Variant report

Variant	nsv599187
Chromosome Location	chr5:101331313-101439670
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:101277581..101278499-chr5:101426192..101427059,2	MCF-7	breast:
2	chr5:100977296..100978177-chr5:101426469..101427113,2	MCF-7	breast:
3	chr5:101326987..101328842-chr5:101335717..101338180,2	MCF-7	breast:
4	chr5:101312840..101313801-chr5:101426237..101427126,3	MCF-7	breast:
5	chr5:101341869..101344693-chr5:101345059..101347272,2	MCF-7	breast:
6	chr5:101341869..101344693-chr5:101345059..101347272,2	MCF-7	breast:
7	chr17:27716905..27717691-chr5:101351042..101351795,2	MCF-7	breast:
8	chr5:101435579..101437280-chr5:101437849..101439350,2	MCF-7	breast:
9	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:
10	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:
11	chr5:101435579..101437280-chr5:101437849..101439350,2	MCF-7	breast:
12	chr5:101277703..101278961-chr5:101426537..101427100,3	MCF-7	breast:
13	chr5:101432287..101434879-chr5:101435908..101438270,2	K562	blood:
14	chr5:101432287..101434879-chr5:101435908..101438270,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263719	chromatin interactions
ENSG00000160551	chromatin interactions

Extended variants
information (count: 1640 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1640 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1381976	chr5:101331313-101331314	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs367807156	chr5:101331320-101331321	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371337246	chr5:101331321-101331322	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545989671	chr5:101331340-101331341	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs6149150	chr5:101331346-101331347	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564241414	chr5:101331360-101331361	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372326841	chr5:101331362-101331363	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531659034	chr5:101331383-101331384	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550075629	chr5:101331388-101331389	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147489873	chr5:101331443-101331444	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148522483	chr5:101331499-101331500	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1155174	chr5:101331519-101331520	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550480331	chr5:101331524-101331525	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544126720	chr5:101331535-101331536	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs72774338	chr5:101331557-101331558	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116701429	chr5:101331601-101331602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182641384	chr5:101331620-101331621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558744003	chr5:101331647-101331648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542118363	chr5:101331688-101331689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570685110	chr5:101331696-101331697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4515271	chr5:101331699-101331700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538175595	chr5:101331718-101331719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556424774	chr5:101331728-101331729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142172498	chr5:101331755-101331756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542209338	chr5:101331767-101331768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77706124	chr5:101331826-101331827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115319943	chr5:101331832-101331833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533606632	chr5:101331843-101331844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17144948	chr5:101331918-101331919	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531515277	chr5:101332002-101332003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150781877	chr5:101332093-101332094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150220199	chr5:101332098-101332099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115472350	chr5:101332166-101332167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537779982	chr5:101332167-101332168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529130944	chr5:101332184-101332185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547381477	chr5:101332187-101332188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199522660	chr5:101332197-101332198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556184567	chr5:101332230-101332231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565507292	chr5:101332257-101332258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563842431	chr5:101332280-101332281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13189343	chr5:101332299-101332300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1477623	chr5:101332324-101332325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs56773431	chr5:101332360-101332361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538045793	chr5:101332362-101332363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556291484	chr5:101332473-101332474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571864443	chr5:101332498-101332499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568744495	chr5:101332502-101332503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201270533	chr5:101332503-101332504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113245133	chr5:101332530-101332531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187599700	chr5:101332591-101332592	Enhancers Weak transcription	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
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101329800-101332800	Enhancers	Fetal Intestine Small	intestine
2	chr5:101330800-101331400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr5:101330800-101331600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:101330800-101333200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:101331000-101332600	Weak transcription	Psoas Muscle	Psoas
6	chr5:101331200-101331600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr5:101331200-101331800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:101331400-101332200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:101331400-101332600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:101331600-101331800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:101332600-101332800	Active TSS	Psoas Muscle	Psoas
12	chr5:101343400-101344800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:101343600-101344600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:101354000-101354800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:101354000-101355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:101354200-101354400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:101354200-101354800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:101354200-101354800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:101354400-101354600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:101354400-101355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:101354600-101354800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:101354600-101355000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:101354600-101355200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:101354800-101355800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:101366600-101367200	Enhancers	Fetal Intestine Large	intestine
26	chr5:101367200-101367600	Weak transcription	Fetal Intestine Large	intestine
27	chr5:101367600-101368000	Enhancers	Fetal Intestine Large	intestine
28	chr5:101372200-101373200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:101372200-101373600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:101372400-101373000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:101372600-101373000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:101372600-101373000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:101372600-101373000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:101372600-101373000	Enhancers	Adipose Nuclei	Adipose
35	chr5:101372600-101373000	Enhancers	Fetal Lung	lung
36	chr5:101373000-101373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:101373000-101375600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:101373000-101375800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:101373200-101376000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:101373400-101373600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:101373600-101375800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:101375600-101376000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:101375600-101376400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:101375600-101376600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:101375800-101376600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:101375800-101376600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr5:101376000-101376400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:101376000-101376400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr5:101376000-101376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:101376000-101376400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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