Variant report

Variant	esv1801192
Chromosome Location	chr15:77664901-77673776
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:
2	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
3	chr15:77673612..77675900-chr15:77720669..77722192,2	K562	blood:
4	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
5	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
6	chr15:77669352..77671536-chr15:77687037..77689234,2	K562	blood:
7	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
8	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:

No data

Extended variants
information (count: 292 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1493699	chr15:77664901-77664902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141000808	chr15:77664930-77664931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559754677	chr15:77664954-77664955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530130959	chr15:77664993-77664994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540501298	chr15:77665017-77665018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188982802	chr15:77665022-77665023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142723955	chr15:77665023-77665024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531078576	chr15:77665031-77665032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181379389	chr15:77665135-77665136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570632405	chr15:77665192-77665193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144774435	chr15:77665207-77665208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371411055	chr15:77665208-77665209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528344850	chr15:77665251-77665252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371165902	chr15:77665265-77665266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546506941	chr15:77665318-77665319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185849069	chr15:77665420-77665421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377012781	chr15:77665423-77665424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535061639	chr15:77665455-77665456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12917347	chr15:77665482-77665483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs369249719	chr15:77665500-77665501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373192029	chr15:77665511-77665512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568849486	chr15:77665522-77665523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539530046	chr15:77665535-77665536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563146990	chr15:77665540-77665541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17385550	chr15:77665547-77665548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541710861	chr15:77665576-77665577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372737323	chr15:77665688-77665689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150716807	chr15:77665702-77665703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542239886	chr15:77665703-77665704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572295473	chr15:77665749-77665750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1389436	chr15:77665848-77665849	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575606644	chr15:77665873-77665874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141720147	chr15:77665936-77665937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139097338	chr15:77665966-77665967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17470307	chr15:77666010-77666011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113141379	chr15:77666030-77666031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546419068	chr15:77666036-77666037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16968807	chr15:77666050-77666051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117130984	chr15:77666074-77666075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189745412	chr15:77666097-77666098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181230927	chr15:77666123-77666124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376737757	chr15:77666131-77666132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117435298	chr15:77666167-77666168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551470391	chr15:77666186-77666187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139900496	chr15:77666214-77666215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113288798	chr15:77666291-77666292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551631925	chr15:77666349-77666350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74025195	chr15:77666360-77666361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186054426	chr15:77666380-77666381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575174552	chr15:77666402-77666403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77637200-77666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
3	chr15:77645800-77665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:77645800-77665800	Weak transcription	Pancreas	Pancrea
5	chr15:77645800-77674000	Weak transcription	Ovary	ovary
6	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
7	chr15:77646800-77666000	Weak transcription	Stomach Mucosa	stomach
8	chr15:77647000-77687200	Weak transcription	A549	lung
9	chr15:77648600-77685800	Weak transcription	Gastric	stomach
10	chr15:77651600-77674000	Weak transcription	Psoas Muscle	Psoas
11	chr15:77656000-77666000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:77656000-77674000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:77656200-77676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:77656400-77665200	Weak transcription	Left Ventricle	heart
15	chr15:77656400-77683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:77656600-77665600	Weak transcription	Fetal Stomach	stomach
17	chr15:77660400-77671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:77662000-77667400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:77662200-77677000	Weak transcription	NHDF-Ad	bronchial
20	chr15:77663000-77680200	Weak transcription	Osteobl	bone
21	chr15:77664000-77665000	Enhancers	Fetal Heart	heart
22	chr15:77664000-77665200	Enhancers	Brain Germinal Matrix	brain
23	chr15:77664200-77665000	Enhancers	Brain Anterior Caudate	brain
24	chr15:77664200-77665200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:77664400-77665000	Enhancers	Brain Cingulate Gyrus	brain
26	chr15:77664400-77665000	Enhancers	Brain Hippocampus Middle	brain
27	chr15:77664400-77665000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr15:77664600-77678200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:77664800-77665000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr15:77665000-77665200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:77665000-77665800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:77665000-77667600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:77665000-77676800	Weak transcription	Fetal Heart	heart
34	chr15:77665200-77666200	Enhancers	Left Ventricle	heart
35	chr15:77665600-77665800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr15:77665600-77666000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:77665800-77666000	Enhancers	Brain Cingulate Gyrus	brain
38	chr15:77665800-77666000	Enhancers	Pancreas	Pancrea
39	chr15:77665800-77666200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:77665800-77671600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:77666000-77666200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:77666200-77669400	Weak transcription	Left Ventricle	heart
43	chr15:77667600-77667800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr15:77667800-77670200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:77668200-77670200	Weak transcription	Fetal Kidney	kidney
46	chr15:77669400-77669600	Genic enhancers	Left Ventricle	heart
47	chr15:77669400-77683400	Weak transcription	Fetal Stomach	stomach
48	chr15:77669600-77669800	Enhancers	Left Ventricle	heart
49	chr15:77669600-77673600	Weak transcription	Right Atrium	heart
50	chr15:77669800-77672400	Weak transcription	Left Ventricle	heart

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