Variant report

Variant	esv3323553
Chromosome Location	chr4:15638237-15640097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15638821..15642037-chr4:15654372..15658464,4	MCF-7	breast:
2	chr4:15639542..15641253-chr4:15682901..15685078,2	MCF-7	breast:
3	chr4:15635424..15637202-chr4:15637688..15639779,2	MCF-7	breast:
4	chr4:15639836..15641917-chr4:15654767..15657580,3	K562	blood:

Variant related genes	Relation type
ENSG00000118564	chromatin interactions
ENSG00000237765	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201844741	chr4:15638237-15638238	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374329849	chr4:15638249-15638250	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149599489	chr4:15638256-15638257	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202123802	chr4:15638270-15638271	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201092417	chr4:15638275-15638276	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149057324	chr4:15638310-15638311	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551499613	chr4:15638322-15638323	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200047572	chr4:15638333-15638334	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533754018	chr4:15638362-15638363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188852553	chr4:15638371-15638372	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567174788	chr4:15638411-15638412	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181606910	chr4:15638441-15638442	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184720225	chr4:15638442-15638443	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371751435	chr4:15638457-15638458	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576178141	chr4:15638537-15638538	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562865173	chr4:15638681-15638682	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544829282	chr4:15638714-15638715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557812698	chr4:15638721-15638722	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577677901	chr4:15638772-15638773	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531616811	chr4:15638821-15638822	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143099065	chr4:15638827-15638828	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148188611	chr4:15638836-15638837	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529280437	chr4:15638873-15638874	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543295597	chr4:15638886-15638887	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375602739	chr4:15638900-15638901	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563084592	chr4:15638953-15638954	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551414115	chr4:15639003-15639004	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368378331	chr4:15639031-15639032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189585663	chr4:15639032-15639033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531912776	chr4:15639119-15639120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6827406	chr4:15639171-15639172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs75410879	chr4:15639219-15639220	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527354776	chr4:15639291-15639292	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547520732	chr4:15639298-15639299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567216894	chr4:15639362-15639363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141131011	chr4:15639369-15639370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76523655	chr4:15639430-15639431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556423015	chr4:15639490-15639491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200999923	chr4:15639518-15639519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11942094	chr4:15639525-15639526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10711266	chr4:15639526-15639527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs397879128	chr4:15639527-15639528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558299692	chr4:15639528-15639529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75505513	chr4:15639539-15639540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571912582	chr4:15639578-15639579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181598293	chr4:15639627-15639628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540289711	chr4:15639705-15639706	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142390083	chr4:15639717-15639718	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368684589	chr4:15639722-15639723	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573974056	chr4:15639756-15639757	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 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:170 , 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	chr4:15622400-15639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
10	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:15625800-15642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:15626400-15646000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:15627400-15645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:15627400-15650000	Weak transcription	Fetal Heart	heart
21	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:15627400-15652400	Weak transcription	Fetal Brain Male	brain
23	chr4:15627600-15645600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:15627600-15646800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:15627600-15650200	Weak transcription	Right Ventricle	heart
26	chr4:15628000-15640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:15628000-15655600	Weak transcription	Lung	lung
28	chr4:15628200-15645800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:15629600-15650400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:15631000-15640000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:15631200-15644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:15633400-15642000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:15633400-15643800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:15633400-15643800	Strong transcription	Fetal Intestine Large	intestine
35	chr4:15633600-15643400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:15633600-15643600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:15633600-15646400	Strong transcription	Fetal Thymus	thymus
38	chr4:15633800-15642400	Strong transcription	Liver	Liver
39	chr4:15634000-15642400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:15634000-15643600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:15634000-15643800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:15634200-15644400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:15634600-15642600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr4:15634600-15642600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:15634600-15643400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:15634600-15643600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:15634600-15646600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr4:15634800-15639000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr4:15634800-15643600	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:15635000-15644000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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