Variant report

Variant	esv3440466
Chromosome Location	chr15:78006797-78011095
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78006143..78008281-chr15:78009901..78012087,2	K562	blood:
2	chr15:77925750..77926474-chr15:78007678..78008229,2	MCF-7	breast:
3	chr15:78009070..78011036-chr15:78012914..78014777,2	K562	blood:
4	chr15:78008224..78009963-chr15:78011351..78014041,3	MCF-7	breast:
5	chr15:78006143..78008281-chr15:78009901..78012087,2	K562	blood:
6	chr15:78008270..78009842-chr15:78011273..78013230,2	MCF-7	breast:
7	chr15:78006781..78008736-chr15:78010587..78012816,2	K562	blood:
8	chr15:78006781..78008736-chr15:78010587..78012816,2	K562	blood:
9	chr15:73923669..73926089-chr15:78010481..78013463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156642	chromatin interactions
ENSG00000169783	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7175083	chr15:78006842-78006843	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560041262	chr15:78006858-78006859	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs184365817	chr15:78006862-78006863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs189891047	chr15:78006898-78006899	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs56391344	chr15:78006899-78006900	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531358760	chr15:78006908-78006909	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs35124626	chr15:78006916-78006917	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs549481762	chr15:78006920-78006921	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs571332756	chr15:78006933-78006934	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs151319277	chr15:78006968-78006969	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs551955302	chr15:78006981-78006982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs373218137	chr15:78006990-78006991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs566774343	chr15:78007091-78007092	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs140593630	chr15:78007115-78007116	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs555674267	chr15:78007132-78007133	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs35062326	chr15:78007164-78007165	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs573975370	chr15:78007191-78007192	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs150306866	chr15:78007192-78007193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs556243668	chr15:78007205-78007206	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs4076457	chr15:78007213-78007214	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545218854	chr15:78007231-78007232	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs4477663	chr15:78007254-78007255	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs536454086	chr15:78007308-78007309	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs556254912	chr15:78007357-78007358	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs576196747	chr15:78007400-78007401	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs542818954	chr15:78007430-78007431	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs4334265	chr15:78007432-78007433	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs28638334	chr15:78007451-78007452	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549760912	chr15:78007473-78007474	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs564681384	chr15:78007474-78007475	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs137898645	chr15:78007506-78007507	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs143575800	chr15:78007507-78007508	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs565422031	chr15:78007516-78007517	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs145823692	chr15:78007557-78007558	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs549138683	chr15:78007563-78007564	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs567635780	chr15:78007594-78007595	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs181441620	chr15:78007601-78007602	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs79588070	chr15:78007672-78007673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs138839638	chr15:78007676-78007677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs76627792	chr15:78007690-78007691	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs539007730	chr15:78007809-78007810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186538058	chr15:78007848-78007849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73465834	chr15:78007851-78007852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79839930	chr15:78007915-78007916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554762131	chr15:78007934-78007935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189286394	chr15:78008030-78008031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565179647	chr15:78008031-78008032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142788134	chr15:78008113-78008114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540601921	chr15:78008122-78008123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559046037	chr15:78008128-78008129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77969200-78007600	Weak transcription	Right Atrium	heart
2	chr15:78003400-78009600	Weak transcription	Brain Germinal Matrix	brain
3	chr15:78004000-78009800	Weak transcription	Fetal Brain Female	brain
4	chr15:78004600-78007000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78004600-78012000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:78005200-78008800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:78005400-78007800	Enhancers	Fetal Brain Male	brain
8	chr15:78005400-78008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:78006200-78007000	Enhancers	Brain Angular Gyrus	brain
10	chr15:78006400-78013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:78006800-78007000	Enhancers	Brain Anterior Caudate	brain
12	chr15:78006800-78007400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:78007000-78007200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:78007000-78016600	Weak transcription	Brain Angular Gyrus	brain
15	chr15:78007400-78007600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr15:78007400-78007800	Enhancers	HSMMtube	muscle
17	chr15:78007600-78007800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr15:78007800-78008000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr15:78008800-78009400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr15:78008800-78010000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:78009200-78010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:78009200-78010000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr15:78009200-78012000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr15:78009400-78010000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr15:78009400-78010000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:78009400-78010000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr15:78009400-78010200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr15:78009400-78011800	Enhancers	Fetal Brain Male	brain
29	chr15:78009400-78015200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:78009600-78009800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:78009600-78009800	Enhancers	Brain Germinal Matrix	brain
32	chr15:78009800-78010000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:78009800-78010200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr15:78009800-78010200	Enhancers	Fetal Brain Female	brain
35	chr15:78009800-78012200	Weak transcription	Brain Germinal Matrix	brain
36	chr15:78010000-78010200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:78010000-78015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:78010000-78015800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:78010200-78012200	Weak transcription	Fetal Brain Female	brain

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