Variant report

Variant	esv3408883
Chromosome Location	chr4:9874554-9878952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs187683075	chr4:9874623-9874624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192703365	chr4:9874692-9874693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141354936	chr4:9874705-9874706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150811160	chr4:9874720-9874721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573690640	chr4:9874811-9874812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543107817	chr4:9874817-9874818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573605162	chr4:9874841-9874842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577314693	chr4:9874848-9874849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374464709	chr4:9874851-9874852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564678582	chr4:9874852-9874853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115894471	chr4:9874910-9874911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556101644	chr4:9874966-9874967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577598014	chr4:9874994-9874995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185703795	chr4:9875022-9875023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560062448	chr4:9875029-9875030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137896473	chr4:9875075-9875076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542422181	chr4:9875076-9875077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113332757	chr4:9875089-9875090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190484715	chr4:9875108-9875109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145963297	chr4:9875145-9875146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567791967	chr4:9875177-9875178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569220287	chr4:9875229-9875230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533212928	chr4:9875250-9875251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552101465	chr4:9875306-9875307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192118355	chr4:9875311-9875312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6855445	chr4:9875324-9875325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534351480	chr4:9875363-9875364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139763983	chr4:9875378-9875379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556014381	chr4:9875431-9875432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567788147	chr4:9875434-9875435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146565860	chr4:9875445-9875446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530211425	chr4:9875446-9875447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184245819	chr4:9875467-9875468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139877742	chr4:9875472-9875473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557126751	chr4:9875495-9875496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188611848	chr4:9875530-9875531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34521081	chr4:9875577-9875578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544606636	chr4:9875587-9875588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368960343	chr4:9875598-9875599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181311475	chr4:9875689-9875690	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111467650	chr4:9875734-9875735	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146123527	chr4:9875751-9875752	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs116459080	chr4:9875776-9875777	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186427010	chr4:9875797-9875798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs116628257	chr4:9875798-9875799	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189362274	chr4:9875808-9875809	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs180713341	chr4:9875809-9875810	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567137790	chr4:9875857-9875858	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs58255848	chr4:9875872-9875873	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538255287	chr4:9875873-9875874	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9845000-9874800	Weak transcription	NHEK	skin
2	chr4:9862600-9880400	Weak transcription	HMEC	breast
3	chr4:9862600-9883000	Weak transcription	Esophagus	oesophagus
4	chr4:9862800-9880000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:9862800-9887400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:9863600-9887600	Weak transcription	Liver	Liver
7	chr4:9864800-9877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:9865800-9876200	Strong transcription	HepG2	liver
9	chr4:9867000-9876400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:9867800-9876400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:9869800-9874800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:9870000-9878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:9871000-9880800	Weak transcription	Ovary	ovary
14	chr4:9872000-9876000	Weak transcription	Aorta	Aorta
15	chr4:9872200-9876400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:9872400-9875000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:9873200-9875000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:9873600-9874800	Enhancers	Fetal Brain Male	brain
19	chr4:9874800-9875800	Strong transcription	NHEK	skin
20	chr4:9874800-9876200	Weak transcription	Fetal Brain Male	brain
21	chr4:9874800-9876400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:9875000-9875600	Strong transcription	Fetal Intestine Small	intestine
23	chr4:9875000-9876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:9875600-9876200	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr4:9875800-9880800	Weak transcription	NHEK	skin
26	chr4:9876000-9876400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:9876000-9876400	ZNF genes & repeats	Aorta	Aorta
28	chr4:9876200-9879200	Weak transcription	HepG2	liver
29	chr4:9876200-9879400	Weak transcription	Fetal Intestine Small	intestine
30	chr4:9876400-9877000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:9876400-9877000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:9876400-9879800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:9876400-9880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:9876400-9881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:9877000-9877400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:9877000-9878000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:9877000-9878200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr4:9877200-9877600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:9877400-9879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:9877600-9877800	Weak transcription	Aorta	Aorta
41	chr4:9877600-9877800	Enhancers	Fetal Heart	heart
42	chr4:9877800-9882600	Weak transcription	Fetal Heart	heart
43	chr4:9877800-9890000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:9878000-9879200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr4:9878200-9880200	Weak transcription	Primary monocytes fromperipheralblood	blood

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