Variant report

Variant	nsv878554
Chromosome Location	chr4:7323450-7338852
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	chr4:7196017..7196563-chr4:7337188..7337952,2	MCF-7	breast:
2	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
3	chr4:7190742..7191404-chr4:7337213..7337934,2	MCF-7	breast:
4	chr4:7308048..7310472-chr4:7320955..7323841,2	MCF-7	breast:
5	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:
6	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
7	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:
8	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
9	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
10	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
11	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 897 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9994752	chr4:7323450-7323451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548732875	chr4:7323454-7323455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145103857	chr4:7323471-7323472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73208468	chr4:7323523-7323524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73208469	chr4:7323544-7323545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185448749	chr4:7323574-7323575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79833213	chr4:7323580-7323581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568741302	chr4:7323599-7323600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553974669	chr4:7323615-7323616	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs377082282	chr4:7323620-7323621	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs577523192	chr4:7323634-7323635	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs543261553	chr4:7323644-7323645	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs375404690	chr4:7323669-7323670	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs145818220	chr4:7323687-7323688	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs16840039	chr4:7323696-7323697	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs543810189	chr4:7323700-7323701	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs565565350	chr4:7323702-7323703	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs532799819	chr4:7323706-7323707	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs551311077	chr4:7323764-7323765	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs559837330	chr4:7323793-7323794	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs527419213	chr4:7323830-7323831	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs73796632	chr4:7323886-7323887	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566955357	chr4:7323890-7323891	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs71645796	chr4:7323901-7323902	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs73208470	chr4:7323913-7323914	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538033849	chr4:7323920-7323921	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs549813706	chr4:7323933-7323934	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs549186935	chr4:7323945-7323946	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs538676634	chr4:7323997-7323998	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs73208471	chr4:7323999-7324000	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572458065	chr4:7324002-7324003	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs536773511	chr4:7324027-7324028	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs555099746	chr4:7324034-7324035	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs576752001	chr4:7324036-7324037	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs543955619	chr4:7324050-7324051	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs531661300	chr4:7324076-7324077	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs558989731	chr4:7324077-7324078	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs577438302	chr4:7324094-7324095	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs541345866	chr4:7324121-7324122	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs143509987	chr4:7324131-7324132	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs80105870	chr4:7324148-7324149	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs542353004	chr4:7324151-7324152	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs560607706	chr4:7324156-7324157	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569169086	chr4:7324172-7324173	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs531407623	chr4:7324173-7324174	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs549918125	chr4:7324176-7324177	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs571464421	chr4:7324180-7324181	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs147972374	chr4:7324182-7324183	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs539775220	chr4:7324193-7324194	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs77548481	chr4:7324220-7324221	Enhancers Weak transcription Genic enhancers Flanking Active TSS 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:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7311800-7326400	Weak transcription	Fetal Brain Male	brain
2	chr4:7315600-7324200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:7321400-7323600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7322400-7324000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:7322400-7328400	Weak transcription	HSMMtube	muscle
6	chr4:7322600-7325800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:7323000-7330800	Weak transcription	Right Atrium	heart
8	chr4:7323200-7324000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:7323400-7323600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7323400-7324400	Enhancers	Brain Germinal Matrix	brain
11	chr4:7323600-7324000	Enhancers	Brain Substantia Nigra	brain
12	chr4:7323600-7324400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:7323600-7324800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr4:7323600-7325400	Enhancers	Fetal Lung	lung
15	chr4:7323600-7325400	Enhancers	Fetal Stomach	stomach
16	chr4:7323600-7325600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:7323600-7327200	Enhancers	Brain Anterior Caudate	brain
18	chr4:7323600-7331600	Enhancers	Brain Cingulate Gyrus	brain
19	chr4:7323800-7324200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:7323800-7324400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:7323800-7324400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:7323800-7324400	Bivalent Enhancer	Placenta	Placenta
23	chr4:7323800-7324600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr4:7323800-7324800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:7323800-7324800	Enhancers	Ovary	ovary
26	chr4:7323800-7326400	Enhancers	Brain Hippocampus Middle	brain
27	chr4:7323800-7326800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:7323800-7327000	Enhancers	Brain Angular Gyrus	brain
29	chr4:7324000-7324400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:7324000-7324400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:7324000-7324400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr4:7324000-7324400	Enhancers	Fetal Intestine Small	intestine
33	chr4:7324000-7324400	Enhancers	NH-A	brain
34	chr4:7324000-7324600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:7324000-7324800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:7324200-7324400	Enhancers	Lung	lung
37	chr4:7324200-7324600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:7324200-7324800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:7324200-7325000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:7324200-7325000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr4:7324200-7325200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:7324200-7325200	Enhancers	Fetal Kidney	kidney
43	chr4:7324400-7324600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:7324400-7324800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:7324400-7325000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:7324400-7327000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:7324400-7327200	Enhancers	Brain Substantia Nigra	brain
48	chr4:7324400-7328400	Weak transcription	NH-A	brain
49	chr4:7324400-7328600	Weak transcription	Brain Germinal Matrix	brain
50	chr4:7324400-7335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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