Variant report

Variant	esv1002462
Chromosome Location	chr15:77844600-77844635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77842609..77845174-chr8:144895503..144897609,2	MCF-7	breast:
2	chr15:77837146..77840341-chr15:77840841..77844639,4	K562	blood:
3	chr15:77840852..77845440-chr15:77846808..77850692,5	K562	blood:

Variant related genes	Relation type
ENSG00000180900	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12914300	chr15:77844600-77844601	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs61305052	chr15:77844608-77844609	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192525604	chr15:77844625-77844626	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112637747	chr15:77844626-77844627	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12913899	chr15:77844635-77844636	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77827000-77845400	Weak transcription	Fetal Kidney	kidney
2	chr15:77829400-77844800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:77836200-77846600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:77838600-77849800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:77838800-77849000	Weak transcription	Gastric	stomach
6	chr15:77839800-77846400	Weak transcription	Fetal Heart	heart
7	chr15:77840600-77848600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:77840800-77845200	Enhancers	Placenta	Placenta
9	chr15:77841400-77846600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:77841600-77844600	Weak transcription	Brain Anterior Caudate	brain
11	chr15:77841600-77844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:77841600-77845400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:77841600-77845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:77841600-77846000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr15:77841600-77846800	Weak transcription	Spleen	Spleen
16	chr15:77841600-77847000	Weak transcription	Fetal Brain Female	brain
17	chr15:77841600-77849600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:77842200-77844600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:77842200-77844600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:77842200-77850200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr15:77842800-77850400	Enhancers	Brain Hippocampus Middle	brain
22	chr15:77843000-77845000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr15:77843400-77846400	Weak transcription	Fetal Stomach	stomach
24	chr15:77843600-77844800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:77843600-77846200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:77843800-77844800	Weak transcription	Brain Angular Gyrus	brain
27	chr15:77843800-77844800	Weak transcription	Brain Substantia Nigra	brain
28	chr15:77843800-77845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:77843800-77846000	Bivalent Enhancer	HepG2	liver
30	chr15:77843800-77847400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:77844000-77846000	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:77844000-77846600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:77844200-77844600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:77844400-77844600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:77844400-77844800	Enhancers	Stomach Mucosa	stomach
36	chr15:77844400-77845000	Enhancers	Duodenum Mucosa	Duodenum
37	chr15:77844400-77845000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr15:77844400-77846600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:77844400-77848400	Weak transcription	Fetal Intestine Small	intestine
40	chr15:77844400-77850200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:77844600-77844800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:77844600-77845200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:77844600-77845200	Enhancers	Brain Cingulate Gyrus	brain
44	chr15:77844600-77850000	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links