Variant report

Variant	esv3449813
Chromosome Location	chr15:52345269-52345801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52344231..52347096-chr15:52361163..52363365,2	K562	blood:
2	chr15:52309859..52315433-chr15:52338782..52357079,28	MCF-7	breast:
3	chr15:52339219..52341051-chr15:52343518..52345839,3	MCF-7	breast:
4	chr15:52343651..52347096-chr15:52360408..52363365,3	K562	blood:
5	chr15:52310181..52316125-chr15:52344513..52354209,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069956	chromatin interactions
ENSG00000259438	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74842417	chr15:52345284-52345285	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs542643909	chr15:52345312-52345313	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146649831	chr15:52345331-52345332	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191180098	chr15:52345353-52345354	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529671558	chr15:52345365-52345366	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545633514	chr15:52345370-52345371	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563085845	chr15:52345420-52345421	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371949238	chr15:52345430-52345431	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34012095	chr15:52345461-52345462	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551938032	chr15:52345472-52345473	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562347798	chr15:52345492-52345493	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571830022	chr15:52345493-52345494	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs8036048	chr15:52345506-52345507	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116071969	chr15:52345519-52345520	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566354629	chr15:52345526-52345527	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536690522	chr15:52345532-52345533	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554993225	chr15:52345570-52345571	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570019055	chr15:52345572-52345573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183342671	chr15:52345601-52345602	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537575386	chr15:52345602-52345603	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142420892	chr15:52345607-52345608	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs187599307	chr15:52345617-52345618	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs578128399	chr15:52345622-52345623	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563085355	chr15:52345644-52345645	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77001805	chr15:52345725-52345726	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201552416	chr15:52345750-52345751	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs527549869	chr15:52345760-52345761	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369221428	chr15:52345761-52345762	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375254842	chr15:52345764-52345765	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183055836	chr15:52345772-52345773	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574382599	chr15:52345784-52345785	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147949539	chr15:52345787-52345788	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
3	chr15:52332400-52348200	Weak transcription	Colonic Mucosa	Colon
4	chr15:52332600-52349000	Weak transcription	Esophagus	oesophagus
5	chr15:52332600-52349400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:52332600-52350800	Weak transcription	Aorta	Aorta
7	chr15:52332600-52361800	Weak transcription	Gastric	stomach
8	chr15:52333000-52345400	Weak transcription	Lung	lung
9	chr15:52333000-52348200	Weak transcription	HSMMtube	muscle
10	chr15:52333000-52350800	Weak transcription	Right Ventricle	heart
11	chr15:52333000-52351000	Weak transcription	Spleen	Spleen
12	chr15:52333200-52348600	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:52334000-52361400	Weak transcription	Small Intestine	intestine
14	chr15:52334600-52357200	Weak transcription	Fetal Heart	heart
15	chr15:52334800-52350200	Weak transcription	Psoas Muscle	Psoas
16	chr15:52335000-52348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:52335400-52350800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:52335400-52350800	Weak transcription	Pancreas	Pancrea
19	chr15:52337600-52360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:52337800-52357000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:52338200-52346200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:52338200-52347400	Weak transcription	Stomach Mucosa	stomach
23	chr15:52338200-52351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:52338400-52347400	Weak transcription	Brain Angular Gyrus	brain
25	chr15:52338600-52346800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:52338800-52345800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:52338800-52347000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:52339000-52349000	Strong transcription	Fetal Intestine Small	intestine
29	chr15:52339200-52345600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:52339200-52348800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:52339200-52351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:52339200-52351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:52339200-52351600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:52339400-52359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:52339600-52357000	Strong transcription	Fetal Intestine Large	intestine
36	chr15:52339800-52347000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:52340200-52346400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr15:52340200-52362200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr15:52340400-52349800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr15:52341000-52345400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:52341600-52357600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:52341800-52346400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:52341800-52347600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:52341800-52358000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:52342000-52346000	Strong transcription	Fetal Thymus	thymus
46	chr15:52342200-52346000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr15:52342400-52347000	Strong transcription	Dnd41	blood
48	chr15:52342600-52345600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:52342600-52346400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:52342800-52345600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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