Variant report

Variant	nsv1008296
Chromosome Location	chr4:10209251-10236142
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
2	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
3	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
4	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
5	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
6	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
7	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
8	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
9	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
10	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
11	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
12	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
13	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
14	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
15	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
16	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
17	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
18	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
19	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
20	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
21	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
22	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
23	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
24	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
25	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
26	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
27	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248777	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000271544	chromatin interactions

Extended variants
information (count: 975 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11947517	chr4:10209251-10209252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs386671621	chr4:10209252-10209253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184987893	chr4:10209257-10209258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201071922	chr4:10209260-10209261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575990772	chr4:10209294-10209295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543426789	chr4:10209302-10209303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148335441	chr4:10209304-10209305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532445968	chr4:10209325-10209326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79194603	chr4:10209332-10209333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141236045	chr4:10209350-10209351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189597659	chr4:10209351-10209352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549097678	chr4:10209366-10209367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80100173	chr4:10209406-10209407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563601767	chr4:10209429-10209430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7657575	chr4:10209430-10209431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550154313	chr4:10209454-10209455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530502702	chr4:10209479-10209480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553211592	chr4:10209488-10209489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539381392	chr4:10209521-10209522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76612314	chr4:10209522-10209523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138177097	chr4:10209527-10209528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536827169	chr4:10209531-10209532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75451410	chr4:10209547-10209548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7689526	chr4:10209573-10209574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7689529	chr4:10209576-10209577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183286355	chr4:10209616-10209617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143743981	chr4:10209636-10209637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528174125	chr4:10209637-10209638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73222538	chr4:10209664-10209665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559205696	chr4:10209668-10209669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566155747	chr4:10209682-10209683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs578085972	chr4:10209702-10209703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536880469	chr4:10209736-10209737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147226844	chr4:10209791-10209792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545203810	chr4:10209795-10209796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549997589	chr4:10209799-10209800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188604267	chr4:10209806-10209807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570057190	chr4:10209822-10209823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73092190	chr4:10209836-10209837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532531063	chr4:10209848-10209849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548145219	chr4:10209864-10209865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76696560	chr4:10209873-10209874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1107760	chr4:10209876-10209877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536897994	chr4:10209884-10209885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28378345	chr4:10209897-10209898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559961294	chr4:10209915-10209916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192087468	chr4:10209953-10209954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4697975	chr4:10209966-10209967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558347352	chr4:10209968-10209969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576464943	chr4:10209989-10209990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10207800-10210000	Enhancers	HSMMtube	muscle
3	chr4:10207800-10214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:10208400-10211200	Weak transcription	K562	blood
5	chr4:10211200-10212200	Enhancers	K562	blood
6	chr4:10212000-10212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:10212000-10212200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:10212000-10212400	Enhancers	HUVEC	blood vessel
9	chr4:10212200-10214800	Weak transcription	K562	blood
10	chr4:10212400-10213600	Weak transcription	HUVEC	blood vessel
11	chr4:10213600-10214200	Enhancers	HUVEC	blood vessel
12	chr4:10213600-10214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:10213600-10215000	Enhancers	NHEK	skin
14	chr4:10213800-10214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:10214000-10215000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:10214600-10215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:10214800-10215400	Enhancers	K562	blood
18	chr4:10215200-10215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:10215400-10219400	Weak transcription	K562	blood
20	chr4:10215600-10216200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:10216200-10220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:10219400-10220000	Enhancers	K562	blood
23	chr4:10220000-10222400	Weak transcription	K562	blood
24	chr4:10222400-10223400	Enhancers	K562	blood
25	chr4:10223400-10233800	Weak transcription	K562	blood
26	chr4:10225800-10227600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:10226000-10227400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr4:10226400-10227000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:10228000-10228400	Enhancers	Osteobl	bone
30	chr4:10228000-10229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:10228200-10229000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
33	chr4:10233800-10234600	Enhancers	K562	blood
34	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:10234600-10238600	Weak transcription	K562	blood

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