Variant report

Variant	esv2102930
Chromosome Location	chr15:77910678-77911438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77910678..77912184-chr15:77913729..77916491,2	K562	blood:
2	chr15:77904297..77907501-chr15:77908507..77911725,4	K562	blood:
3	chr15:77835384..77837203-chr15:77911255..77913813,2	MCF-7	breast:
4	chr15:77908000..77910749-chr15:77912406..77914677,2	MCF-7	breast:
5	chr15:77899584..77901870-chr15:77910990..77913716,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564140621	chr15:77910710-77910711	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528154759	chr15:77910724-77910725	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71407216	chr15:77910727-77910728	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149600407	chr15:77910734-77910735	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566135416	chr15:77910794-77910795	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536804861	chr15:77910816-77910817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201173452	chr15:77910861-77910862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548805022	chr15:77910862-77910863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202115346	chr15:77910867-77910868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113081199	chr15:77910873-77910874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139853132	chr15:77910955-77910956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537758405	chr15:77910966-77910967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558664745	chr15:77910971-77910972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577212917	chr15:77910972-77910973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534797969	chr15:77910973-77910974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553390521	chr15:77910976-77910977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574592913	chr15:77910977-77910978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200478976	chr15:77910994-77910995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145845007	chr15:77911091-77911092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556222090	chr15:77911233-77911234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79050119	chr15:77911235-77911236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185955644	chr15:77911293-77911294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370478542	chr15:77911329-77911330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147269504	chr15:77911375-77911376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546108345	chr15:77911386-77911387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373806983	chr15:77911387-77911388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569830110	chr15:77911403-77911404	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539859264	chr15:77911404-77911405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368762267	chr15:77911431-77911432	Weak transcription Strong transcription Enhancers	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77901000-77914200	Weak transcription	Right Atrium	heart
2	chr15:77901600-77912800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:77903600-77914000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:77904200-77914400	Weak transcription	Brain Substantia Nigra	brain
5	chr15:77904200-77915400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:77904600-77914000	Weak transcription	Fetal Lung	lung
7	chr15:77904800-77914200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:77907600-77914400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:77907800-77912600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:77907800-77912600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:77907800-77912800	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:77907800-77914000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:77907800-77914800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:77908000-77914000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:77908000-77914000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:77908000-77914000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:77908000-77914800	Weak transcription	Fetal Intestine Small	intestine
18	chr15:77908000-77918800	Weak transcription	Brain Germinal Matrix	brain
19	chr15:77908200-77914200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:77908400-77914400	Weak transcription	Spleen	Spleen
21	chr15:77909000-77912600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:77909000-77914800	Weak transcription	Fetal Brain Male	brain
23	chr15:77909200-77913800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:77909200-77914200	Weak transcription	Fetal Stomach	stomach
25	chr15:77909800-77913800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:77909800-77914000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:77910000-77912400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:77910200-77910800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr15:77910200-77914200	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:77910400-77911000	Weak transcription	Fetal Heart	heart
31	chr15:77910400-77912600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:77910400-77912600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:77910400-77912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:77910400-77923400	Weak transcription	Pancreas	Pancrea
35	chr15:77910600-77910800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:77910600-77910800	Enhancers	HepG2	liver
37	chr15:77910600-77911200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:77910600-77911400	Weak transcription	K562	blood
39	chr15:77910600-77912200	Weak transcription	Brain Angular Gyrus	brain
40	chr15:77910600-77912600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:77910600-77916800	Weak transcription	Fetal Brain Female	brain
42	chr15:77910800-77911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:77910800-77912200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:77911000-77912000	Enhancers	Fetal Heart	heart
45	chr15:77911200-77911800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:77911400-77914000	Enhancers	K562	blood

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