Variant report

Variant	esv2757036
Chromosome Location	chr4:10126189-10139191
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10133192..10134746-chr4:10556529..10559334,2	K562	blood:
2	chr4:10121162..10125014-chr4:10131852..10134322,3	MCF-7	breast:
3	chr4:10132922..10135214-chr4:10181103..10182859,2	K562	blood:
4	chr4:10137227..10139603-chr4:10183343..10185587,3	K562	blood:
5	chr4:10124627..10126326-chr4:10129593..10131682,2	MCF-7	breast:
6	chr4:10120679..10126916-chr4:10412453..10417013,7	K562	blood:
7	chr4:10117528..10120943-chr4:10131939..10133897,4	MCF-7	breast:
8	chr4:10126622..10128433-chr4:10132503..10134257,2	MCF-7	breast:
9	chr4:10126622..10128433-chr4:10132503..10134257,2	MCF-7	breast:
10	chr4:10137029..10138548-chr4:10444331..10446997,2	K562	blood:
11	chr4:10138009..10140287-chr4:10142395..10145088,2	MCF-7	breast:
12	chr4:10117300..10124855-chr4:10138380..10145377,13	MCF-7	breast:
13	chr4:10124578..10127302-chr4:10186119..10188725,2	K562	blood:
14	chr4:10118110..10120453-chr4:10131867..10134092,3	MCF-7	breast:
15	chr4:10124769..10127534-chr4:10135159..10136966,2	MCF-7	breast:
16	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
17	chr4:10124627..10126326-chr4:10129593..10131682,2	MCF-7	breast:
18	chr4:10124769..10127534-chr4:10135159..10136966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251296	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000250613	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 1056 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11723016	chr4:10126189-10126190	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185291476	chr4:10126198-10126199	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6820009	chr4:10126235-10126236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559329400	chr4:10126242-10126243	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574348675	chr4:10126275-10126276	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542146118	chr4:10126287-10126288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533037619	chr4:10126294-10126295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs73215003	chr4:10126317-10126318	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531090851	chr4:10126335-10126336	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200628054	chr4:10126336-10126337	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142593802	chr4:10126340-10126341	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs75024085	chr4:10126341-10126342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530728141	chr4:10126342-10126343	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552372434	chr4:10126373-10126374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139662558	chr4:10126376-10126377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369978781	chr4:10126397-10126398	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149660051	chr4:10126420-10126421	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541661345	chr4:10126446-10126447	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145477423	chr4:10126467-10126468	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547550164	chr4:10126476-10126477	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566111082	chr4:10126487-10126488	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191041171	chr4:10126491-10126492	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183888550	chr4:10126496-10126497	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373408726	chr4:10126502-10126503	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569990088	chr4:10126506-10126507	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139159435	chr4:10126507-10126508	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558760680	chr4:10126508-10126509	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577002607	chr4:10126515-10126516	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534763870	chr4:10126519-10126520	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10155429	chr4:10126527-10126528	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377092692	chr4:10126533-10126534	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552083965	chr4:10126540-10126541	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111445952	chr4:10126541-10126542	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541413522	chr4:10126546-10126547	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs550546635	chr4:10126548-10126549	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575575479	chr4:10126549-10126550	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201035119	chr4:10126580-10126581	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546101055	chr4:10126595-10126596	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564298802	chr4:10126603-10126604	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543559117	chr4:10126608-10126609	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144057037	chr4:10126620-10126621	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546635127	chr4:10126632-10126633	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568067017	chr4:10126642-10126643	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372288402	chr4:10126659-10126660	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79049092	chr4:10126675-10126676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs559542638	chr4:10126688-10126689	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530132088	chr4:10126689-10126690	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562509634	chr4:10126691-10126692	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536825525	chr4:10126692-10126693	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531137952	chr4:10126694-10126695	Weak transcription Enhancers Bivalent Enhancer	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10119400-10126200	Enhancers	Fetal Intestine Large	intestine
2	chr4:10119600-10126400	Enhancers	Fetal Intestine Small	intestine
3	chr4:10120000-10127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:10120200-10126800	Enhancers	Fetal Thymus	thymus
5	chr4:10120400-10126200	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:10120600-10127400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:10120800-10127400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr4:10121600-10126800	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:10121800-10127400	Enhancers	Dnd41	blood
10	chr4:10122600-10126600	Enhancers	Thymus	Thymus
11	chr4:10122800-10126200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:10123200-10126200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:10123400-10126600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:10123400-10127800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr4:10123600-10126400	Enhancers	Placenta	Placenta
16	chr4:10123800-10126600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr4:10124200-10126200	Enhancers	Lung	lung
18	chr4:10124400-10126800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:10124400-10126800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:10124400-10127000	Enhancers	Fetal Muscle Leg	muscle
21	chr4:10124600-10126200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:10124600-10126400	Enhancers	HSMM	muscle
23	chr4:10124600-10126600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr4:10124600-10126600	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:10124600-10126600	Enhancers	Spleen	Spleen
26	chr4:10124600-10128200	Enhancers	Right Ventricle	heart
27	chr4:10124800-10126200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:10124800-10126200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:10124800-10126400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:10124800-10126400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:10124800-10126600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:10124800-10126600	Enhancers	Adipose Nuclei	Adipose
33	chr4:10124800-10126600	Enhancers	Right Atrium	heart
34	chr4:10125000-10126200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:10125000-10126200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:10125000-10126200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:10125000-10126200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:10125000-10126200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:10125200-10126200	Enhancers	K562	blood
40	chr4:10125200-10126400	Enhancers	Fetal Heart	heart
41	chr4:10125200-10126400	Enhancers	Left Ventricle	heart
42	chr4:10125200-10126600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:10125200-10126600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr4:10125200-10128400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:10125600-10126400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:10125600-10127000	Enhancers	HUVEC	blood vessel
47	chr4:10125800-10126200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:10125800-10126200	Enhancers	HepG2	liver
49	chr4:10125800-10128600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:10125800-10129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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