Variant report

Variant	nsv1004317
Chromosome Location	chr4:10386740-10400656
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 608 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544310719	chr4:10386745-10386746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563704270	chr4:10386810-10386811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546461956	chr4:10386814-10386815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371219826	chr4:10386829-10386830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552533322	chr4:10386855-10386856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193004677	chr4:10386904-10386905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374135629	chr4:10386916-10386917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546972595	chr4:10386950-10386951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4302457	chr4:10386973-10386974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73224462	chr4:10386992-10386993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551073178	chr4:10386993-10386994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569277711	chr4:10386995-10386996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539602670	chr4:10387027-10387028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376134601	chr4:10387036-10387037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570050821	chr4:10387059-10387060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577902434	chr4:10387080-10387081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78975663	chr4:10387097-10387098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533838929	chr4:10387098-10387099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115632811	chr4:10387117-10387118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141150186	chr4:10387150-10387151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146937974	chr4:10387153-10387154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556209965	chr4:10387176-10387177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577705968	chr4:10387177-10387178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546417530	chr4:10387230-10387231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62288478	chr4:10387233-10387234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs528757248	chr4:10387255-10387256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540946910	chr4:10387268-10387269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545269728	chr4:10387279-10387280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571026606	chr4:10387296-10387297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115158428	chr4:10387306-10387307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529263880	chr4:10387314-10387315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534460447	chr4:10387382-10387383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150953334	chr4:10387396-10387397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569324741	chr4:10387410-10387411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533310392	chr4:10387449-10387450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185466205	chr4:10387511-10387512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140797948	chr4:10387531-10387532	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533809364	chr4:10387539-10387540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555220924	chr4:10387550-10387551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10020891	chr4:10387559-10387560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs367790946	chr4:10387571-10387572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537839842	chr4:10387574-10387575	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555935123	chr4:10387602-10387603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189946271	chr4:10387608-10387609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs545136876	chr4:10387613-10387614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs73224464	chr4:10387636-10387637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76993433	chr4:10387641-10387642	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150454508	chr4:10387692-10387693	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs73224465	chr4:10387698-10387699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201061705	chr4:10387748-10387749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:38 , 50 per page) page: 1

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

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