Variant report

Variant	nsv882494
Chromosome Location	chr5:100798650-100971002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:386)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:100854487-100854728	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:100896799-100896939	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr5:100896827-100896983	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr5:100896815-100896969	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr5:100926215-100926259	GM12878	blood:	n/a	n/a
6	CBX3	chr5:100848788-100848982	K562	blood:	n/a	n/a
7	CEBPB	chr5:100811143-100811402	HepG2	liver:	n/a	chr5:100811277-100811288
8	CEBPB	chr5:100897151-100897240	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr5:100858879-100859188	HepG2	liver:	n/a	n/a
10	CEBPB	chr5:100932740-100932847	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr5:100896895-100896962	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr5:100963588-100963764	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:100926224-100926350	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr5:100926108-100926482	GM12878	blood:	n/a	n/a
15	CTCF	chr5:100926240-100926390	AG10803	skin:	n/a	n/a
16	CTCF	chr5:100926180-100926330	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr5:100926203-100926379	ProgFib	skin:	n/a	n/a
18	CTCF	chr5:100926205-100926409	GM12878	blood:	n/a	n/a
19	CTCF	chr5:100926020-100926589	HCT-116	colon:	n/a	n/a
20	CTCF	chr5:100926220-100926370	HMF	breast:	n/a	n/a
21	CTCF	chr5:100926252-100926383	GM10248	blood:	n/a	n/a
22	CTCF	chr5:100926214-100926378	Medullo	brain:	n/a	n/a
23	CTCF	chr5:100926220-100926370	BE2_C	brain:	n/a	n/a
24	CTCF	chr5:100870560-100870710	BE2_C	brain:	n/a	n/a
25	CTCF	chr5:100926200-100926350	AG04450	lung:	n/a	n/a
26	CTCF	chr5:100926240-100926390	GM12875	blood:	n/a	n/a
27	CTCF	chr5:100870520-100870670	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr5:100926220-100926370	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr5:100937235-100937270	Lung_OC	lung:	n/a	n/a
30	CTCF	chr5:100926200-100926350	HepG2	liver:	n/a	n/a
31	CTCF	chr5:100838417-100838455	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr5:100926220-100926370	AG09319	gingival:	n/a	n/a
33	CTCF	chr5:100926300-100926450	HL-60	blood:	n/a	n/a
34	CTCF	chr5:100926240-100926390	HepG2	liver:	n/a	n/a
35	CTCF	chr5:100926387-100926388	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr5:100926180-100926330	SAEC	small airway:	n/a	n/a
37	CTCF	chr5:100926220-100926370	GM12874	blood:	n/a	n/a
38	CTCF	chr5:100926240-100926390	AG09319	gingival:	n/a	n/a
39	CTCF	chr5:100926240-100926390	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr5:100926225-100926363	Fibrobl	skin:	n/a	n/a
41	CTCF	chr5:100926160-100926310	A549	lung:	n/a	n/a
42	CTCF	chr5:100926220-100926370	GM12871	blood:	n/a	n/a
43	CTCF	chr5:100926240-100926390	HVMF	connective:	n/a	n/a
44	CTCF	chr5:100926220-100926370	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr5:100926180-100926330	GM12869	blood:	n/a	n/a
46	CTCF	chr5:100926240-100926390	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr5:100926200-100926348	Lung_OC	lung:	n/a	n/a
48	CTCF	chr5:100926220-100926370	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr5:100838410-100838474	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:100926180-100926330	GM12864	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:100801149..100803807-chr5:101019076..101021697,2	K562	blood:
2	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:
3	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:
4	chr5:100908482..100910144-chr5:100911791..100914449,2	K562	blood:
5	chr5:100950934..100952627-chr5:101023886..101026706,2	K562	blood:
6	chr5:100914464..100915968-chr5:100918022..100919675,2	MCF-7	breast:
7	chr5:100918842..100921678-chr5:100924910..100926866,2	K562	blood:
8	chr5:100914464..100915968-chr5:100918022..100919675,2	MCF-7	breast:
9	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:
10	chr5:100855750..100857739-chr5:100867782..100869790,2	MCF-7	breast:
11	chr5:100926018..100926756-chr5:101014023..101014890,2	MCF-7	breast:
12	chr5:100855750..100857739-chr5:100867782..100869790,2	MCF-7	breast:
13	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:
14	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
15	chr5:100918842..100921678-chr5:100924910..100926866,2	K562	blood:
16	chr5:100908482..100910144-chr5:100911791..100914449,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-5	chr5:100917534-100917830	NONHSAT103016

