Variant report

Variant	nsv593616
Chromosome Location	chr4:7530451-7544879
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41624966..41625477-chr4:7539151..7539651,2	Hela-S3	cervix:
2	chr4:7513451..7515620-chr4:7531524..7533326,2	K562	blood:
3	chr4:7543788..7545988-chr4:7546899..7549006,2	K562	blood:
4	chr4:7529694..7531413-chr4:7534964..7537319,2	K562	blood:
5	chr4:7540632..7544452-chr4:7547712..7552910,6	MCF-7	breast:
6	chr4:7539171..7539671-chr6:30709977..30710667,2	Hela-S3	cervix:
7	chr4:7534680..7537272-chr4:7547399..7550073,2	MCF-7	breast:
8	chr4:7520525..7523407-chr4:7542100..7544094,2	K562	blood:
9	chr4:7535311..7535864-chr4:7556278..7556945,2	MCF-7	breast:
10	chr12:13044402..13044911-chr4:7539151..7539651,2	Hela-S3	cervix:
11	chr4:7529694..7531413-chr4:7534964..7537319,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000013588	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000137804	chromatin interactions

Extended variants
information (count: 776 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7669478	chr4:7530451-7530452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538486093	chr4:7530495-7530496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189228729	chr4:7530529-7530530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376105537	chr4:7530532-7530533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537009204	chr4:7530533-7530534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7664638	chr4:7530561-7530562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62280210	chr4:7530570-7530571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555082343	chr4:7530571-7530572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200591018	chr4:7530577-7530578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181705342	chr4:7530605-7530606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535970709	chr4:7530625-7530626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146468772	chr4:7530660-7530661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555293498	chr4:7530661-7530662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187575888	chr4:7530694-7530695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139156353	chr4:7530695-7530696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562425534	chr4:7530730-7530731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142967401	chr4:7530782-7530783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373734506	chr4:7530813-7530814	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs11940680	chr4:7530836-7530837	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560104570	chr4:7530838-7530839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs569463654	chr4:7530881-7530882	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs527745775	chr4:7530897-7530898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs190316458	chr4:7530932-7530933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs143644245	chr4:7530936-7530937	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs148095962	chr4:7530948-7530949	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs374174871	chr4:7530955-7530956	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs539642265	chr4:7530959-7530960	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs550236328	chr4:7530961-7530962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs79268095	chr4:7530990-7530991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs182240640	chr4:7531007-7531008	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs547979248	chr4:7531021-7531022	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs142004227	chr4:7531034-7531035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs60743096	chr4:7531090-7531091	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs140106385	chr4:7531098-7531099	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs142154608	chr4:7531102-7531103	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs537426207	chr4:7531136-7531137	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs555760597	chr4:7531148-7531149	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs577480249	chr4:7531149-7531150	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs185170531	chr4:7531177-7531178	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs386671246	chr4:7531185-7531186	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs4689776	chr4:7531186-7531187	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572146054	chr4:7531203-7531204	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs146457004	chr4:7531275-7531276	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs542848613	chr4:7531298-7531299	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs11931489	chr4:7531319-7531320	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs575747504	chr4:7531322-7531323	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs575167627	chr4:7531333-7531334	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs531872223	chr4:7531374-7531375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs550173352	chr4:7531375-7531376	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs78362996	chr4:7531394-7531395	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7528800-7532400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr4:7529400-7530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:7529400-7530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:7529400-7534400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:7529600-7530600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:7529600-7530800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:7529600-7531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:7529800-7530800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:7529800-7531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7530000-7530800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:7530000-7531000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:7530600-7532000	Enhancers	HepG2	liver
13	chr4:7530600-7532200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:7530800-7531000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:7530800-7531600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:7530800-7531800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:7530800-7531800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:7530800-7532200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr4:7530800-7534200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:7530800-7535600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:7531000-7531200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr4:7531000-7531200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr4:7531000-7531600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:7531000-7531600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:7531000-7532000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:7531000-7532200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:7531000-7532400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:7531000-7533200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:7531200-7531800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:7531200-7532000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:7531200-7532000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:7531200-7532000	Enhancers	Fetal Muscle Leg	muscle
33	chr4:7531200-7533400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:7531400-7531800	Enhancers	Fetal Thymus	thymus
35	chr4:7531400-7532000	Enhancers	Fetal Brain Male	brain
36	chr4:7531400-7532600	Enhancers	Brain Germinal Matrix	brain
37	chr4:7531600-7533000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:7531600-7533200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:7531600-7533200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:7531600-7540800	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:7531800-7532800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:7531800-7533200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:7532000-7532400	Enhancers	Fetal Heart	heart
44	chr4:7532000-7532400	Enhancers	Fetal Lung	lung
45	chr4:7532000-7532400	Flanking Active TSS	HepG2	liver
46	chr4:7532000-7533200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:7532200-7533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:7532400-7532800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:7532400-7532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:7532400-7533200	Enhancers	Liver	Liver

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