Variant report

Variant	nsv1023588
Chromosome Location	chr5:154415586-154464455
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154429919..154432723-chr5:154442977..154446044,3	K562	blood:
2	chr5:154429919..154432723-chr5:154442977..154446044,3	K562	blood:
3	chr5:154351805..154352512-chr5:154429285..154430110,2	MCF-7	breast:
4	chr5:154447998..154448799-chr5:167743429..167744010,2	MCF-7	breast:
5	chr5:154436261..154438740-chr5:154452918..154455048,2	K562	blood:
6	chr5:154446911..154448825-chr5:154517075..154518990,2	MCF-7	breast:
7	chr5:154429416..154431999-chr5:154443611..154445119,2	MCF-7	breast:
8	chr5:154387175..154388944-chr5:154456600..154458958,2	K562	blood:
9	chr5:154448102..154448883-chr5:154833109..154833634,2	MCF-7	breast:
10	chr5:154448105..154448605-chr5:154667318..154668192,2	MCF-7	breast:
11	chr5:154429416..154431999-chr5:154443611..154445119,2	MCF-7	breast:
12	chr5:154436261..154438740-chr5:154452918..154455048,2	K562	blood:
13	chr5:154448102..154448883-chr5:154833109..154834055,3	MCF-7	breast:
14	chr5:154062466..154064358-chr5:154453743..154456113,2	K562	blood:
15	chr5:154403482..154404265-chr5:154448109..154448989,2	MCF-7	breast:
16	chr5:154022139..154022699-chr5:154429086..154429625,2	K562	blood:
17	chr5:154439874..154442833-chr5:154448919..154451553,2	K562	blood:
18	chr10:30023889..30025651-chr5:154448338..154449997,2	MCF-7	breast:
19	chr5:154460850..154462591-chr5:154465930..154468582,2	MCF-7	breast:
20	chr5:154439874..154442833-chr5:154448919..154451553,2	K562	blood:
21	chr5:154461655..154463919-chr5:154465276..154468165,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197321	chromatin interactions
ENSG00000113645	chromatin interactions

Extended variants
information (count: 1388 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1388 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191337531	chr5:154415595-154415596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143170533	chr5:154415646-154415647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184335730	chr5:154415657-154415658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566032498	chr5:154415658-154415659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74999738	chr5:154415668-154415669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374829300	chr5:154415673-154415674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189527208	chr5:154415707-154415708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113549683	chr5:154415728-154415729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182006120	chr5:154415730-154415731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571834932	chr5:154415809-154415810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537774782	chr5:154415823-154415824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71597677	chr5:154415833-154415834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557664791	chr5:154415847-154415848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186539400	chr5:154415862-154415863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560346008	chr5:154415863-154415864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190716750	chr5:154415885-154415886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34296533	chr5:154415907-154415908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397732003	chr5:154415915-154415916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181764767	chr5:154415942-154415943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572046549	chr5:154415998-154415999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199739184	chr5:154416005-154416006	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541095011	chr5:154416012-154416013	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564144819	chr5:154416078-154416079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532947454	chr5:154416094-154416095	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138216364	chr5:154416130-154416131	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115912571	chr5:154416131-154416132	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186186669	chr5:154416140-154416141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111945773	chr5:154416157-154416158	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7734178	chr5:154416186-154416187	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182183404	chr5:154416187-154416188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528593117	chr5:154416190-154416191	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551836177	chr5:154416270-154416271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549805505	chr5:154416280-154416281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186602726	chr5:154416293-154416294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188256	chr5:154416309-154416310	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551334814	chr5:154416313-154416314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs376513961	chr5:154416331-154416332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs567967317	chr5:154416336-154416337	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536901267	chr5:154416340-154416341	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555088347	chr5:154416344-154416345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374375056	chr5:154416354-154416355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191003151	chr5:154416391-154416392	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534456928	chr5:154416399-154416400	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557412438	chr5:154416410-154416411	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529532776	chr5:154416433-154416434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577463782	chr5:154416439-154416440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543203934	chr5:154416443-154416444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183762091	chr5:154416463-154416464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188244451	chr5:154416486-154416487	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542872997	chr5:154416509-154416510	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154415000-154416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:154416000-154416800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:154416800-154417600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:154417600-154419200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:154419200-154419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:154419600-154420200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:154420200-154420600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:154420200-154421200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:154420200-154422600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:154420600-154421200	Enhancers	HMEC	breast
11	chr5:154420600-154421200	Enhancers	HUVEC	blood vessel
12	chr5:154420600-154421200	Enhancers	NHEK	skin
13	chr5:154422600-154424200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:154422800-154423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:154422800-154426600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:154423600-154423800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:154423600-154423800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:154423800-154424800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:154423800-154424800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:154424200-154425000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:154424400-154427000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:154424400-154427000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:154424800-154426200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:154424800-154426600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:154424800-154426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:154425000-154425200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:154425000-154426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:154425000-154427400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:154425200-154425800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:154425400-154426200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:154425800-154426000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:154425800-154426000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:154426000-154426800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:154426000-154427800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:154426000-154428600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:154426000-154429800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:154426200-154426600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:154426200-154426800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:154426200-154428800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:154426400-154427200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:154426600-154428400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:154426600-154429200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:154426600-154429200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:154426600-154433000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:154426800-154427000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:154426800-154428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:154427000-154428600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:154427000-154428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:154427000-154428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:154427200-154427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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