Variant report

Variant	nsv516573
Chromosome Location	chr4:10388610-10407572
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:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10158544..10160312-chr4:10404691..10406060,12	K562	blood:
2	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:
3	chr4:10179643..10181436-chr4:10389855..10391388,2	K562	blood:
4	chr4:10181802..10184742-chr4:10401642..10403855,2	K562	blood:
5	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
6	chr4:10166236..10167092-chr4:10405236..10406016,3	MCF-7	breast:
7	chr17:59945131..59945952-chr4:10405006..10405538,2	MCF-7	breast:
8	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:
9	chr4:10185450..10187184-chr4:10401056..10402949,2	K562	blood:
10	chr4:10118696..10122262-chr4:10407294..10411909,5	K562	blood:
11	chr4:10184632..10187184-chr4:10400763..10402949,2	K562	blood:
12	chr4:10161526..10162602-chr4:10405096..10406350,5	K562	blood:
13	chr4:10117806..10121732-chr4:10389330..10392612,4	K562	blood:
14	chr4:10377322..10379936-chr4:10386087..10389023,2	K562	blood:
15	chr4:10186739..10189194-chr4:10403510..10406450,4	K562	blood:
16	chr4:10406734..10408445-chr4:10443381..10446084,2	K562	blood:
17	chr4:10180539..10184306-chr4:10401076..10403855,3	K562	blood:
18	chr4:10187220..10189194-chr4:10403510..10406450,3	K562	blood:
19	chr4:10166196..10167366-chr4:10404929..10406035,4	MCF-7	breast:
20	chr4:10172802..10175283-chr4:10404131..10407127,2	K562	blood:
21	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:
22	chr4:10166113..10167122-chr4:10405126..10405888,4	K562	blood:
23	chr4:10116794..10121385-chr4:10387531..10390337,4	K562	blood:
24	chr4:10182452..10185153-chr4:10405566..10407454,2	K562	blood:
25	chr4:10370932..10373880-chr4:10390683..10392321,2	K562	blood:
26	chr4:10120437..10124442-chr4:10402726..10405362,4	K562	blood:
27	chr4:10159016..10159805-chr4:10405257..10406163,3	MCF-7	breast:
28	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
29	chr4:10194015..10194637-chr4:10405680..10406337,2	MCF-7	breast:
30	chr4:10405058..10406722-chr4:10414024..10415781,2	K562	blood:
31	chr4:10166648..10168321-chr4:10402902..10405737,2	K562	blood:
32	chr4:10117259..10123841-chr4:10401893..10417202,19	K562	blood:
33	chr4:10117259..10119774-chr4:10404203..10405780,2	K562	blood:
34	chr4:10187984..10188890-chr4:10405320..10406071,3	MCF-7	breast:
35	chr4:10404962..10406013-chr4:10527520..10528737,3	MCF-7	breast:
36	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-4	chr4:10404495-10404649	NONHSAT095495
2	lnc-DRD5-4	chr4:10404495-10404649	FPKM1_group_22843_transcript_2

No data

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 847 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9990701	chr4:10388610-10388611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371398607	chr4:10388611-10388612	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565775235	chr4:10388621-10388622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559441351	chr4:10388634-10388635	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536354335	chr4:10388635-10388636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377201328	chr4:10388648-10388649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530744645	chr4:10388668-10388669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555886961	chr4:10388677-10388678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150551586	chr4:10388696-10388697	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113635639	chr4:10388697-10388698	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs73224468	chr4:10388708-10388709	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374662338	chr4:10388719-10388720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577959671	chr4:10388730-10388731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs77423581	chr4:10388790-10388791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140523595	chr4:10388811-10388812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs180929499	chr4:10388817-10388818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530759924	chr4:10388822-10388823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542773253	chr4:10388856-10388857	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530085047	chr4:10388860-10388861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561111265	chr4:10388865-10388866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531387157	chr4:10388875-10388876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549979563	chr4:10388880-10388881	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144488040	chr4:10388918-10388919	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111527187	chr4:10388928-10388929	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547368493	chr4:10388957-10388958	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374630318	chr4:10389000-10389001	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565687677	chr4:10389034-10389035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs377682609	chr4:10389061-10389062	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139801661	chr4:10389071-10389072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548002498	chr4:10389091-10389092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569767290	chr4:10389093-10389094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538046492	chr4:10389094-10389095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556762560	chr4:10389099-10389100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185795318	chr4:10389116-10389117	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145016474	chr4:10389121-10389122	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77597509	chr4:10389130-10389131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553714357	chr4:10389138-10389139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572126526	chr4:10389216-10389217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570390794	chr4:10389238-10389239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190654852	chr4:10389245-10389246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554753340	chr4:10389249-10389250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549272412	chr4:10389250-10389251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369054834	chr4:10389252-10389253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534697357	chr4:10389281-10389282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576523918	chr4:10389314-10389315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561095883	chr4:10389325-10389326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56075212	chr4:10389327-10389328	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532408042	chr4:10389362-10389363	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372462595	chr4:10389379-10389380	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559364829	chr4:10389387-10389388	Weak transcription	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10384400-10389000	Enhancers	Thymus	Thymus
2	chr4:10386600-10388800	Enhancers	K562	blood
3	chr4:10387000-10403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:10387800-10391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:10387800-10397000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:10390000-10391000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:10390000-10391600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:10390000-10392200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:10390200-10392200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:10390200-10392400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:10390400-10391400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:10391000-10391400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:10391000-10391800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:10391400-10392000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:10391800-10392000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:10396800-10399600	Enhancers	HMEC	breast
17	chr4:10397000-10399000	Enhancers	NHEK	skin
18	chr4:10397000-10400000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:10397200-10399200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:10397400-10398400	Enhancers	K562	blood
21	chr4:10397600-10399000	Enhancers	Fetal Thymus	thymus
22	chr4:10397800-10398400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr4:10398400-10403400	Weak transcription	K562	blood
24	chr4:10398600-10398800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
25	chr4:10399000-10405600	Weak transcription	NHEK	skin
26	chr4:10399200-10402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:10399600-10400000	Weak transcription	HMEC	breast
28	chr4:10400000-10400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:10400000-10400600	Enhancers	HMEC	breast
30	chr4:10400400-10400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:10400600-10405200	Weak transcription	HMEC	breast
32	chr4:10400600-10405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:10402800-10403000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:10403400-10406000	Enhancers	K562	blood
35	chr4:10405200-10405800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:10405200-10406000	Enhancers	HMEC	breast
37	chr4:10405400-10406000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:10405600-10406000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:10405600-10406000	Enhancers	NHEK	skin
40	chr4:10405600-10406400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:10406000-10408800	Weak transcription	K562	blood
42	chr4:10407400-10407600	Enhancers	Fetal Heart	heart

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