Variant report

Variant	nsv593897
Chromosome Location	chr4:30083345-30321942
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	chr4:30108481..30110842-chr4:30143021..30145744,2	K562	blood:
2	chr4:30218713..30221733-chr5:137804285..137806893,7	K562	blood:
3	chr4:30172346..30174154-chr4:30175506..30177091,2	MCF-7	breast:
4	chr13:31770079..31770851-chr4:30205505..30206321,2	MCF-7	breast:
5	chr15:65596724..65597359-chr4:30184267..30184768,2	Hela-S3	cervix:
6	chr4:30248606..30251603-chr4:30254431..30256493,2	K562	blood:
7	chr4:30128238..30130674-chr4:30130839..30133717,2	MCF-7	breast:
8	chr4:30190158..30192190-chr4:30196821..30199577,2	MCF-7	breast:
9	chr4:30172346..30174154-chr4:30175506..30177091,2	MCF-7	breast:
10	chr4:30248606..30251603-chr4:30254431..30256493,2	K562	blood:
11	chr13:46714477..46715323-chr4:30113851..30114490,2	MCF-7	breast:
12	chr4:30190158..30192190-chr4:30196821..30199577,2	MCF-7	breast:
13	chr4:30108481..30110842-chr4:30143021..30145744,2	K562	blood:
14	chr4:30128238..30130674-chr4:30130839..30133717,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200156	chromatin interactions

Extended variants
information (count: 3658 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3658 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3857024	chr4:30083345-30083346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3857025	chr4:30083386-30083387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3913646	chr4:30083392-30083393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545852836	chr4:30083393-30083394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16882807	chr4:30083451-30083452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540300764	chr4:30083459-30083460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187693601	chr4:30083477-30083478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560838642	chr4:30083485-30083486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553006007	chr4:30083499-30083500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537447215	chr4:30083569-30083570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191320616	chr4:30083595-30083596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16882810	chr4:30083596-30083597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552107645	chr4:30085601-30085602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147423142	chr4:30085603-30085604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139767854	chr4:30085609-30085610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144982778	chr4:30085621-30085622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574175133	chr4:30085635-30085636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190196724	chr4:30085662-30085663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561500168	chr4:30085717-30085718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4616713	chr4:30085730-30085731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545636749	chr4:30085735-30085736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112557696	chr4:30085781-30085782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181341749	chr4:30085803-30085804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111929209	chr4:30085829-30085830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561395329	chr4:30085836-30085837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530201901	chr4:30085847-30085848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540282491	chr4:30085849-30085850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370044534	chr4:30085877-30085878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560509622	chr4:30085888-30085889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78207670	chr4:30085965-30085966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552403976	chr4:30085977-30085978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186859037	chr4:30086036-30086037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149687674	chr4:30086037-30086038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569044624	chr4:30086042-30086043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145532140	chr4:30086064-30086065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369452244	chr4:30086086-30086087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567831998	chr4:30086103-30086104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11931572	chr4:30086104-30086105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553492312	chr4:30086123-30086124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115876898	chr4:30086135-30086136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191592954	chr4:30086136-30086137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559249906	chr4:30086157-30086158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138419629	chr4:30086164-30086165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575985083	chr4:30086165-30086166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76797928	chr4:30086171-30086172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113377858	chr4:30086184-30086185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183899514	chr4:30086191-30086192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55772218	chr4:30086195-30086196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562873333	chr4:30086250-30086251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370487679	chr4:30086261-30086262	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30082800-30083600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:30085600-30086800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:30086000-30086600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:30086200-30086600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:30086200-30086600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:30093800-30094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:30094200-30094400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:30094200-30094800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:30094600-30095400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:30104000-30106000	Enhancers	HUVEC	blood vessel
11	chr4:30104400-30106000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:30104800-30106000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:30105200-30105600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:30105600-30117200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:30107000-30107400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr4:30107400-30107600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:30107600-30108000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:30117200-30118800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:30117400-30117800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:30117400-30118400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:30117600-30117800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:30118000-30118400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:30122800-30123000	Enhancers	Fetal Lung	lung
24	chr4:30123200-30124200	Weak transcription	Fetal Lung	lung
25	chr4:30124200-30125600	Enhancers	Fetal Lung	lung
26	chr4:30124800-30126400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:30125600-30126800	Weak transcription	Fetal Lung	lung
28	chr4:30126800-30127800	Enhancers	Fetal Lung	lung
29	chr4:30127800-30128200	Weak transcription	Fetal Lung	lung
30	chr4:30128200-30128800	Enhancers	Fetal Lung	lung
31	chr4:30145200-30146000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:30145200-30146200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:30146000-30147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:30146200-30150000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:30147000-30147200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr4:30149000-30153000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:30149200-30152200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:30149600-30149800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:30149800-30150800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:30150000-30150800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:30150000-30151600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:30150000-30152800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:30150200-30151200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:30150200-30153000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:30150800-30151600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:30150800-30151600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:30150800-30152200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:30151000-30152200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:30151200-30152800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:30151600-30151800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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