Variant report

Variant	esv3397887
Chromosome Location	chr4:15837307-15837799
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	chr4:15834749..15838947-chr4:15851334..15854904,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537366951	chr4:15837365-15837366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141149531	chr4:15837377-15837378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150726580	chr4:15837382-15837383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141008931	chr4:15837386-15837387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529984815	chr4:15837396-15837397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144894172	chr4:15837400-15837401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546004223	chr4:15837462-15837463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569802491	chr4:15837497-15837498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55714461	chr4:15837524-15837525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531713974	chr4:15837565-15837566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72616189	chr4:15837587-15837588	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571396102	chr4:15837611-15837612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72616190	chr4:15837631-15837632	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs72616191	chr4:15837638-15837639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558003039	chr4:15837644-15837645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563386821	chr4:15837718-15837719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62290649	chr4:15837733-15837734	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556504374	chr4:15837764-15837765	Weak transcription Strong transcription	n/a	n/a	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15811400-15851200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:15811400-15852200	Weak transcription	Spleen	Spleen
3	chr4:15811800-15842200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:15812200-15840000	Strong transcription	Dnd41	blood
5	chr4:15819200-15853400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:15820600-15842200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:15820600-15844400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:15821200-15841600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:15827600-15841600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:15827600-15841800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:15827600-15853400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:15830000-15843200	Strong transcription	Primary B cells from cord blood	blood
13	chr4:15833200-15843200	Strong transcription	Fetal Thymus	thymus
14	chr4:15834000-15842200	Strong transcription	Thymus	Thymus
15	chr4:15834200-15843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:15834400-15837800	Weak transcription	NHEK	skin
17	chr4:15834600-15837800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:15834600-15837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:15834600-15837800	Weak transcription	HMEC	breast
20	chr4:15834600-15844400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:15834800-15841600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:15834800-15842200	Weak transcription	Left Ventricle	heart
23	chr4:15834800-15851800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:15834800-15852800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:15835000-15838200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:15835000-15857400	Weak transcription	Psoas Muscle	Psoas
27	chr4:15835800-15837800	Weak transcription	Esophagus	oesophagus
28	chr4:15836400-15837800	Weak transcription	Primary T cells from cord blood	blood
29	chr4:15836400-15838800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:15836400-15840800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:15836400-15842200	Weak transcription	GM12878-XiMat	blood
32	chr4:15836600-15841600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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