Variant report

Variant	nsv436933
Chromosome Location	chr4:10125255-10131932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10121162..10125014-chr4:10131852..10134322,3	MCF-7	breast:
2	chr4:10124769..10127534-chr4:10135159..10136966,2	MCF-7	breast:
3	chr4:10124627..10126326-chr4:10129593..10131682,2	MCF-7	breast:
4	chr4:10118110..10120453-chr4:10131867..10134092,3	MCF-7	breast:
5	chr4:10028896..10030894-chr4:10122706..10125313,2	K562	blood:
6	chr4:10124578..10127302-chr4:10186119..10188725,2	K562	blood:
7	chr4:10126622..10128433-chr4:10132503..10134257,2	MCF-7	breast:
8	chr4:10122708..10125358-chr4:10375421..10377082,2	K562	blood:
9	chr4:10120679..10126916-chr4:10412453..10417013,7	K562	blood:
10	chr4:10124627..10126326-chr4:10129593..10131682,2	MCF-7	breast:
11	chr4:10123771..10125496-chr4:10158100..10160475,2	K562	blood:
12	chr4:10122680..10125562-chr4:10662021..10664504,2	K562	blood:
13	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250613	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000251296	chromatin interactions

Extended variants
information (count: 760 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3886038	chr4:10125255-10125256	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574123218	chr4:10125262-10125263	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112389131	chr4:10125277-10125278	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533570608	chr4:10125281-10125282	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565183814	chr4:10125285-10125286	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560306692	chr4:10125290-10125291	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs115403801	chr4:10125305-10125306	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549040601	chr4:10125306-10125307	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138121361	chr4:10125318-10125319	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537837873	chr4:10125323-10125324	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs4337733	chr4:10125335-10125336	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187668226	chr4:10125343-10125344	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191392935	chr4:10125344-10125345	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200739760	chr4:10125354-10125355	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529892464	chr4:10125357-10125358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4393996	chr4:10125359-10125360	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139807139	chr4:10125361-10125362	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs386671594	chr4:10125364-10125365	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114103701	chr4:10125365-10125366	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534082230	chr4:10125372-10125373	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192313895	chr4:10125384-10125385	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573962502	chr4:10125386-10125387	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544571156	chr4:10125392-10125393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs377616669	chr4:10125397-10125398	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11931413	chr4:10125414-10125415	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs578241744	chr4:10125422-10125423	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11943116	chr4:10125429-10125430	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545701527	chr4:10125435-10125436	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569859871	chr4:10125456-10125457	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs527881528	chr4:10125469-10125470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548845201	chr4:10125489-10125490	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560998072	chr4:10125504-10125505	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146199782	chr4:10125516-10125517	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149560315	chr4:10125531-10125532	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs115674832	chr4:10125535-10125536	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571222234	chr4:10125561-10125562	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62286570	chr4:10125573-10125574	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143262074	chr4:10125593-10125594	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs138601709	chr4:10125601-10125602	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201073387	chr4:10125607-10125608	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532332863	chr4:10125609-10125610	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185212791	chr4:10125612-10125613	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536623964	chr4:10125613-10125614	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139119938	chr4:10125623-10125624	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567721813	chr4:10125624-10125625	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148286613	chr4:10125649-10125650	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371006186	chr4:10125657-10125658	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538258712	chr4:10125662-10125663	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556630275	chr4:10125680-10125681	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs578055799	chr4:10125695-10125696	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10119400-10126200	Enhancers	Fetal Intestine Large	intestine
2	chr4:10119600-10125400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:10119600-10126000	Enhancers	Fetal Stomach	stomach
4	chr4:10119600-10126400	Enhancers	Fetal Intestine Small	intestine
5	chr4:10120000-10127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:10120200-10126800	Enhancers	Fetal Thymus	thymus
7	chr4:10120400-10125400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:10120400-10126200	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:10120600-10125400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:10120600-10127400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:10120800-10125600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:10120800-10127400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:10121600-10126800	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:10121800-10127400	Enhancers	Dnd41	blood
15	chr4:10122600-10125800	Enhancers	Fetal Kidney	kidney
16	chr4:10122600-10126600	Enhancers	Thymus	Thymus
17	chr4:10122800-10126200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:10123000-10125800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:10123000-10126000	Enhancers	Fetal Lung	lung
20	chr4:10123200-10125600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr4:10123200-10126200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:10123400-10126600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:10123400-10127800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr4:10123600-10126400	Enhancers	Placenta	Placenta
25	chr4:10123800-10125800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:10123800-10126600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:10124200-10125800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:10124200-10126200	Enhancers	Lung	lung
29	chr4:10124400-10125400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:10124400-10125600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr4:10124400-10126800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:10124400-10126800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:10124400-10127000	Enhancers	Fetal Muscle Leg	muscle
34	chr4:10124600-10125800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:10124600-10125800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:10124600-10126000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:10124600-10126200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:10124600-10126400	Enhancers	HSMM	muscle
39	chr4:10124600-10126600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr4:10124600-10126600	Enhancers	Fetal Muscle Trunk	muscle
41	chr4:10124600-10126600	Enhancers	Spleen	Spleen
42	chr4:10124600-10128200	Enhancers	Right Ventricle	heart
43	chr4:10124800-10125400	Enhancers	Esophagus	oesophagus
44	chr4:10124800-10125600	Flanking Active TSS	HSMMtube	muscle
45	chr4:10124800-10125800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:10124800-10125800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:10124800-10125800	Enhancers	Brain Anterior Caudate	brain
48	chr4:10124800-10126000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:10124800-10126000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:10124800-10126200	Enhancers	Cortex derived primary cultured neurospheres	brain

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