Variant report

Variant	nsv997986
Chromosome Location	chr4:10384104-10400656
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:
2	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:
3	chr4:10377322..10379936-chr4:10386087..10389023,2	K562	blood:
4	chr4:10117806..10121732-chr4:10389330..10392612,4	K562	blood:
5	chr4:10179643..10181436-chr4:10389855..10391388,2	K562	blood:
6	chr4:10370932..10373880-chr4:10390683..10392321,2	K562	blood:
7	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
8	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:
9	chr4:10380945..10383777-chr4:10383962..10385513,2	K562	blood:
10	chr4:10116794..10121385-chr4:10387531..10390337,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 760 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58732845	chr4:10384110-10384111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531381916	chr4:10384111-10384112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549746146	chr4:10384118-10384119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571507068	chr4:10384130-10384131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538601162	chr4:10384145-10384146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185002318	chr4:10384170-10384171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75383974	chr4:10384189-10384190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571672704	chr4:10384196-10384197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386671639	chr4:10384200-10384201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6447934	chr4:10384203-10384204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76129585	chr4:10384210-10384211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536317615	chr4:10384213-10384214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554727200	chr4:10384220-10384221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114106551	chr4:10384230-10384231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189848020	chr4:10384252-10384253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376166876	chr4:10384255-10384256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59420943	chr4:10384278-10384279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578162938	chr4:10384285-10384286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545387573	chr4:10384288-10384289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142501924	chr4:10384293-10384294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375558761	chr4:10384295-10384296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560081187	chr4:10384312-10384313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527704160	chr4:10384331-10384332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59592779	chr4:10384352-10384353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561033297	chr4:10384379-10384380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531750754	chr4:10384386-10384387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549942886	chr4:10384389-10384390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564932741	chr4:10384451-10384452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532392188	chr4:10384452-10384453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547729481	chr4:10384453-10384454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377732502	chr4:10384498-10384499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536230264	chr4:10384518-10384519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548241403	chr4:10384529-10384530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569765869	chr4:10384538-10384539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536750355	chr4:10384554-10384555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556678762	chr4:10384555-10384556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143783136	chr4:10384562-10384563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539293887	chr4:10384563-10384564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532411311	chr4:10384586-10384587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572442935	chr4:10384598-10384599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536181236	chr4:10384607-10384608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73103070	chr4:10384613-10384614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148164337	chr4:10384632-10384633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116421276	chr4:10384638-10384639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555028921	chr4:10384653-10384654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543559876	chr4:10384692-10384693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370900332	chr4:10384709-10384710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565054578	chr4:10384723-10384724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4698044	chr4:10384743-10384744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547638862	chr4:10384787-10384788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10374200-10386600	Weak transcription	K562	blood
2	chr4:10382400-10384400	Weak transcription	Thymus	Thymus
3	chr4:10383400-10386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:10383400-10386400	Weak transcription	NHEK	skin
5	chr4:10383400-10386600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:10383600-10386200	Weak transcription	HMEC	breast
7	chr4:10383600-10386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:10384400-10384600	Enhancers	Fetal Thymus	thymus
9	chr4:10384400-10389000	Enhancers	Thymus	Thymus
10	chr4:10384600-10385200	Weak transcription	Fetal Thymus	thymus
11	chr4:10385200-10388200	Enhancers	Fetal Thymus	thymus
12	chr4:10385600-10386400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:10385800-10386600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr4:10386200-10387800	Enhancers	HMEC	breast
15	chr4:10386400-10387800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:10386400-10388000	Enhancers	NHEK	skin
17	chr4:10386600-10387000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:10386600-10387800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:10386600-10388800	Enhancers	K562	blood
20	chr4:10387000-10403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:10387800-10391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:10387800-10397000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:10390000-10391000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:10390000-10391600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:10390000-10392200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:10390200-10392200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:10390200-10392400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:10390400-10391400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:10391000-10391400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:10391000-10391800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:10391400-10392000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:10391800-10392000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:10396800-10399600	Enhancers	HMEC	breast
34	chr4:10397000-10399000	Enhancers	NHEK	skin
35	chr4:10397000-10400000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:10397200-10399200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:10397400-10398400	Enhancers	K562	blood
38	chr4:10397600-10399000	Enhancers	Fetal Thymus	thymus
39	chr4:10397800-10398400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:10398400-10403400	Weak transcription	K562	blood
41	chr4:10398600-10398800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:10399000-10405600	Weak transcription	NHEK	skin
43	chr4:10399200-10402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:10399600-10400000	Weak transcription	HMEC	breast
45	chr4:10400000-10400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:10400000-10400600	Enhancers	HMEC	breast
47	chr4:10400400-10400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:10400600-10405200	Weak transcription	HMEC	breast
49	chr4:10400600-10405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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