Variant report

Variant	nsv461203
Chromosome Location	chr4:7423751-7434607
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

(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: 652 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7694661	chr4:7423751-7423752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance disease
2	rs376845944	chr4:7423754-7423755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566348049	chr4:7423766-7423767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558057026	chr4:7423773-7423774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573524572	chr4:7423811-7423812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7694697	chr4:7423815-7423816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573657711	chr4:7423834-7423835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11731502	chr4:7423842-7423843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7693497	chr4:7423851-7423852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7694875	chr4:7423879-7423880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377149764	chr4:7423902-7423903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545323117	chr4:7423912-7423913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74556293	chr4:7423913-7423914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373024695	chr4:7423929-7423930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561485562	chr4:7423961-7423962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527728031	chr4:7423976-7423977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543007956	chr4:7423987-7423988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554027149	chr4:7424003-7424004	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561255314	chr4:7424004-7424005	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531818294	chr4:7424029-7424030	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549829476	chr4:7424030-7424031	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544202467	chr4:7424058-7424059	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532522474	chr4:7424083-7424084	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547694040	chr4:7424097-7424098	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11723618	chr4:7424121-7424122	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533581449	chr4:7424126-7424127	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555326028	chr4:7424132-7424133	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11731607	chr4:7424141-7424142	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138092067	chr4:7424148-7424149	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556245167	chr4:7424151-7424152	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551594233	chr4:7424165-7424166	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113578682	chr4:7424196-7424197	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114275345	chr4:7424202-7424203	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565232719	chr4:7424214-7424215	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114926647	chr4:7424227-7424228	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376499902	chr4:7424235-7424236	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143664208	chr4:7424243-7424244	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147482612	chr4:7424253-7424254	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542691766	chr4:7424272-7424273	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115936569	chr4:7424288-7424289	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181338039	chr4:7424337-7424338	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115600996	chr4:7424364-7424365	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543515292	chr4:7424367-7424368	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114176005	chr4:7424403-7424404	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368847639	chr4:7424422-7424423	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115067229	chr4:7424474-7424475	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547563886	chr4:7424482-7424483	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185595313	chr4:7424497-7424498	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74491793	chr4:7424508-7424509	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7694692	chr4:7424515-7424516	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:160 , 50 per page) page: 1 2 3 4

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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