Variant report

Variant	esv3323804
Chromosome Location	chr4:9745354-9749852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 315 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551088929	chr4:9745354-9745355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1818670	chr4:9745390-9745391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184577637	chr4:9745425-9745426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140163003	chr4:9745436-9745437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567124934	chr4:9745456-9745457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73806121	chr4:9745494-9745495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7671802	chr4:9745503-9745504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145840649	chr4:9745522-9745523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538091052	chr4:9745524-9745525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368585005	chr4:9745543-9745544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376745987	chr4:9745546-9745547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538602752	chr4:9745553-9745554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553506272	chr4:9745560-9745561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572267272	chr4:9745580-9745581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189799772	chr4:9745581-9745582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561211729	chr4:9745582-9745583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138320802	chr4:9745583-9745584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543674472	chr4:9745617-9745618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562975554	chr4:9745619-9745620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531928304	chr4:9745641-9745642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191462078	chr4:9745643-9745644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368895175	chr4:9745646-9745647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2867355	chr4:9745671-9745672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183546478	chr4:9745681-9745682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2867356	chr4:9745685-9745686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2867357	chr4:9745688-9745689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189458056	chr4:9745694-9745695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527932866	chr4:9745696-9745697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372655376	chr4:9745700-9745701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2867358	chr4:9745714-9745715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567653488	chr4:9745716-9745717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2867359	chr4:9745722-9745723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181771425	chr4:9745730-9745731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550130962	chr4:9745740-9745741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187054766	chr4:9745741-9745742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2867360	chr4:9745762-9745763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553684339	chr4:9745792-9745793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2867361	chr4:9745810-9745811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2867362	chr4:9745815-9745816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2867363	chr4:9745818-9745819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2867364	chr4:9745819-9745820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189804559	chr4:9745846-9745847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536290854	chr4:9745850-9745851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368964462	chr4:9745855-9745856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554886687	chr4:9745873-9745874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373476233	chr4:9745876-9745877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576430550	chr4:9745889-9745890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143067626	chr4:9745910-9745911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7677159	chr4:9745919-9745920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181408248	chr4:9745923-9745924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9737400-9747400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:9739000-9747400	Weak transcription	Fetal Heart	heart
3	chr4:9744600-9745400	Enhancers	Fetal Intestine Small	intestine
4	chr4:9744600-9747400	Weak transcription	Pancreas	Pancrea
5	chr4:9744800-9747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:9745600-9746000	Enhancers	Fetal Thymus	thymus
7	chr4:9747400-9747600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:9747400-9747600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr4:9747400-9747800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:9747400-9747800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:9747400-9747800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:9747400-9747800	ZNF genes & repeats	Fetal Heart	heart
13	chr4:9747400-9747800	Active TSS	Gastric	stomach
14	chr4:9747400-9747800	Genic enhancers	Pancreas	Pancrea
15	chr4:9747400-9748000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:9747400-9748000	ZNF genes & repeats	Fetal Kidney	kidney
17	chr4:9747800-9748200	Weak transcription	Pancreas	Pancrea
18	chr4:9747800-9755400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:9748000-9748400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links