Variant report

Variant	nsv470008
Chromosome Location	chr4:7423034-7432577
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7420470..7422077-chr4:7425743..7427334,2	MCF-7	breast:
2	chr4:7430206..7433720-chr4:7434978..7437884,3	K562	blood:
3	chr4:7421765..7423604-chr4:7439157..7441831,2	K562	blood:
4	chr4:7432269..7435967-chr4:7438458..7442398,4	MCF-7	breast:
5	chr4:7426666..7428188-chr4:7440042..7442576,2	MCF-7	breast:
6	chr4:7421842..7424756-chr4:7435320..7437360,2	MCF-7	breast:
7	chr4:7428532..7430154-chr4:7431457..7433548,3	K562	blood:
8	chr4:7430997..7432542-chr4:7435254..7438169,2	MCF-7	breast:
9	chr4:7428532..7430154-chr4:7431457..7433548,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSAPL1-1	chr4:7432021-7433304	NONHSAT095056

No data

Variant related genes	Relation type
ENSG00000178597	chromatin interactions

Extended variants
information (count: 569 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7671061	chr4:7423034-7423035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561750232	chr4:7423050-7423051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529057522	chr4:7423056-7423057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568940422	chr4:7423125-7423126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371268155	chr4:7423126-7423127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550610495	chr4:7423161-7423162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371928666	chr4:7423178-7423179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537584167	chr4:7423190-7423191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373291393	chr4:7423227-7423228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562760883	chr4:7423267-7423268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185691778	chr4:7423269-7423270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190217927	chr4:7423275-7423276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116492766	chr4:7423287-7423288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116777591	chr4:7423314-7423315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74467110	chr4:7423319-7423320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141814300	chr4:7423342-7423343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567759285	chr4:7423374-7423375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140794514	chr4:7423398-7423399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556483033	chr4:7423414-7423415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577611042	chr4:7423427-7423428	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185236942	chr4:7423450-7423451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539076386	chr4:7423467-7423468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376957471	chr4:7423474-7423475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572472787	chr4:7423476-7423477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539975709	chr4:7423516-7423517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561777270	chr4:7423519-7423520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73084292	chr4:7423542-7423543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371136046	chr4:7423552-7423553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116646936	chr4:7423579-7423580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373721115	chr4:7423595-7423596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73084294	chr4:7423598-7423599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188822235	chr4:7423610-7423611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150088058	chr4:7423629-7423630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560495424	chr4:7423635-7423636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10712497	chr4:7423638-7423639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535424010	chr4:7423644-7423645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138622305	chr4:7423649-7423650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567741914	chr4:7423658-7423659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575287179	chr4:7423659-7423660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531861360	chr4:7423663-7423664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377704948	chr4:7423664-7423665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571644711	chr4:7423710-7423711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115539551	chr4:7423712-7423713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7694661	chr4:7423751-7423752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance disease
45	rs376845944	chr4:7423754-7423755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566348049	chr4:7423766-7423767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558057026	chr4:7423773-7423774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573524572	chr4:7423811-7423812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7694697	chr4:7423815-7423816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573657711	chr4:7423834-7423835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7418800-7429200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7421600-7424200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:7421800-7425200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:7422600-7425200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:7422600-7425400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:7422800-7425400	Weak transcription	Brain Substantia Nigra	brain
7	chr4:7422800-7425600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:7422800-7425600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:7423000-7425000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:7423000-7425200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:7423000-7425600	Weak transcription	Esophagus	oesophagus
12	chr4:7423200-7436200	Weak transcription	Right Atrium	heart
13	chr4:7423400-7423800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7423800-7424000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:7423800-7424000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:7424000-7424600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7424000-7426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:7424200-7425600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:7424400-7425600	Weak transcription	Spleen	Spleen
20	chr4:7424600-7425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7424800-7425000	Enhancers	Brain Germinal Matrix	brain
22	chr4:7425000-7425600	Weak transcription	Brain Germinal Matrix	brain
23	chr4:7425000-7430400	Enhancers	Fetal Muscle Leg	muscle
24	chr4:7425200-7426200	Enhancers	Brain Anterior Caudate	brain
25	chr4:7425200-7426200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:7425200-7426200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:7425200-7430400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:7425400-7426000	Enhancers	Brain Hippocampus Middle	brain
29	chr4:7425400-7426200	Enhancers	Brain Substantia Nigra	brain
30	chr4:7425600-7425800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:7425600-7425800	Enhancers	Brain Germinal Matrix	brain
32	chr4:7425600-7426200	Enhancers	Brain Cingulate Gyrus	brain
33	chr4:7425600-7426600	Enhancers	Esophagus	oesophagus
34	chr4:7425600-7427000	Enhancers	Spleen	Spleen
35	chr4:7425600-7427400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:7425600-7429800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:7425800-7426200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:7425800-7429200	Weak transcription	Brain Germinal Matrix	brain
39	chr4:7426200-7426600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:7426200-7426600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:7426200-7427200	Enhancers	HMEC	breast
42	chr4:7426200-7428400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:7426400-7427200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:7426400-7427200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:7426400-7427200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:7426600-7427200	Bivalent/Poised TSS	HepG2	liver
47	chr4:7426600-7427800	Enhancers	Fetal Thymus	thymus
48	chr4:7426600-7429800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:7426600-7431600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:7426600-7431800	Weak transcription	Esophagus	oesophagus

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