128173612-128173613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549620383	chr5:128173652-128173653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569864064	chr5:128173656-128173657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201522907	chr5:128173774-128173775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528873741	chr5:128173782-128173783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192248982	chr5:128173794-128173795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548753018	chr5:128173820-128173821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139641586	chr5:128173903-128173904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111319629	chr5:128173938-128173939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141887569	chr5:128173939-128173940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551520208	chr5:128173946-128173947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571820617	chr5:128173951-128173952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376286270	chr5:128173958-128173959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537651446	chr5:128173981-128173982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557623714	chr5:128174029-128174030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574298083	chr5:128174075-128174076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113489962	chr5:128174118-128174119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553127830	chr5:128174122-128174123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572918501	chr5:128174148-128174149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528388824	chr5:128174225-128174226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552316170	chr5:128174265-128174266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565042740	chr5:128174363-128174364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145262961	chr5:128174383-128174384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112495099	chr5:128174435-128174436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543294631	chr5:128174491-128174492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147632057	chr5:128174510-128174511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529205470	chr5:128174523-128174524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549272380	chr5:128174589-128174590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139636674	chr5:128174610-128174611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128162200-128182800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:128172400-128173000	Enhancers	Fetal Heart	heart
3	chr5:128174400-128175000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:128178000-128178400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:128180400-128181200	Enhancers	Fetal Heart	heart
6	chr5:128190000-128190200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:128190200-128190600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:128190600-128191800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:128190800-128191000	Enhancers	Gastric	stomach
10	chr5:128191000-128194200	Enhancers	Fetal Heart	heart
11	chr5:128192000-128192200	Enhancers	Fetal Stomach	stomach
12	chr5:128192200-128192800	Weak transcription	Fetal Stomach	stomach
13	chr5:128192800-128193400	Enhancers	Fetal Stomach	stomach
14	chr5:128193400-128199800	Weak transcription	Fetal Stomach	stomach
15	chr5:128194200-128205600	Weak transcription	Fetal Heart	heart
16	chr5:128199800-128200000	Enhancers	Fetal Stomach	stomach
17	chr5:128204000-128204200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:128204400-128205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:128205000-128205200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:128205000-128205600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:128205000-128206800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:128205200-128207000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:128205200-128207200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:128205200-128208000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:128205200-128208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:128205400-128206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:128205400-128206800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:128205600-128205800	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:128205600-128206000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:128205600-128206000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:128205600-128206000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr5:128205600-128206000	Enhancers	Aorta	Aorta
33	chr5:128205600-128206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:128205600-128206200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:128205600-128206600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:128205600-128207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:128205600-128208400	Enhancers	Fetal Stomach	stomach
38	chr5:128205600-128210400	Enhancers	Fetal Heart	heart
39	chr5:128205800-128206000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr5:128205800-128206200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:128205800-128206600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:128205800-128206800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:128205800-128207200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:128206000-128206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:128206000-128207000	Enhancers	Colon Smooth Muscle	Colon
46	chr5:128206000-128207200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:128206200-128206800	Enhancers	Fetal Lung	lung
48	chr5:128206200-128212600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:128206400-128207400	Enhancers	Stomach Smooth Muscle	stomach
50	chr5:128206800-128207200	Enhancers	Rectal Smooth Muscle	rectum

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