Variant report

Variant	esv18924
Chromosome Location	chr15:35196822-35197837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35195184..35198331-chr15:35198423..35200783,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561530924	chr15:35196836-35196837	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs717941	chr15:35196878-35196879	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147746664	chr15:35196917-35196918	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80032093	chr15:35196930-35196931	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141081867	chr15:35196990-35196991	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150248817	chr15:35196995-35196996	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5811840	chr15:35197046-35197047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569751409	chr15:35197062-35197063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367783853	chr15:35197206-35197207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74009755	chr15:35197245-35197246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530498257	chr15:35197298-35197299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575419415	chr15:35197314-35197315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376286148	chr15:35197321-35197322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535280973	chr15:35197404-35197405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549586898	chr15:35197405-35197406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567849560	chr15:35197429-35197430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16960038	chr15:35197444-35197445	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs200647326	chr15:35197465-35197466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553705319	chr15:35197467-35197468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575667952	chr15:35197537-35197538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147970113	chr15:35197558-35197559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111493145	chr15:35197561-35197562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377187373	chr15:35197585-35197586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138882826	chr15:35197618-35197619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539044896	chr15:35197626-35197627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189493628	chr15:35197669-35197670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148961668	chr15:35197670-35197671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181086034	chr15:35197726-35197727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542746916	chr15:35197762-35197763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555190436	chr15:35197787-35197788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565076755	chr15:35197790-35197791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35140400-35221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:35145200-35198200	Weak transcription	Colonic Mucosa	Colon
3	chr15:35185200-35205200	Weak transcription	Stomach Mucosa	stomach
4	chr15:35186000-35197600	Weak transcription	Left Ventricle	heart
5	chr15:35186000-35198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:35186000-35198000	Weak transcription	Spleen	Spleen
7	chr15:35186000-35198400	Weak transcription	Aorta	Aorta
8	chr15:35186000-35198400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:35186000-35199600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:35186000-35204200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:35186000-35206400	Weak transcription	Right Ventricle	heart
12	chr15:35186000-35206600	Weak transcription	Small Intestine	intestine
13	chr15:35186000-35212400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:35186000-35212600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:35186000-35213000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr15:35186000-35220000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:35186000-35220000	Weak transcription	Pancreas	Pancrea
18	chr15:35186000-35223200	Weak transcription	Gastric	stomach
19	chr15:35186000-35232000	Weak transcription	Fetal Brain Male	brain
20	chr15:35186200-35198000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:35186200-35198200	Weak transcription	Esophagus	oesophagus
22	chr15:35186200-35198400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:35186200-35202200	Weak transcription	NHEK	skin
24	chr15:35186200-35212000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:35186200-35212400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:35186200-35212400	Strong transcription	Liver	Liver
27	chr15:35186400-35201000	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:35186400-35205400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:35186400-35238800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:35186600-35198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:35186600-35204000	Weak transcription	NHLF	lung
32	chr15:35186600-35206000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:35186600-35212200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:35186600-35212200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:35186600-35212400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:35187200-35204000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:35187200-35204200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:35187200-35212000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:35187400-35212000	Strong transcription	Adipose Nuclei	Adipose
40	chr15:35187800-35204200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:35188200-35199000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:35189200-35199600	Weak transcription	Fetal Kidney	kidney
43	chr15:35190000-35198200	Weak transcription	Brain Anterior Caudate	brain
44	chr15:35190000-35198600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:35190200-35197600	Weak transcription	Fetal Brain Female	brain
46	chr15:35190200-35198600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:35190400-35198200	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:35190800-35198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:35191400-35212800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:35192000-35212200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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