Variant report

Variant	nsv999660
Chromosome Location	chr4:93982635-94107714
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:94011050..94013417-chr4:94016647..94018231,2	MCF-7	breast:
2	chr4:94003469..94006047-chr4:94006139..94009104,2	K562	blood:
3	chr4:94040244..94043067-chr4:94045485..94048074,2	K562	blood:
4	chr4:94103224..94106173-chr4:94109926..94112248,2	MCF-7	breast:
5	chr4:94078497..94079606-chr4:94120498..94121581,4	MCF-7	breast:
6	chr4:94078923..94080034-chr4:94120388..94121356,11	MCF-7	breast:
7	chr4:94030168..94030688-chr7:58043283..58043804,2	MCF-7	breast:
8	chr4:94003469..94006047-chr4:94006139..94009104,2	K562	blood:
9	chr4:94011050..94013417-chr4:94016647..94018231,2	MCF-7	breast:
10	chr4:94040244..94043067-chr4:94045485..94048074,2	K562	blood:

No data

Extended variants
information (count: 4198 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4198 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538663403	chr4:93982645-93982646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376328280	chr4:93982764-93982765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558579833	chr4:93982770-93982771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182076178	chr4:93982898-93982899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535342724	chr4:93982946-93982947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372840593	chr4:93982953-93982954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555217843	chr4:93982960-93982961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574951459	chr4:93983007-93983008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543981825	chr4:93983032-93983033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557202643	chr4:93983063-93983064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17020140	chr4:93983078-93983079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527341791	chr4:93983085-93983086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201230524	chr4:93983140-93983141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559330531	chr4:93983212-93983213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186668316	chr4:93983237-93983238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72885767	chr4:93983254-93983255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561199296	chr4:93983374-93983375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529880205	chr4:93983393-93983394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528397632	chr4:93983414-93983415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193252435	chr4:93983517-93983518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532256599	chr4:93983519-93983520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552256786	chr4:93983524-93983525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565702221	chr4:93983526-93983527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139456009	chr4:93983546-93983547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141653719	chr4:93983566-93983567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185722650	chr4:93983569-93983570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548954805	chr4:93983628-93983629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537293848	chr4:93983643-93983644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557521786	chr4:93983650-93983651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188609347	chr4:93983652-93983653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545895467	chr4:93983727-93983728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34106463	chr4:93983743-93983744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553020846	chr4:93983849-93983850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112433521	chr4:93983867-93983868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542188940	chr4:93983910-93983911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72885769	chr4:93983976-93983977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540258819	chr4:93984043-93984044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574670045	chr4:93984088-93984089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543314951	chr4:93984111-93984112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563479568	chr4:93984154-93984155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6829572	chr4:93984155-93984156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150534157	chr4:93984164-93984165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368753953	chr4:93984193-93984194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371496985	chr4:93984209-93984210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532411766	chr4:93984222-93984223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538116703	chr4:93984281-93984282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192963704	chr4:93984285-93984286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548165600	chr4:93984310-93984311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139536147	chr4:93984386-93984387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537758100	chr4:93984432-93984433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93974400-93988000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:93977400-93982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:93980400-93982800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:93982600-93983000	Enhancers	Fetal Intestine Small	intestine
5	chr4:93982600-93983200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:93982800-93983000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:93982800-93983200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:93982800-93983200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:93983200-93986800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:93985400-93985600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:93985600-93985800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:93986800-93987200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:93987200-93992200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:93987800-93988400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:93987800-93988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:93987800-93988600	Enhancers	NHEK	skin
17	chr4:93988000-93988400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:93988000-93988400	Enhancers	HMEC	breast
19	chr4:93988200-93988400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:93988400-94002000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:93990800-93991400	Enhancers	Fetal Intestine Small	intestine
22	chr4:93992200-93992400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:93995000-93995200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:93996200-93996800	Enhancers	Fetal Intestine Small	intestine
25	chr4:93999400-94005800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:94002000-94002200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:94002200-94006000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:94002800-94003600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:94003000-94003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:94003200-94003400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:94003200-94003600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:94003400-94003600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:94003400-94005600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:94003600-94005400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:94004400-94004600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:94004600-94006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:94004800-94005600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:94005200-94006200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:94005400-94005600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:94005400-94005800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:94005400-94006400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:94005600-94005800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:94005600-94006800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:94005800-94006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:94005800-94006200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:94005800-94006200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:94005800-94006400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:94005800-94006400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr4:94006000-94006400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:94006000-94006600	Enhancers	H1 Cell Line	embryonic stem cell

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