Variant report

Variant	nsv1013143
Chromosome Location	chr4:10210182-10239285
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
2	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
3	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
4	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
5	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
6	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
7	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
8	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
9	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
10	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
11	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
12	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
13	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
14	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
15	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
16	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
17	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
18	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
19	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
20	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
21	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
22	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
23	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
24	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
25	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
26	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
27	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
28	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
29	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
30	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:

No data

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

Extended variants
information (count: 1124 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1124 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149256305	chr4:10210194-10210195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144476013	chr4:10210227-10210228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148430072	chr4:10210228-10210229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557826565	chr4:10210232-10210233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376064186	chr4:10210233-10210234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138221554	chr4:10210243-10210244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142389255	chr4:10210252-10210253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77504334	chr4:10210255-10210256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146852738	chr4:10210313-10210314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188409044	chr4:10210323-10210324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116041532	chr4:10210330-10210331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570233054	chr4:10210337-10210338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191709770	chr4:10210353-10210354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552560364	chr4:10210354-10210355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73808944	chr4:10210386-10210387	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4697976	chr4:10210390-10210391	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184059128	chr4:10210395-10210396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139724501	chr4:10210403-10210404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186859353	chr4:10210422-10210423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563932105	chr4:10210429-10210430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376373216	chr4:10210441-10210442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528151827	chr4:10210447-10210448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577422828	chr4:10210453-10210454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551855862	chr4:10210461-10210462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541526509	chr4:10210481-10210482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559829637	chr4:10210494-10210495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530017899	chr4:10210503-10210504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7695788	chr4:10210531-10210532	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563842372	chr4:10210533-10210534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531206889	chr4:10210556-10210557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116654591	chr4:10210605-10210606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534777450	chr4:10210606-10210607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191266917	chr4:10210617-10210618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528213144	chr4:10210623-10210624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546397627	chr4:10210624-10210625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546286273	chr4:10210630-10210631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567745719	chr4:10210631-10210632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535093371	chr4:10210638-10210639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185700151	chr4:10210648-10210649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs4697977	chr4:10210653-10210654	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs376184821	chr4:10210697-10210698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539674825	chr4:10210733-10210734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558023131	chr4:10210799-10210800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573069962	chr4:10210808-10210809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535147913	chr4:10210835-10210836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553485567	chr4:10210841-10210842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527348313	chr4:10210863-10210864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574842143	chr4:10210871-10210872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541879294	chr4:10210885-10210886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371067392	chr4:10210906-10210907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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:36 , 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	chr4:10207800-10214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:10208400-10211200	Weak transcription	K562	blood
4	chr4:10211200-10212200	Enhancers	K562	blood
5	chr4:10212000-10212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:10212000-10212200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:10212000-10212400	Enhancers	HUVEC	blood vessel
8	chr4:10212200-10214800	Weak transcription	K562	blood
9	chr4:10212400-10213600	Weak transcription	HUVEC	blood vessel
10	chr4:10213600-10214200	Enhancers	HUVEC	blood vessel
11	chr4:10213600-10214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:10213600-10215000	Enhancers	NHEK	skin
13	chr4:10213800-10214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:10214000-10215000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:10214600-10215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:10214800-10215400	Enhancers	K562	blood
17	chr4:10215200-10215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:10215400-10219400	Weak transcription	K562	blood
19	chr4:10215600-10216200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10216200-10220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:10219400-10220000	Enhancers	K562	blood
22	chr4:10220000-10222400	Weak transcription	K562	blood
23	chr4:10222400-10223400	Enhancers	K562	blood
24	chr4:10223400-10233800	Weak transcription	K562	blood
25	chr4:10225800-10227600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:10226000-10227400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:10226400-10227000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:10228000-10228400	Enhancers	Osteobl	bone
29	chr4:10228000-10229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:10228200-10229000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:10233800-10234600	Enhancers	K562	blood
33	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:10234600-10238600	Weak transcription	K562	blood
35	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:10238600-10241800	Enhancers	K562	blood

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