Variant report

Variant	esv12334
Chromosome Location	chr15:83602318-83604788
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:83602779..83607624-chr15:83619045..83622811,4	MCF-7	breast:
2	chr15:83603085..83606427-chr15:83619631..83622766,4	MCF-7	breast:
3	chr15:83564997..83567532-chr15:83604319..83607147,2	MCF-7	breast:
4	chr15:83596164..83597844-chr15:83602191..83603903,2	MCF-7	breast:
5	chr15:83600840..83602836-chr15:83603209..83605770,2	K562	blood:
6	chr15:83604502..83607500-chr15:83609162..83613049,3	K562	blood:
7	chr15:83600840..83602836-chr15:83603209..83605770,2	K562	blood:
8	chr15:83595241..83598969-chr15:83601777..83604663,4	MCF-7	breast:
9	chr15:83602880..83604830-chr15:83654693..83657614,2	MCF-7	breast:
10	chr15:83586563..83590594-chr15:83604214..83607566,4	MCF-7	breast:
11	chr15:83601981..83604800-chr15:83605972..83608317,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103942	chromatin interactions
ENSG00000169612	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189134511	chr15:83602333-83602334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147775473	chr15:83602351-83602352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566656521	chr15:83602414-83602415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535757258	chr15:83602427-83602428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112571599	chr15:83602443-83602444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555587495	chr15:83602453-83602454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141078199	chr15:83602492-83602493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368616600	chr15:83602504-83602505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543788635	chr15:83602540-83602541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557206446	chr15:83602566-83602567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372652340	chr15:83602594-83602595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192229900	chr15:83602595-83602596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143603228	chr15:83602603-83602604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117982746	chr15:83602694-83602695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528618076	chr15:83602712-83602713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374958645	chr15:83602751-83602752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367623548	chr15:83602785-83602786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530458822	chr15:83602826-83602827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12442894	chr15:83602849-83602850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs73451123	chr15:83602865-83602866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533075212	chr15:83602885-83602886	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549824941	chr15:83603007-83603008	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs151008808	chr15:83603008-83603009	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566674471	chr15:83603032-83603033	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs117873966	chr15:83603106-83603107	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs140850613	chr15:83603116-83603117	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182981234	chr15:83603123-83603124	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs537076573	chr15:83603169-83603170	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140461751	chr15:83603174-83603175	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557343590	chr15:83603177-83603178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs75536287	chr15:83603212-83603213	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545897766	chr15:83603226-83603227	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34835907	chr15:83603316-83603317	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs138351764	chr15:83603336-83603337	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs187941671	chr15:83603363-83603364	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542394364	chr15:83603394-83603395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562272377	chr15:83603410-83603411	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191936746	chr15:83603415-83603416	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142878763	chr15:83603425-83603426	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs72755930	chr15:83603452-83603453	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532908304	chr15:83603461-83603462	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546762483	chr15:83603478-83603479	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560278229	chr15:83603523-83603524	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12443081	chr15:83603563-83603564	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs549137271	chr15:83603620-83603621	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs114018620	chr15:83603631-83603632	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539613060	chr15:83603654-83603655	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372522493	chr15:83603672-83603673	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115297673	chr15:83603674-83603675	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551217659	chr15:83603714-83603715	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83586600-83619400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:83588800-83611600	Weak transcription	Right Atrium	heart
3	chr15:83589400-83602800	Weak transcription	Esophagus	oesophagus
4	chr15:83589600-83605400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:83592600-83610600	Weak transcription	Liver	Liver
6	chr15:83593600-83604800	Weak transcription	Psoas Muscle	Psoas
7	chr15:83594200-83602800	Weak transcription	Gastric	stomach
8	chr15:83598600-83608600	Enhancers	Pancreas	Pancrea
9	chr15:83599600-83606200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:83599800-83602600	Weak transcription	HSMM	muscle
11	chr15:83600200-83602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:83600200-83602600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:83600200-83603000	Weak transcription	HSMMtube	muscle
14	chr15:83600200-83606000	Weak transcription	Right Ventricle	heart
15	chr15:83600800-83603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:83601000-83602600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:83601800-83602800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:83602000-83608200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:83602200-83602400	Enhancers	NHEK	skin
20	chr15:83602200-83602600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:83602200-83602800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:83602200-83602800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:83602400-83603000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:83602400-83603000	Enhancers	Spleen	Spleen
25	chr15:83602600-83603400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr15:83602600-83603400	Enhancers	HSMM	muscle
27	chr15:83602600-83604200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:83602600-83605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:83602600-83607600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr15:83602800-83603200	Enhancers	Fetal Muscle Trunk	muscle
31	chr15:83602800-83603600	Enhancers	Brain Angular Gyrus	brain
32	chr15:83602800-83604200	Enhancers	Esophagus	oesophagus
33	chr15:83602800-83605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:83602800-83607000	Enhancers	Gastric	stomach
35	chr15:83603000-83603600	Flanking Active TSS	Spleen	Spleen
36	chr15:83603000-83605600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:83603000-83606000	Enhancers	HSMMtube	muscle
38	chr15:83603400-83603800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr15:83603400-83603800	Weak transcription	HSMM	muscle
40	chr15:83603600-83605000	Enhancers	Spleen	Spleen
41	chr15:83603800-83604000	Enhancers	HSMM	muscle
42	chr15:83604000-83605000	Weak transcription	HSMM	muscle
43	chr15:83604200-83604600	Weak transcription	Esophagus	oesophagus
44	chr15:83604200-83605200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:83604600-83604800	Enhancers	Fetal Kidney	kidney
46	chr15:83604600-83606000	Enhancers	Fetal Muscle Leg	muscle
47	chr15:83604600-83606600	Enhancers	Esophagus	oesophagus

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