Variant report

Variant	esv3336267
Chromosome Location	chr15:77353060-77353697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr15:77352879-77353147	SK-N-SH_RA	brain:	n/a	chr15:77353071-77353085
2	GATA3	chr15:77352726-77353403	SK-N-SH	brain:	n/a	chr15:77353264-77353285
3	NFIC	chr15:77352721-77353426	SK-N-SH	brain:	n/a	n/a
4	NRF1	chr15:77353062-77353252	K562	blood:	n/a	n/a
5	TCF12	chr15:77352735-77353411	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr15:77352790-77353329	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77336838..77340785-chr15:77352977..77355906,3	K562	blood:
2	chr15:77352302..77353897-chr15:77355148..77357991,2	MCF-7	breast:
3	chr15:77351490..77354166-chr15:77358576..77361543,2	MCF-7	breast:
4	chr15:77347571..77351341-chr15:77351834..77354291,4	K562	blood:

Variant related genes	Relation type
TSPAN3	TF binding region
ENSG00000140391	chromatin interactions
ENSG00000269951	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558332368	chr15:77353139-77353140	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs553490817	chr15:77353165-77353166	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574451103	chr15:77353223-77353224	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535531526	chr15:77353256-77353257	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs12148612	chr15:77353257-77353258	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576112560	chr15:77353308-77353309	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138312661	chr15:77353389-77353390	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs180885646	chr15:77353398-77353399	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187240681	chr15:77353490-77353491	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573142838	chr15:77353510-77353511	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533132252	chr15:77353528-77353529	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146812979	chr15:77353529-77353530	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538473645	chr15:77353535-77353536	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540440642	chr15:77353602-77353603	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149459279	chr15:77353610-77353611	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558326249	chr15:77353696-77353697	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	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:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77321200-77362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:77339000-77362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:77339200-77358000	Weak transcription	Colonic Mucosa	Colon
4	chr15:77339400-77359200	Weak transcription	Right Ventricle	heart
5	chr15:77345000-77355200	Weak transcription	HMEC	breast
6	chr15:77345200-77360200	Weak transcription	Spleen	Spleen
7	chr15:77345200-77362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:77345400-77355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:77345400-77361400	Weak transcription	Placenta	Placenta
10	chr15:77346000-77353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:77346600-77358600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:77346600-77359800	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr15:77346600-77361200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:77346800-77356200	Weak transcription	Hela-S3	cervix
15	chr15:77347200-77361600	Weak transcription	Dnd41	blood
16	chr15:77347400-77358600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:77347600-77354400	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:77349000-77357600	Enhancers	Liver	Liver
19	chr15:77349200-77362000	Weak transcription	Lung	lung
20	chr15:77349400-77361000	Weak transcription	Fetal Thymus	thymus
21	chr15:77349600-77353800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:77349600-77354000	Weak transcription	Aorta	Aorta
23	chr15:77349600-77354200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:77349600-77356200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:77349600-77357800	Enhancers	Fetal Intestine Small	intestine
26	chr15:77349600-77358600	Weak transcription	Gastric	stomach
27	chr15:77349600-77362000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:77349800-77354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:77349800-77354400	Enhancers	Fetal Muscle Leg	muscle
30	chr15:77349800-77354600	Enhancers	Fetal Intestine Large	intestine
31	chr15:77350000-77354600	Enhancers	Fetal Stomach	stomach
32	chr15:77350200-77353600	Weak transcription	Right Atrium	heart
33	chr15:77350400-77353800	Enhancers	NHDF-Ad	bronchial
34	chr15:77350400-77354000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:77350400-77354000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:77350400-77354000	Weak transcription	Ovary	ovary
37	chr15:77351000-77354200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:77351000-77361800	Weak transcription	Pancreas	Pancrea
39	chr15:77351200-77356200	Weak transcription	HepG2	liver
40	chr15:77351600-77353400	Enhancers	Stomach Mucosa	stomach
41	chr15:77351600-77355000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr15:77351800-77353200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr15:77351800-77353200	Flanking Active TSS	GM12878-XiMat	blood
44	chr15:77351800-77353400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr15:77351800-77353800	Enhancers	NHLF	lung
46	chr15:77351800-77354400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr15:77351800-77354600	Enhancers	Rectal Smooth Muscle	rectum
48	chr15:77351800-77355000	Enhancers	Brain Hippocampus Middle	brain
49	chr15:77351800-77355000	Enhancers	Colon Smooth Muscle	Colon
50	chr15:77351800-77355600	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links