Variant report

Variant	esv3409821
Chromosome Location	chr4:10342254-10345652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10181069..10182933-chr4:10345413..10347984,3	K562	blood:
2	chr4:10326438..10329327-chr4:10340874..10342507,2	K562	blood:
3	chr4:10344224..10346031-chr4:10349047..10351434,2	K562	blood:
4	chr4:10338266..10339875-chr4:10342241..10344480,2	K562	blood:
5	chr4:10332430..10334686-chr4:10341439..10343470,2	K562	blood:
6	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
7	chr4:10335172..10337427-chr4:10343892..10346196,2	K562	blood:

Extended variants
information (count: 225 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181722936	chr4:10342254-10342255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572998635	chr4:10342255-10342256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148719770	chr4:10342264-10342265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539159956	chr4:10342294-10342295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559995484	chr4:10342324-10342325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370549946	chr4:10342327-10342328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553977112	chr4:10342336-10342337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201019418	chr4:10342343-10342344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55759538	chr4:10342344-10342345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs33979454	chr4:10342345-10342346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114499179	chr4:10342346-10342347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62286733	chr4:10342356-10342357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs186040383	chr4:10342384-10342385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532049103	chr4:10342402-10342403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190455298	chr4:10342419-10342420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182657355	chr4:10342422-10342423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542553928	chr4:10342490-10342491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527857488	chr4:10342493-10342494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371347369	chr4:10342518-10342519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141444232	chr4:10342539-10342540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567851317	chr4:10342546-10342547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188184330	chr4:10342571-10342572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549882793	chr4:10342602-10342603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571686160	chr4:10342614-10342615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191076941	chr4:10342616-10342617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554287359	chr4:10342661-10342662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566226303	chr4:10342675-10342676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375499402	chr4:10342702-10342703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554759020	chr4:10342706-10342707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150857336	chr4:10342715-10342716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10938761	chr4:10342723-10342724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558095076	chr4:10342741-10342742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139130044	chr4:10342808-10342809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530968232	chr4:10342835-10342836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200892821	chr4:10342849-10342850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540651717	chr4:10342876-10342877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374441041	chr4:10342881-10342882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559017879	chr4:10342887-10342888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576164128	chr4:10342894-10342895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182926343	chr4:10342923-10342924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562363494	chr4:10342926-10342927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114300108	chr4:10342927-10342928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368186695	chr4:10342930-10342931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561554804	chr4:10342933-10342934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80266513	chr4:10342938-10342939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550482307	chr4:10342947-10342948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145221380	chr4:10342968-10342969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532549697	chr4:10342979-10342980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187461137	chr4:10342991-10342992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558600042	chr4:10342997-10342998	Weak transcription	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10337400-10343000	Weak transcription	K562	blood
2	chr4:10338800-10346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:10339200-10346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:10339400-10346800	Weak transcription	NHEK	skin
5	chr4:10339800-10345400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:10340000-10346400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:10343000-10343400	Enhancers	K562	blood
8	chr4:10343400-10345800	Weak transcription	K562	blood
9	chr4:10345200-10346000	Enhancers	HMEC	breast
10	chr4:10345400-10345800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:10345400-10348600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links