Variant report

Variant	nsv830050
Chromosome Location	chr4:125717858-125888563
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
2	chr4:125878708..125881859-chr4:125882338..125884780,4	MCF-7	breast:
3	chr4:125866968..125869585-chr4:125874364..125876990,2	MCF-7	breast:
4	chr4:125883788..125886065-chr4:126011029..126013746,2	MCF-7	breast:
5	chr4:125764608..125767385-chr4:125861503..125863790,2	MCF-7	breast:
6	chr4:125631616..125633726-chr4:125883727..125886839,4	MCF-7	breast:
7	chr4:125782896..125785311-chr4:125806709..125809197,2	MCF-7	breast:
8	chr4:125866462..125869040-chr4:125880011..125881725,2	MCF-7	breast:
9	chr4:125779728..125782260-chr4:125791975..125794101,2	MCF-7	breast:
10	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
11	chr4:125764608..125767385-chr4:125861503..125863790,2	MCF-7	breast:
12	chr4:125632410..125634285-chr4:125873983..125875595,2	MCF-7	breast:
13	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
14	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
15	chr4:125633372..125635568-chr4:125854459..125856235,2	MCF-7	breast:
16	chr4:125633862..125636702-chr4:125883831..125887270,3	MCF-7	breast:
17	chr4:125632730..125635851-chr4:125862256..125864898,4	MCF-7	breast:
18	chr4:125882105..125884448-chr4:125895502..125897123,2	MCF-7	breast:
19	chr4:125702474..125705309-chr4:125716481..125718670,2	K562	blood:
20	chr4:125633390..125635842-chr4:125801059..125802872,2	MCF-7	breast:
21	chr4:125782896..125785311-chr4:125806709..125809197,2	MCF-7	breast:
22	chr4:125632635..125634517-chr4:125770420..125772413,3	MCF-7	breast:
23	chr4:125633614..125636587-chr4:125806033..125809617,4	MCF-7	breast:
24	chr4:125631407..125634222-chr4:125882635..125885809,4	MCF-7	breast:
25	chr4:125879691..125882061-chr4:125882934..125885892,2	MCF-7	breast:
26	chr4:125879691..125882061-chr4:125882934..125885892,2	MCF-7	breast:
27	chr4:125857080..125860001-chr4:125867292..125869846,2	MCF-7	breast:
28	chr4:125883634..125885656-chr4:125893409..125896639,3	MCF-7	breast:
29	chr4:125632317..125635750-chr4:125823538..125828224,6	MCF-7	breast:
30	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
31	chr4:125639869..125641790-chr4:125860741..125863223,2	MCF-7	breast:
32	chr4:125857080..125860001-chr4:125867292..125869846,2	MCF-7	breast:
33	chr4:125741503..125743157-chr4:125746025..125748000,2	K562	blood:
34	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
35	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
36	chr4:125741503..125743157-chr4:125746025..125748000,2	K562	blood:
37	chr4:125878708..125881859-chr4:125882338..125884780,4	MCF-7	breast:
38	chr4:125887745..125891484-chr4:125891733..125896629,5	MCF-7	breast:
39	chr4:125632895..125634759-chr4:125807417..125811100,3	MCF-7	breast:
40	chr4:125875190..125876989-chr4:125883949..125885613,2	MCF-7	breast:
41	chr12:92539244..92540153-chr4:125785568..125786476,2	Hela-S3	cervix:
42	chr4:125766671..125769138-chr4:125772617..125775217,3	MCF-7	breast:
43	chr4:125866968..125869585-chr4:125874364..125876990,2	MCF-7	breast:
44	chr4:125632485..125635693-chr4:125853926..125858479,5	MCF-7	breast:
45	chr4:125884733..125886717-chr4:125893872..125895468,2	MCF-7	breast:
46	chr4:125866462..125869040-chr4:125880011..125881725,2	MCF-7	breast:
47	chr4:125779700..125781513-chr4:125782014..125784982,2	MCF-7	breast:
48	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
49	chr4:125808803..125809436-chr4:125885151..125885920,2	MCF-7	breast:
50	chr4:125875190..125876989-chr4:125883949..125885613,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133639	chromatin interactions
ENSG00000151458	chromatin interactions
ENSG00000245904	chromatin interactions

Extended variants
information (count: 6465 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:6465 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527979898	chr4:125717864-125717865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561567468	chr4:125717874-125717875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552850302	chr4:125717875-125717876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541326739	chr4:125717880-125717881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559375902	chr4:125717905-125717906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533409667	chr4:125717939-125717940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148562147	chr4:125717950-125717951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551461874	chr4:125717959-125717960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11098771	chr4:125717968-125717969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10857102	chr4:125717983-125717984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549455587	chr4:125718000-125718001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28683639	chr4:125718063-125718064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534898912	chr4:125718065-125718066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142474028	chr4:125718078-125718079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11098772	chr4:125718101-125718102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs151319477	chr4:125718119-125718120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140559654	chr4:125718135-125718136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115528175	chr4:125718172-125718173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138717541	chr4:125718228-125718229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536752622	chr4:125718232-125718233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370550333	chr4:125718233-125718234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76122586	chr4:125718234-125718235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555002612	chr4:125718250-125718251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145754176	chr4:125718283-125718284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181745126	