Variant report

Variant	nsv878559
Chromosome Location	chr4:7353052-7376694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7368817..7370379-chr4:7371392..7373136,2	MCF-7	breast:
2	chr4:7193444..7195418-chr4:7373102..7374832,2	MCF-7	breast:
3	chr4:7375155..7379159-chr4:7380747..7383834,3	K562	blood:
4	chr4:7355383..7357989-chr4:7359924..7361691,2	MCF-7	breast:
5	chr4:7368817..7370379-chr4:7371392..7373136,2	MCF-7	breast:
6	chr4:7343522..7345728-chr4:7361522..7364374,3	MCF-7	breast:
7	chr4:7355383..7357989-chr4:7359924..7361691,2	MCF-7	breast:
8	chr4:7368964..7371820-chr4:7419661..7422236,2	K562	blood:

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 1354 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13110208	chr4:7353052-7353053	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565839731	chr4:7353066-7353067	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183844906	chr4:7353089-7353090	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554758536	chr4:7353093-7353094	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576203687	chr4:7353126-7353127	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543589575	chr4:7353127-7353128	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559023930	chr4:7353171-7353172	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577459950	chr4:7353198-7353199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371051208	chr4:7353245-7353246	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188340036	chr4:7353271-7353272	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560043925	chr4:7353308-7353309	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192443571	chr4:7353322-7353323	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs141249175	chr4:7353337-7353338	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561086794	chr4:7353373-7353374	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531562800	chr4:7353387-7353388	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532161913	chr4:7353410-7353411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566929131	chr4:7353411-7353412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534050055	chr4:7353418-7353419	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148794358	chr4:7353436-7353437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs76181180	chr4:7353437-7353438	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549932470	chr4:7353443-7353444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183786438	chr4:7353450-7353451	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187641279	chr4:7353467-7353468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374292820	chr4:7353482-7353483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547484281	chr4:7353497-7353498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565704845	chr4:7353519-7353520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536369307	chr4:7353545-7353546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554674384	chr4:7353602-7353603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376095144	chr4:7353610-7353611	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569801649	chr4:7353726-7353727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537289811	chr4:7353743-7353744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559106555	chr4:7353744-7353745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562610275	chr4:7353753-7353754	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541666752	chr4:7353767-7353768	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368494308	chr4:7353850-7353851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553502181	chr4:7353891-7353892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572040966	chr4:7353893-7353894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542622570	chr4:7353913-7353914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560999675	chr4:7353934-7353935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531425140	chr4:7353956-7353957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117234230	chr4:7354062-7354063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565050685	chr4:7354086-7354087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532321091	chr4:7354147-7354148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547643618	chr4:7354149-7354150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191347326	chr4:7354194-7354195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183492416	chr4:7354204-7354205	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548170318	chr4:7354208-7354209	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60030877	chr4:7354224-7354225	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150784648	chr4:7354245-7354246	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552502993	chr4:7354251-7354252	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7346600-7355600	Weak transcription	Ovary	ovary
2	chr4:7346600-7367200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7350800-7353800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:7351400-7353200	Enhancers	Brain Anterior Caudate	brain
5	chr4:7351400-7365000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:7351600-7357400	Enhancers	Brain Angular Gyrus	brain
7	chr4:7351600-7365000	Enhancers	Brain Substantia Nigra	brain
8	chr4:7351800-7356200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:7351800-7357600	Enhancers	Brain Hippocampus Middle	brain
10	chr4:7352400-7353800	Enhancers	Brain Germinal Matrix	brain
11	chr4:7352600-7353200	Enhancers	Fetal Brain Male	brain
12	chr4:7352800-7353200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:7352800-7354200	Weak transcription	Lung	lung
14	chr4:7353000-7353400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:7353000-7353800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:7353000-7353800	Enhancers	Fetal Brain Female	brain
17	chr4:7353200-7353600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr4:7353200-7358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:7353600-7364800	Enhancers	Brain Anterior Caudate	brain
20	chr4:7353800-7357000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:7353800-7358200	Weak transcription	Brain Germinal Matrix	brain
22	chr4:7353800-7358600	Weak transcription	Fetal Brain Female	brain
23	chr4:7354200-7354400	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:7354200-7354400	Enhancers	Lung	lung
25	chr4:7354200-7354600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7355400-7355600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:7355400-7360400	Enhancers	Fetal Lung	lung
28	chr4:7355600-7359800	Enhancers	Ovary	ovary
29	chr4:7356000-7356200	Enhancers	Fetal Stomach	stomach
30	chr4:7356000-7357400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:7356200-7356600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:7356200-7357000	Weak transcription	Fetal Stomach	stomach
33	chr4:7356400-7356600	Enhancers	NH-A	brain
34	chr4:7356400-7356800	Enhancers	NHLF	lung
35	chr4:7356400-7357000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr4:7356600-7356800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:7356600-7357200	Weak transcription	NH-A	brain
38	chr4:7356800-7357200	Weak transcription	NHLF	lung
39	chr4:7356800-7358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:7357000-7358200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:7357000-7360600	Enhancers	Fetal Stomach	stomach
42	chr4:7357200-7357400	Enhancers	NH-A	brain
43	chr4:7357200-7357400	Enhancers	NHLF	lung
44	chr4:7357400-7357800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:7357400-7358000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr4:7357400-7359200	Weak transcription	NH-A	brain
47	chr4:7357400-7359600	Weak transcription	Brain Angular Gyrus	brain
48	chr4:7357400-7359800	Weak transcription	NHLF	lung
49	chr4:7357600-7357800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:7357600-7358000	Weak transcription	Brain Hippocampus Middle	brain

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