Variant report

Variant	nsv1006591
Chromosome Location	chr4:49034925-49065969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:49061609..49064062-chr4:49065907..49068777,2	K562	blood:
2	chr4:49061609..49064062-chr4:49065907..49068777,2	K562	blood:
3	chr1:55352442..55353197-chr4:49034365..49034935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242396	chromatin interactions
ENSG00000116133	chromatin interactions

Extended variants
information (count: 1206 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1206 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150035785	chr4:49034932-49034933	Active TSS Strong transcription Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs528320343	chr4:49034933-49034934	Active TSS Strong transcription Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546508789	chr4:49034935-49034936	Active TSS Strong transcription Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369139084	chr4:49034950-49034951	Active TSS Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532236743	chr4:49034955-49034956	Active TSS Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550649866	chr4:49035002-49035003	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376391979	chr4:49035046-49035047	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79630816	chr4:49035049-49035050	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112566109	chr4:49035102-49035103	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536357624	chr4:49035109-49035110	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115627556	chr4:49035122-49035123	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566496096	chr4:49035171-49035172	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57949477	chr4:49035212-49035213	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535300690	chr4:49035221-49035222	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147589976	chr4:49035284-49035285	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73817749	chr4:49035298-49035299	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145781880	chr4:49035366-49035367	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79416647	chr4:49035373-49035374	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74492866	chr4:49035394-49035395	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138623876	chr4:49035425-49035426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190980441	chr4:49035432-49035433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554512899	chr4:49035471-49035472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76816844	chr4:49035487-49035488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183549072	chr4:49035488-49035489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372893651	chr4:49035493-49035494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186785752	chr4:49035498-49035499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190796717	chr4:49035660-49035661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148817306	chr4:49035664-49035665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545093309	chr4:49035672-49035673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116599762	chr4:49035689-49035690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111763958	chr4:49035703-49035704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78111824	chr4:49035818-49035819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59072736	chr4:49035840-49035841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527310299	chr4:49035865-49035866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141758796	chr4:49035880-49035881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150549522	chr4:49035933-49035934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539326559	chr4:49035970-49035971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183112107	chr4:49036010-49036011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575216707	chr4:49036041-49036042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569453234	chr4:49036052-49036053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188047136	chr4:49036057-49036058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554674436	chr4:49036065-49036066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572900164	chr4:49036126-49036127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138327434	chr4:49036133-49036134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558921152	chr4:49036167-49036168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577018211	chr4:49036220-49036221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2768973	chr4:49036290-49036291	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs192965295	chr4:49036299-49036300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529949720	chr4:49036307-49036308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541923848	chr4:49036333-49036334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49028000-49035200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:49033200-49035800	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr4:49033800-49037000	Weak transcription	Esophagus	oesophagus
4	chr4:49034600-49035000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:49034600-49035200	Enhancers	Liver	Liver
6	chr4:49034600-49035400	Enhancers	HepG2	liver
7	chr4:49034800-49035400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:49035000-49035200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:49035200-49035800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr4:49035400-49051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:49035800-49036200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:49035800-49052800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:49036200-49036800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:49036800-49058800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:49046800-49054000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:49047800-49051400	Weak transcription	Esophagus	oesophagus
17	chr4:49048600-49048800	Enhancers	Lung	lung
18	chr4:49051000-49055400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:49051400-49051800	ZNF genes & repeats	Esophagus	oesophagus
20	chr4:49052800-49053400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr4:49053400-49059000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:49055400-49058800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:49058800-49059600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:49058800-49059600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr4:49059000-49060800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr4:49059600-49064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:49059600-49064200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:49060800-49064800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:49061600-49062200	ZNF genes & repeats	Esophagus	oesophagus
30	chr4:49061600-49062400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:49062000-49064800	Weak transcription	Colonic Mucosa	Colon
32	chr4:49064200-49065000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:49064200-49065000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:49065000-49065200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:49065000-49066600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:49065200-49065400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:49065400-49065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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