Variant report

Variant	nsv1032789
Chromosome Location	chr5:100885598-100942410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:223)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:100896799-100896939	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr5:100896815-100896969	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr5:100896827-100896983	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr5:100926215-100926259	GM12878	blood:	n/a	n/a
5	CEBPB	chr5:100932740-100932847	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr5:100897151-100897240	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr5:100896895-100896962	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr5:100926200-100926350	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr5:100926180-100926330	SAEC	small airway:	n/a	n/a
10	CTCF	chr5:100926240-100926390	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr5:100926200-100926350	BJ	skin:	n/a	n/a
12	CTCF	chr5:100926231-100926342	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:100926260-100926410	GM12801	blood:	n/a	n/a
14	CTCF	chr5:100926220-100926370	AG10803	skin:	n/a	n/a
15	CTCF	chr5:100926180-100926330	GM12873	blood:	n/a	n/a
16	CTCF	chr5:100926199-100926361	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:100926209-100926388	HepG2	liver:	n/a	n/a
18	CTCF	chr5:100926180-100926330	GM12872	blood:	n/a	n/a
19	CTCF	chr5:100926220-100926370	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr5:100926220-100926370	HFF	foreskin:	n/a	n/a
21	CTCF	chr5:100926200-100926350	MCF-7	breast:	n/a	n/a
22	CTCF	chr5:100926160-100926310	A549	lung:	n/a	n/a
23	CTCF	chr5:100926260-100926410	GM12867	blood:	n/a	n/a
24	CTCF	chr5:100926220-100926370	GM12878	blood:	n/a	n/a
25	CTCF	chr5:100926240-100926390	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr5:100926180-100926330	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr5:100926182-100926416	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:100926180-100926330	GM12864	blood:	n/a	n/a
29	CTCF	chr5:100926220-100926370	NHEK	skin:	n/a	n/a
30	CTCF	chr5:100926260-100926410	HCT-116	colon:	n/a	n/a
31	CTCF	chr5:100926387-100926388	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr5:100926180-100926330	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr5:100926200-100926371	GM19238	blood:	n/a	n/a
34	CTCF	chr5:100926260-100926410	BE2_C	brain:	n/a	n/a
35	CTCF	chr5:100926280-100926430	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr5:100926225-100926363	Fibrobl	skin:	n/a	n/a
37	CTCF	chr5:100926207-100926377	A549	lung:	n/a	n/a
38	CTCF	chr5:100926222-100926400	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr5:100926180-100926330	GM12869	blood:	n/a	n/a
40	CTCF	chr5:100926240-100926390	HVMF	connective:	n/a	n/a
41	CTCF	chr5:100926240-100926390	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr5:100926240-100926390	GM12864	blood:	n/a	n/a
43	CTCF	chr5:100926209-100926385	GM13977	blood:	n/a	n/a
44	CTCF	chr5:100926249-100926375	K562	blood:	n/a	n/a
45	CTCF	chr5:100926220-100926370	BE2_C	brain:	n/a	n/a
46	CTCF	chr5:100926280-100926430	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr5:100926160-100926310	GM12870	blood:	n/a	n/a
48	CTCF	chr5:100926205-100926409	GM12878	blood:	n/a	n/a
49	CTCF	chr5:100926198-100926361	A549	lung:	n/a	n/a
50	CTCF	chr5:100926280-100926430	NHDF-neo	bronchial:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:100908482..100910144-chr5:100911791..100914449,2	K562	blood:
2	chr5:100926018..100926756-chr5:101014023..101014890,2	MCF-7	breast:
3	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
4	chr5:100908482..100910144-chr5:100911791..100914449,2	K562	blood:
5	chr5:100914464..100915968-chr5:100918022..100919675,2	MCF-7	breast:
6	chr5:100914464..100915968-chr5:100918022..100919675,2	MCF-7	breast:
7	chr5:100918842..100921678-chr5:100924910..100926866,2	K562	blood:
8	chr5:100918842..100921678-chr5:100924910..100926866,2	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: 248 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538429068	chr5:100896425-100896426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556764225	chr5:100896477-100896478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536595128	chr5:100896498-100896499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371454055	chr5:100896553-100896554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144493140	chr5:100896579-100896580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558664171	chr5:100896628-100896629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146556202	chr5:100896657-100896658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373769790	chr5:100896732-100896733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540238295	chr5:100896758-100896759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10040426	chr5:100896781-100896782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182509647	chr5:100896814-100896815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545601118	chr5:100896823-100896824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563910878	chr5:100896833-100896834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531224925	chr5:100896853-100896854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541254564	chr5:100896879-100896880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542914472	chr5:100896888-100896889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568671144	chr5:100897016-100897017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113221296	chr5:100897028-100897029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397998863	chr5:100897036-100897037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371417557	chr5:100897037-100897038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528449742	chr5:100897084-100897085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73780345	chr5:100897145-100897146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531992604	chr5:100897191-100897192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565024450	chr5:100897330-100897331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532511868	chr5:100897363-100897364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367686782	chr5:100897378-100897379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550358375	chr5:100897382-100897383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117097107	chr5:100897406-100897407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536050865	chr5:100897445-100897446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548149857	chr5:100897448-100897449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566779657	chr5:100897460-100897461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574654625	chr5:100897502-100897503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533531433	chr5:100897543-100897544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558555335	chr5:100897557-100897558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187101187	chr5:100897560-100897561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114293186	chr5:100897592-100897593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190708131	chr5:100897595-100897596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575876375	chr5:100897663-100897664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563532303	chr5:100897709-100897710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575599727	chr5:100897762-100897763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543229860	chr5:100897773-100897774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57706967	chr5:100897795-100897796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141192827	chr5:100897828-100897829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540256906	chr5:100897845-100897846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528206386	chr5:100897920-100897921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182667292	chr5:100897960-100897961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200106983	chr5:100898014-100898015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57313564	chr5:100898028-100898029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs17137203	chr5:100898078-100898079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115713198	chr5:100898119-100898120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100896400-100897400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:100896600-100897600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:100897000-100897600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:100897200-100897600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:100897200-100898000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:100897600-100898600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:100898800-100899000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:100907200-100907400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:100908400-100909800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100920600-100922200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:100920800-100921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:100920800-100921600	Enhancers	Adipose Nuclei	Adipose
13	chr5:100932600-100933000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:100932600-100933200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:100932600-100933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:100941400-100941800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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