Variant report

Variant	nsv10425
Chromosome Location	chr4:3467338-3474927
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	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
2	chr4:3075047..3077442-chr4:3472520..3475162,3	K562	blood:
3	chr4:3231157..3234122-chr4:3467560..3470032,2	MCF-7	breast:
4	chr4:3320217..3323147-chr4:3474744..3477107,2	MCF-7	breast:
5	chr11:3078361..3079999-chr4:3467036..3469656,2	MCF-7	breast:
6	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
7	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:
8	chr4:3287264..3290154-chr4:3470213..3472155,2	MCF-7	breast:
9	chr4:3294365..3296058-chr4:3468605..3470363,2	MCF-7	breast:
10	chr4:3465519..3467686-chr4:3526203..3530625,4	MCF-7	breast:
11	chr4:3113077..3115750-chr4:3467353..3469747,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197386	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000251075	chromatin interactions
ENSG00000110619	chromatin interactions

Extended variants
information (count: 532 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10019922	chr4:3467338-3467339	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372908449	chr4:3467361-3467362	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs193061998	chr4:3467367-3467368	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs16844413	chr4:3467450-3467451	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552568948	chr4:3467470-3467471	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570385504	chr4:3467488-3467489	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528365442	chr4:3467490-3467491	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs386670688	chr4:3467504-3467505	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6815437	chr4:3467505-3467506	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565452079	chr4:3467506-3467507	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575793928	chr4:3467508-3467509	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115507242	chr4:3467509-3467510	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10022329	chr4:3467519-3467520	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs530423544	chr4:3467524-3467525	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184107950	chr4:3467533-3467534	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529066875	chr4:3467550-3467551	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560494543	chr4:3467555-3467556	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532636651	chr4:3467567-3467568	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188614025	chr4:3467611-3467612	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs9993560	chr4:3467629-3467630	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571419092	chr4:3467632-3467633	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs181099868	chr4:3467638-3467639	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183638703	chr4:3467650-3467651	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568935395	chr4:3467653-3467654	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs28532795	chr4:3467658-3467659	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557121741	chr4:3467661-3467662	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189308026	chr4:3467678-3467679	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536154541	chr4:3467748-3467749	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552533898	chr4:3467780-3467781	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566155386	chr4:3467793-3467794	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538343151	chr4:3467802-3467803	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs151240794	chr4:3467818-3467819	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575306601	chr4:3467822-3467823	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534865329	chr4:3467839-3467840	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140454436	chr4:3467841-3467842	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566394718	chr4:3467891-3467892	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555168542	chr4:3467957-3467958	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75175342	chr4:3467958-3467959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540961653	chr4:3467959-3467960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182302728	chr4:3467960-3467961	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560485003	chr4:3468001-3468002	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs10031530	chr4:3468031-3468032	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546313059	chr4:3468036-3468037	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368089717	chr4:3468037-3468038	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs73792098	chr4:3468058-3468059	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556133047	chr4:3468059-3468060	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2344205	chr4:3468070-3468071	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368249369	chr4:3468115-3468116	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567485042	chr4:3468133-3468134	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529913702	chr4:3468156-3468157	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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 ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3464600-3467400	Active TSS	Right Ventricle	heart
2	chr4:3464800-3468600	Active TSS	HSMMtube	muscle
3	chr4:3465200-3468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:3465400-3467600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:3465400-3467600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr4:3465800-3470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:3466000-3468200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
8	chr4:3466200-3469200	Weak transcription	Gastric	stomach
9	chr4:3466400-3467600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:3466400-3468000	Weak transcription	Psoas Muscle	Psoas
11	chr4:3466400-3468200	Enhancers	Pancreas	Pancrea
12	chr4:3466400-3468800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:3466400-3482400	Weak transcription	Right Atrium	heart
14	chr4:3466800-3469200	Active TSS	HSMM	muscle
15	chr4:3467000-3467600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:3467000-3468000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:3467000-3468400	Enhancers	Left Ventricle	heart
18	chr4:3467000-3469600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
20	chr4:3467200-3469600	Enhancers	Fetal Heart	heart
21	chr4:3467200-3470400	Enhancers	Fetal Muscle Leg	muscle
22	chr4:3467400-3467600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr4:3467400-3467600	Flanking Active TSS	Right Ventricle	heart
24	chr4:3467600-3467800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:3467600-3467800	Active TSS	Right Ventricle	heart
26	chr4:3467600-3468000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:3467600-3468200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:3467600-3468800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:3467600-3469400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:3467600-3473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:3467800-3468000	Flanking Active TSS	Right Ventricle	heart
32	chr4:3468000-3468200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:3468000-3468200	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr4:3468000-3468200	Active TSS	Right Ventricle	heart
35	chr4:3468000-3468200	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr4:3468000-3468800	Enhancers	Psoas Muscle	Psoas
37	chr4:3468000-3468800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr4:3468200-3468400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr4:3468200-3468800	Flanking Active TSS	Right Ventricle	heart
40	chr4:3468200-3469000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr4:3468200-3469800	Weak transcription	Pancreas	Pancrea
42	chr4:3468400-3468600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr4:3468400-3468600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr4:3468400-3468600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:3468400-3468600	Flanking Active TSS	Left Ventricle	heart
46	chr4:3468400-3468600	Active TSS	Spleen	Spleen
47	chr4:3468400-3469000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:3468400-3469400	Enhancers	Ovary	ovary
49	chr4:3468600-3469000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:3468600-3469800	Enhancers	Left Ventricle	heart

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