Variant report

Variant	nsv878556
Chromosome Location	chr4:7325002-7339378
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	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
2	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:
3	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
4	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
5	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:
6	chr4:7190742..7191404-chr4:7337213..7337934,2	MCF-7	breast:
7	chr4:7196017..7196563-chr4:7337188..7337952,2	MCF-7	breast:
8	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
9	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
10	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 831 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4689705	chr4:7325002-7325003	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184995994	chr4:7325003-7325004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs548488491	chr4:7325052-7325053	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs116709205	chr4:7325152-7325153	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs530802597	chr4:7325229-7325230	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189334659	chr4:7325240-7325241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs570808989	chr4:7325314-7325315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs534908151	chr4:7325347-7325348	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546753638	chr4:7325420-7325421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs35071273	chr4:7325454-7325455	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535776754	chr4:7325489-7325490	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs10937805	chr4:7325491-7325492	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs180913790	chr4:7325492-7325493	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs536605096	chr4:7325507-7325508	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs558623329	chr4:7325520-7325521	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs185767158	chr4:7325539-7325540	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs576986724	chr4:7325540-7325541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs541243553	chr4:7325542-7325543	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs559110678	chr4:7325548-7325549	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs559622169	chr4:7325568-7325569	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs114931359	chr4:7325591-7325592	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs573108218	chr4:7325657-7325658	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563395171	chr4:7325666-7325667	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147391728	chr4:7325667-7325668	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552259067	chr4:7325709-7325710	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564617804	chr4:7325726-7325727	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111787402	chr4:7325743-7325744	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546664271	chr4:7325747-7325748	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375944864	chr4:7325748-7325749	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550103783	chr4:7325754-7325755	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568364643	chr4:7325757-7325758	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565183728	chr4:7325760-7325761	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149367501	chr4:7325780-7325781	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551268079	chr4:7325782-7325783	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569405657	chr4:7325788-7325789	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368901954	chr4:7325837-7325838	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs4689706	chr4:7325840-7325841	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558234748	chr4:7325862-7325863	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs570446669	chr4:7325874-7325875	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs534738323	chr4:7325879-7325880	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs553093706	chr4:7325883-7325884	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs574693618	chr4:7325978-7325979	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs17756652	chr4:7325990-7325991	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs367848646	chr4:7325992-7325993	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs115001782	chr4:7326038-7326039	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs572344865	chr4:7326076-7326077	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs4689105	chr4:7326083-7326084	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528466146	chr4:7326141-7326142	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs540370432	chr4:7326157-7326158	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs561807359	chr4:7326168-7326169	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7311800-7326400	Weak transcription	Fetal Brain Male	brain
2	chr4:7322400-7328400	Weak transcription	HSMMtube	muscle
3	chr4:7322600-7325800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7323000-7330800	Weak transcription	Right Atrium	heart
5	chr4:7323600-7325400	Enhancers	Fetal Lung	lung
6	chr4:7323600-7325400	Enhancers	Fetal Stomach	stomach
7	chr4:7323600-7325600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:7323600-7327200	Enhancers	Brain Anterior Caudate	brain
9	chr4:7323600-7331600	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:7323800-7326400	Enhancers	Brain Hippocampus Middle	brain
11	chr4:7323800-7326800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:7323800-7327000	Enhancers	Brain Angular Gyrus	brain
13	chr4:7324200-7325200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:7324200-7325200	Enhancers	Fetal Kidney	kidney
15	chr4:7324400-7327000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:7324400-7327200	Enhancers	Brain Substantia Nigra	brain
17	chr4:7324400-7328400	Weak transcription	NH-A	brain
18	chr4:7324400-7328600	Weak transcription	Brain Germinal Matrix	brain
19	chr4:7324400-7335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:7324600-7325200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7324600-7325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:7324600-7326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:7324800-7328600	Weak transcription	Ovary	ovary
24	chr4:7325000-7325200	Bivalent Enhancer	Placenta	Placenta
25	chr4:7325000-7328000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:7325200-7325400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:7325200-7325600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:7325200-7329800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr4:7325400-7325800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:7325400-7328400	Weak transcription	Fetal Lung	lung
31	chr4:7325600-7325800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:7325600-7326000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:7325600-7326200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:7325600-7328800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr4:7325800-7326000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr4:7325800-7326200	Enhancers	Fetal Brain Female	brain
37	chr4:7325800-7326600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:7325800-7327000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:7325800-7327000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:7326000-7326200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:7326000-7326800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr4:7326000-7327000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:7326000-7327000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:7326200-7327600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:7326400-7326600	Enhancers	Fetal Brain Male	brain
46	chr4:7326400-7327200	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:7326600-7327200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:7326800-7327000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr4:7326800-7328200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:7327000-7327600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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