Variant report

Variant	esv3327460
Chromosome Location	chr15:93462575-93462985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:93462682-93462939	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:93461980-93462607	K562	blood:	n/a	n/a
3	POLR2A	chr15:93462947-93463000	MCF-7	breast:	n/a	n/a
4	POLR2A	chr15:93462866-93463481	U87	brain:	n/a	n/a
5	POLR2A	chr15:93462866-93463633	U87	brain:	n/a	n/a
6	POLR2A	chr15:93462854-93466503	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:93462946-93466287	A549	lung:	n/a	n/a
8	POLR2A	chr15:93462391-93462579	K562	blood:	n/a	n/a
9	POLR2A	chr15:93462580-93463557	K562	blood:	n/a	n/a
10	POLR2A	chr15:93462943-93462946	MCF-7	breast:	n/a	n/a
11	POLR2A	chr15:93462648-93463176	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93339719..93342145-chr15:93460930..93462920,3	MCF-7	breast:
2	chr15:93345806..93348640-chr15:93462884..93464595,2	K562	blood:
3	chr15:93347226..93350141-chr15:93462968..93465327,2	MCF-7	breast:
4	chr15:93459389..93462852-chr15:93472444..93474181,3	K562	blood:
5	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
6	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
7	chr15:93461235..93463110-chr15:93467839..93470762,2	K562	blood:
8	chr15:93461610..93464401-chr15:93531914..93533700,2	K562	blood:
9	chr15:93360172..93364704-chr15:93459982..93465049,6	MCF-7	breast:
10	chr15:93460439..93463062-chr15:93468763..93470874,2	MCF-7	breast:
11	chr15:93459868..93463900-chr15:93464643..93468863,9	K562	blood:
12	chr15:93350620..93356582-chr15:93455419..93466792,23	MCF-7	breast:

No data

Variant related genes	Relation type
CHD2	TF binding region
ENSG00000173575	chromatin interactions
ENSG00000258527	chromatin interactions
ENSG00000258922	chromatin interactions
ENSG00000185442	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146482510	chr15:93462605-93462606	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs200836638	chr15:93462616-93462617	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs62023122	chr15:93462641-93462642	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs576724761	chr15:93462679-93462680	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs545696861	chr15:93462686-93462687	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs562415320	chr15:93462691-93462692	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs531418628	chr15:93462735-93462736	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs547967634	chr15:93462762-93462763	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs150159594	chr15:93462809-93462810	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs527775648	chr15:93462844-93462845	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs71412587	chr15:93462880-93462881	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs7175134	chr15:93462935-93462936	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570826451	chr15:93462941-93462942	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs7173103	chr15:93462960-93462961	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs550509009	chr15:93462973-93462974	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93451800-93464000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:93454000-93464000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:93455600-93464400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:93455600-93464800	Weak transcription	Fetal Brain Female	brain
5	chr15:93457000-93489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:93457200-93464000	Weak transcription	Gastric	stomach
7	chr15:93457800-93464200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:93458200-93463600	Weak transcription	Small Intestine	intestine
9	chr15:93458400-93463600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:93459600-93463000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:93459800-93463600	Enhancers	Primary T cells from cord blood	blood
12	chr15:93460000-93462800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:93460000-93464000	Weak transcription	Right Ventricle	heart
14	chr15:93460000-93464200	Weak transcription	Esophagus	oesophagus
15	chr15:93460000-93464200	Weak transcription	Spleen	Spleen
16	chr15:93460400-93462600	Enhancers	Fetal Intestine Large	intestine
17	chr15:93460600-93462600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:93460600-93466400	Genic enhancers	Fetal Intestine Small	intestine
19	chr15:93460800-93463600	Weak transcription	Fetal Muscle Leg	muscle
20	chr15:93460800-93464000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:93460800-93464000	Weak transcription	Pancreas	Pancrea
22	chr15:93460800-93464200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:93460800-93464400	Weak transcription	Lung	lung
24	chr15:93461000-93463600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:93461000-93464000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:93461200-93462600	Enhancers	Primary B cells from cord blood	blood
27	chr15:93461200-93462600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:93461200-93462600	Weak transcription	Brain Angular Gyrus	brain
29	chr15:93461200-93462600	Enhancers	Duodenum Mucosa	Duodenum
30	chr15:93461200-93462800	Weak transcription	HMEC	breast
31	chr15:93461200-93462800	Enhancers	HSMM	muscle
32	chr15:93461200-93463000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:93461200-93463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:93461200-93463800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr15:93461200-93464000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr15:93461200-93464000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr15:93461200-93464000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:93461200-93464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:93461200-93464200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:93461200-93464800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr15:93461200-93465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:93461200-93465600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:93461200-93465800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr15:93461200-93466600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr15:93461200-93467200	Enhancers	Stomach Mucosa	stomach
46	chr15:93461200-93467400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr15:93461200-93467600	Weak transcription	Fetal Brain Male	brain
48	chr15:93461200-93467600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:93461200-93471600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:93461400-93462800	Weak transcription	Primary monocytes fromperipheralblood	blood

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