Variant report

Variant	nsv524212
Chromosome Location	chr4:3275484-3283422
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	chr4:3268743..3271551-chr4:3273568..3275857,3	MCF-7	breast:
2	chr4:3274170..3275829-chr4:3293508..3295795,2	MCF-7	breast:
3	chr4:3279004..3281041-chr4:3293063..3295560,2	K562	blood:
4	chr4:3281505..3284592-chr4:3285630..3289153,4	MCF-7	breast:
5	chr4:3213994..3215627-chr4:3278478..3280944,2	MCF-7	breast:
6	chr4:3276746..3278804-chr4:3288196..3290777,2	K562	blood:
7	chr4:3277870..3279701-chr4:3282246..3285205,2	MCF-7	breast:
8	chr4:3276654..3280609-chr4:3292569..3295812,3	MCF-7	breast:
9	chr4:3277035..3279969-chr4:3294463..3296072,2	MCF-7	breast:
10	chr4:3280159..3283756-chr4:3293492..3296158,5	MCF-7	breast:
11	chr4:3277870..3279701-chr4:3282246..3285205,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159788	chromatin interactions

Extended variants
information (count: 334 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9996868	chr4:3275484-3275485	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs202152000	chr4:3275499-3275500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572481756	chr4:3275515-3275516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574081094	chr4:3275585-3275586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543531940	chr4:3275648-3275649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6446728	chr4:3275650-3275651	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188957198	chr4:3275658-3275659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548114469	chr4:3275659-3275660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561232524	chr4:3275691-3275692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562015497	chr4:3275753-3275754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527627444	chr4:3275777-3275778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75472220	chr4:3275847-3275848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76211615	chr4:3275851-3275852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74992721	chr4:3275914-3275915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149883939	chr4:3275959-3275960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569800957	chr4:3275981-3275982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374490406	chr4:3276036-3276037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74637379	chr4:3276053-3276054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36089999	chr4:3276055-3276056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3129318	chr4:3276071-3276072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555729487	chr4:3276082-3276083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7668756	chr4:3276090-3276091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535011477	chr4:3276103-3276104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557704165	chr4:3276107-3276108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367849514	chr4:3276108-3276109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372419951	chr4:3276131-3276132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375519477	chr4:3276138-3276139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369767900	chr4:3276141-3276142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372577039	chr4:3276152-3276153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375609891	chr4:3276153-3276154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543448287	chr4:3276156-3276157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369260111	chr4:3276162-3276163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372732493	chr4:3276163-3276164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377169725	chr4:3276166-3276167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370920828	chr4:3276170-3276171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375098087	chr4:3276175-3276176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377745760	chr4:3276185-3276186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371158326	chr4:3276186-3276187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557017324	chr4:3276191-3276192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374890502	chr4:3276194-3276195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376912142	chr4:3276195-3276196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561740166	chr4:3276196-3276197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543883686	chr4:3276228-3276229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559224879	chr4:3276231-3276232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6810603	chr4:3276257-3276258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370531744	chr4:3276280-3276281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113648668	chr4:3276285-3276286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6446730	chr4:3276290-3276291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574889600	chr4:3276317-3276318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61129180	chr4:3276341-3276342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3260200-3278200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:3272200-3278600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:3272200-3282200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3272400-3287600	Weak transcription	Pancreas	Pancrea
6	chr4:3272600-3280200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:3276400-3278600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:3277200-3278200	Weak transcription	Fetal Brain Male	brain
9	chr4:3277600-3278600	Enhancers	Brain Germinal Matrix	brain
10	chr4:3278200-3278400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:3278200-3279000	Enhancers	Fetal Brain Male	brain
12	chr4:3278400-3278600	Enhancers	Brain Hippocampus Middle	brain
13	chr4:3278400-3278600	Enhancers	Brain Substantia Nigra	brain
14	chr4:3278400-3278600	Enhancers	NH-A	brain
15	chr4:3278400-3278600	Bivalent Enhancer	NHDF-Ad	bronchial
16	chr4:3278400-3278600	Enhancers	NHLF	lung
17	chr4:3278400-3278800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr4:3278400-3279200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:3278400-3279200	Active TSS	Brain Anterior Caudate	brain
20	chr4:3278400-3279200	Enhancers	HSMMtube	muscle
21	chr4:3278600-3278800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr4:3278600-3278800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:3278600-3278800	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr4:3278600-3278800	Enhancers	Fetal Lung	lung
25	chr4:3278600-3278800	Active TSS	Stomach Smooth Muscle	stomach
26	chr4:3278600-3278800	Flanking Active TSS	NH-A	brain
27	chr4:3278600-3279000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:3278600-3279000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:3278600-3279000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:3278600-3279000	Active TSS	Brain Angular Gyrus	brain
31	chr4:3278600-3279000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr4:3278600-3279000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
33	chr4:3278600-3279200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:3278600-3279200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr4:3278600-3279200	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr4:3278600-3279200	Flanking Active TSS	NHLF	lung
37	chr4:3278600-3279400	Enhancers	HSMM	muscle
38	chr4:3278600-3279400	Bivalent Enhancer	Osteobl	bone
39	chr4:3278800-3279000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr4:3278800-3279000	Active TSS	Brain Substantia Nigra	brain
41	chr4:3278800-3279000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr4:3278800-3279000	Enhancers	NH-A	brain
43	chr4:3278800-3279200	Active TSS	Brain Hippocampus Middle	brain
44	chr4:3278800-3279400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:3279000-3279200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:3279000-3279200	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr4:3279000-3279200	Enhancers	Brain Cingulate Gyrus	brain
48	chr4:3279000-3279200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr4:3279000-3279200	Flanking Active TSS	NH-A	brain
50	chr4:3279000-3279400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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