Variant report

Variant	nsv967990
Chromosome Location	chr4:48037803-48041600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48040732..48041262-chr4:48049418..48050146,3	MCF-7	breast:
2	chr4:48040732..48041255-chr4:48049418..48050146,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200547260	chr4:48037806-48037807	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs375581955	chr4:48037883-48037884	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs563604372	chr4:48037899-48037900	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs201050376	chr4:48037925-48037926	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs13116684	chr4:48037926-48037927	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs199649354	chr4:48037943-48037944	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs141092287	chr4:48037945-48037946	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs139728635	chr4:48037948-48037949	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs117900528	chr4:48037967-48037968	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs201617992	chr4:48037975-48037976	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs374168487	chr4:48037984-48037985	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs377608888	chr4:48037997-48037998	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs371646385	chr4:48038003-48038004	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200599664	chr4:48038004-48038005	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111616491	chr4:48038020-48038021	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368067142	chr4:48038081-48038082	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114576498	chr4:48038082-48038083	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73149642	chr4:48038098-48038099	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148736350	chr4:48038111-48038112	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186888355	chr4:48038160-48038161	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142281486	chr4:48038163-48038164	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150999020	chr4:48038172-48038173	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113721509	chr4:48038194-48038195	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374561692	chr4:48038203-48038204	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs367807114	chr4:48038209-48038210	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200923080	chr4:48038229-48038230	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs369597411	chr4:48038239-48038240	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113992775	chr4:48038246-48038247	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542354940	chr4:48038268-48038269	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561931647	chr4:48038289-48038290	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10805163	chr4:48038379-48038380	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs557526929	chr4:48038410-48038411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566200801	chr4:48038418-48038419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533680737	chr4:48038433-48038434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374979578	chr4:48038446-48038447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551796235	chr4:48038535-48038536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570102342	chr4:48038543-48038544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367632875	chr4:48038563-48038564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10938519	chr4:48038584-48038585	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs530761775	chr4:48038677-48038678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11722463	chr4:48038716-48038717	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs534485591	chr4:48038727-48038728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553144943	chr4:48038789-48038790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369758097	chr4:48038825-48038826	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs577817101	chr4:48038843-48038844	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372511800	chr4:48038851-48038852	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116559360	chr4:48038871-48038872	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190732866	chr4:48038892-48038893	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574248787	chr4:48038944-48038945	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs183266903	chr4:48038957-48038958	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48043600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
3	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
4	chr4:48024600-48043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:48026800-48045400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:48028200-48040800	Weak transcription	Gastric	stomach
7	chr4:48028200-48042600	Weak transcription	Placenta	Placenta
8	chr4:48031600-48041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:48032800-48045000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:48033000-48045000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:48034000-48038600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:48034200-48049600	Weak transcription	Pancreas	Pancrea
13	chr4:48034400-48039400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:48034800-48039200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:48034800-48041600	Strong transcription	HMEC	breast
16	chr4:48035000-48038000	Strong transcription	NHEK	skin
17	chr4:48035000-48039000	Weak transcription	Hela-S3	cervix
18	chr4:48035200-48038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:48035800-48040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:48036000-48038400	Weak transcription	Fetal Heart	heart
21	chr4:48036000-48040400	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:48036200-48040000	Weak transcription	HepG2	liver
23	chr4:48036200-48041000	Enhancers	Primary B cells from cord blood	blood
24	chr4:48036400-48038000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:48036400-48038400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:48036400-48046400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:48036600-48038200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:48036600-48040400	Weak transcription	Fetal Intestine Small	intestine
29	chr4:48036800-48038000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr4:48036800-48038200	Strong transcription	Liver	Liver
31	chr4:48036800-48038400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:48037000-48039000	Strong transcription	Fetal Intestine Large	intestine
33	chr4:48037000-48039800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:48037400-48038000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:48037600-48038000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:48037600-48038200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:48037800-48038000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
38	chr4:48037800-48038400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:48037800-48038600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:48037800-48039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:48037800-48039600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:48038000-48038400	Flanking Active TSS	GM12878-XiMat	blood
43	chr4:48038000-48039000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:48038000-48039000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:48038000-48042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:48038000-48044600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:48038000-48044800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:48038000-48047800	Weak transcription	NHEK	skin
49	chr4:48038200-48039000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr4:48038200-48040200	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links