Variant report

Variant	esv3464800
Chromosome Location	chr4:15640253-15642440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15639836..15641917-chr4:15654767..15657580,3	K562	blood:
2	chr4:15638821..15642037-chr4:15654372..15658464,4	MCF-7	breast:
3	chr4:15639542..15641253-chr4:15682901..15685078,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	chromatin interactions
ENSG00000237765	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552061828	chr4:15640257-15640258	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201367660	chr4:15640270-15640271	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368221032	chr4:15640306-15640307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs202175986	chr4:15640335-15640336	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377172431	chr4:15640340-15640341	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371952494	chr4:15640359-15640360	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534553068	chr4:15640399-15640400	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554217138	chr4:15640400-15640401	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199906374	chr4:15640406-15640407	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186515841	chr4:15640448-15640449	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115750485	chr4:15640461-15640462	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576508315	chr4:15640476-15640477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577847454	chr4:15640488-15640489	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565620162	chr4:15640516-15640517	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs4698404	chr4:15640526-15640527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs113604523	chr4:15640531-15640532	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs190491247	chr4:15640569-15640570	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs4698405	chr4:15640577-15640578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4698406	chr4:15640617-15640618	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs549848860	chr4:15640622-15640623	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs10012838	chr4:15640643-15640644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562514856	chr4:15640645-15640646	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377444688	chr4:15640648-15640649	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552049679	chr4:15640655-15640656	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139375598	chr4:15640680-15640681	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534494372	chr4:15640695-15640696	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs55885788	chr4:15640728-15640729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548046921	chr4:15640744-15640745	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377452589	chr4:15640745-15640746	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565020279	chr4:15640774-15640775	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113796811	chr4:15640775-15640776	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs183058994	chr4:15640796-15640797	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs35311894	chr4:15640830-15640831	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148748082	chr4:15640869-15640870	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576498264	chr4:15640891-15640892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs545746047	chr4:15640896-15640897	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs186298649	chr4:15640918-15640919	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200103107	chr4:15640958-15640959	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs12651550	chr4:15641018-15641019	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs144580242	chr4:15641030-15641031	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561275933	chr4:15641034-15641035	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567809766	chr4:15641102-15641103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs191162322	chr4:15641138-15641139	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs114048884	chr4:15641206-15641207	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147877917	chr4:15641243-15641244	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141437597	chr4:15641260-15641261	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531959110	chr4:15641267-15641268	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551788701	chr4:15641271-15641272	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558940283	chr4:15641323-15641324	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528346544	chr4:15641383-15641384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
6	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
7	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
9	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:15625800-15642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:15626400-15646000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:15627400-15645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:15627400-15650000	Weak transcription	Fetal Heart	heart
19	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:15627400-15652400	Weak transcription	Fetal Brain Male	brain
21	chr4:15627600-15645600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:15627600-15646800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:15627600-15650200	Weak transcription	Right Ventricle	heart
24	chr4:15628000-15640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:15628000-15655600	Weak transcription	Lung	lung
26	chr4:15628200-15645800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:15629600-15650400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:15631200-15644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:15633400-15642000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:15633400-15643800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:15633400-15643800	Strong transcription	Fetal Intestine Large	intestine
32	chr4:15633600-15643400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:15633600-15643600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr4:15633600-15646400	Strong transcription	Fetal Thymus	thymus
35	chr4:15633800-15642400	Strong transcription	Liver	Liver
36	chr4:15634000-15642400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:15634000-15643600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:15634000-15643800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:15634200-15644400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:15634600-15642600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr4:15634600-15642600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:15634600-15643400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:15634600-15643600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:15634600-15646600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr4:15634800-15643600	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:15635000-15644000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:15635000-15644400	Strong transcription	Osteobl	bone
48	chr4:15635000-15647000	Strong transcription	HSMM	muscle
49	chr4:15635200-15643800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:15635400-15643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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