No data

Variant related genes	Relation type
RN7SL802P	TF binding region

Extended variants
information (count: 1607 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1607 , 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	rs75815498	chr5:100800902-100800903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146898754	chr5:100800953-100800954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59451595	chr5:100801006-100801007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs463792	chr5:100801032-100801033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528349633	chr5:100801039-100801040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139387379	chr5:100801043-100801044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190696821	chr5:100801045-100801046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79008386	chr5:100801061-100801062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs66734336	chr5:100801130-100801131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386690538	chr5:100801135-100801136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369043855	chr5:100801136-100801137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555073881	chr5:100801150-100801151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181118669	chr5:100801171-100801172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535609474	chr5:100801209-100801210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554083405	chr5:100801270-100801271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60569605	chr5:100801285-100801286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7720007	chr5:100801295-100801296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142992261	chr5:100801333-100801334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201639988	chr5:100801343-100801344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34483884	chr5:100801344-100801345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79867144	chr5:100801520-100801521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543853251	chr5:100801524-100801525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369503531	chr5:100801543-100801544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562136134	chr5:100801563-100801564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529410083	chr5:100801574-100801575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185717256	chr5:100801603-100801604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1602425	chr5:100801608-100801609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147469537	chr5:100801630-100801631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58103181	chr5:100801697-100801698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397977236	chr5:100801699-100801700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551412719	chr5:100801707-100801708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs412159	chr5:100801719-100801720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369366	chr5:100801730-100801731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548573927	chr5:100801762-100801763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs453785	chr5:100801768-100801769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534462411	chr5:100801791-100801792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554341958	chr5:100801869-100801870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566171896	chr5:100801878-100801879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114494794	chr5:100801895-100801896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531728722	chr5:100801935-100801936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558132757	chr5:100801955-100801956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191020414	chr5:100801991-100801992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182735209	chr5:100802020-100802021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28828992	chr5:100802069-100802070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558262904	chr5:100802102-100802103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148311291	chr5:100802106-100802107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549845517	chr5:100802153-100802154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574170902	chr5:100802184-100802185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541212183	chr5:100802261-100802262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559475472	chr5:100802287-100802288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100800800-100803600	Weak transcription	Small Intestine	intestine
2	chr5:100809200-100809400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:100809200-100809600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:100810000-100810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:100810000-100810600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:100810000-100810600	Enhancers	HMEC	breast
7	chr5:100817800-100818400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:100818200-100818800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:100818200-100818800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:100818200-100819200	Enhancers	Dnd41	blood
11	chr5:100818400-100819200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:100840800-100842200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:100841000-100842200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:100841000-100842200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:100847400-100847800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:100848600-100848800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
17	chr5:100848600-100848800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:100852600-100854400	Enhancers	Dnd41	blood
19	chr5:100856000-100856400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:100868400-100868600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:100868600-100870400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:100869600-100870000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:100870400-100870600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:100870400-100870800	Enhancers	Fetal Stomach	stomach
25	chr5:100870400-100871600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:100871000-100872000	Enhancers	NHDF-Ad	bronchial
27	chr5:100872000-100879000	Weak transcription	NHDF-Ad	bronchial
28	chr5:100873400-100873600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:100878800-100879600	Enhancers	A549	lung
30	chr5:100879000-100879600	Enhancers	NHDF-Ad	bronchial
31	chr5:100879000-100880000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:100879400-100880000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:100896400-100897400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:100896600-100897600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:100897000-100897600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:100897200-100897600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:100897200-100898000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:100897600-100898600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:100898800-100899000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:100907200-100907400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:100908400-100909800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:100920600-100922200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:100920800-100921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:100920800-100921600	Enhancers	Adipose Nuclei	Adipose
45	chr5:100932600-100933000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:100932600-100933200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:100932600-100933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:100941400-100941800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:100943400-100944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:100943600-100944800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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