chr4:125718369-125718370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559626528	chr4:125718386-125718387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186046957	chr4:125718425-125718426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541007263	chr4:125718438-125718439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79041068	chr4:125718579-125718580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191212270	chr4:125718634-125718635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200737690	chr4:125718643-125718644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557374906	chr4:125718697-125718698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114617398	chr4:125718733-125718734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181110750	chr4:125718738-125718739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186054124	chr4:125718761-125718762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528713700	chr4:125718799-125718800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35334778	chr4:125718851-125718852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546865358	chr4:125718878-125718879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571778727	chr4:125718899-125718900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376937519	chr4:125718919-125718920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538985943	chr4:125718963-125718964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575894389	chr4:125718965-125718966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188436050	chr4:125724026-125724027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72683843	chr4:125724071-125724072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556843594	chr4:125724093-125724094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6828645	chr4:125724160-125724161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs62322128	chr4:125724161-125724162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553330500	chr4:125724239-125724240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553159342	chr4:125724271-125724272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577985947	chr4:125724307-125724308	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125717400-125718600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:125718200-125718800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:125718600-125719000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:125724000-125726000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:125724000-125726400	Enhancers	NHEK	skin
6	chr4:125724200-125724600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:125724200-125726200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:125724600-125759600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:125724800-125725400	Enhancers	HUVEC	blood vessel
10	chr4:125725400-125725800	Enhancers	Osteobl	bone
11	chr4:125725800-125726200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:125725800-125726400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:125725800-125726600	Enhancers	Colon Smooth Muscle	Colon
14	chr4:125726000-125727200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:125726400-125726600	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:125726600-125731400	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:125726800-125731200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:125727200-125727800	Enhancers	Brain Germinal Matrix	brain
19	chr4:125727600-125727800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:125727600-125727800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:125728200-125729400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:125728400-125729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:125728600-125729400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:125728800-125729200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:125729000-125729600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:125729000-125731600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:125729200-125731800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:125729400-125729600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:125729400-125731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:125729400-125731600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:125729600-125730800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:125729600-125731800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:125730800-125731600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:125731200-125733000	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:125731400-125732200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:125731400-125732200	Enhancers	Colon Smooth Muscle	Colon
37	chr4:125731400-125732400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:125731600-125732600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:125731600-125732600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr4:125731600-125733400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:125731800-125732200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:125731800-125732800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:125732400-125732600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:125732600-125733600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr4:125733400-125733800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr4:125733800-125734600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:125739000-125739400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:125754400-125755000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:125755200-125763000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:125755400-125755600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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