Variant report

Variant	esv2761867
Chromosome Location	chr15:35395441-35409539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:35398374..35400467-chr15:35402747..35404431,2	K562	blood:
2	chr15:35405163..35407322-chr15:35410998..35413747,2	K562	blood:
3	chr15:35398374..35400467-chr15:35402747..35404431,2	K562	blood:

Extended variants
information (count: 380 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72703093	chr15:35395517-35395518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561289768	chr15:35395539-35395540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35582592	chr15:35395584-35395585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528677351	chr15:35395633-35395634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2219475	chr15:35395638-35395639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs3919820	chr15:35395650-35395651	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs532702670	chr15:35395666-35395667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137962856	chr15:35395683-35395684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149486872	chr15:35395696-35395697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143915827	chr15:35395714-35395715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16960370	chr15:35395724-35395725	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs567249038	chr15:35395730-35395731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566831147	chr15:35395786-35395787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79294418	chr15:35395793-35395794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552789373	chr15:35395811-35395812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571006660	chr15:35395820-35395821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527835483	chr15:35395825-35395826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182720141	chr15:35395939-35395940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58497994	chr15:35395944-35395945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148618182	chr15:35395971-35395972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542922458	chr15:35395974-35395975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555287796	chr15:35396088-35396089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188066744	chr15:35396090-35396091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142044770	chr15:35396145-35396146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540828691	chr15:35396174-35396175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546470932	chr15:35396187-35396188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568256589	chr15:35396200-35396201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147542826	chr15:35396208-35396209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532610393	chr15:35396209-35396210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373854655	chr15:35396212-35396213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544709568	chr15:35396213-35396214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1841126	chr15:35396241-35396242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182917725	chr15:35396295-35396296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535699531	chr15:35396296-35396297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187971916	chr15:35396369-35396370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113362865	chr15:35396400-35396401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548326593	chr15:35396428-35396429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140184046	chr15:35396429-35396430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191407599	chr15:35396441-35396442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546339257	chr15:35396443-35396444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568833937	chr15:35396444-35396445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571116817	chr15:35396488-35396489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185067193	chr15:35396494-35396495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557039213	chr15:35396496-35396497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117855032	chr15:35396554-35396555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145596407	chr15:35396630-35396631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554655528	chr15:35396670-35396671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557762258	chr15:35396800-35396801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200354620	chr15:35400012-35400013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190777483	chr15:35400031-35400032	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35378000-35396400	Weak transcription	Left Ventricle	heart
2	chr15:35394800-35396000	Enhancers	Fetal Lung	lung
3	chr15:35395600-35395800	Enhancers	Fetal Heart	heart
4	chr15:35396200-35396800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:35400000-35401800	Enhancers	Liver	Liver
6	chr15:35400600-35401200	Enhancers	Adipose Nuclei	Adipose
7	chr15:35400800-35401000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:35401200-35415000	Weak transcription	Adipose Nuclei	Adipose
9	chr15:35401400-35402600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:35401800-35407000	Weak transcription	Liver	Liver
11	chr15:35402600-35403200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:35404000-35404800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:35404400-35404800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:35404800-35407400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:35407000-35407800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:35407000-35407800	Enhancers	HepG2	liver
17	chr15:35407000-35412600	Enhancers	Liver	Liver
18	chr15:35407200-35408000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:35407400-35407600	Enhancers	Pancreas	Pancrea
20	chr15:35407400-35407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:35407400-35407800	Enhancers	Ovary	ovary
22	chr15:35407400-35408400	Enhancers	Fetal Lung	lung
23	chr15:35407600-35407800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr15:35407600-35408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:35407600-35408600	Enhancers	Brain Germinal Matrix	brain
26	chr15:35407600-35415600	Weak transcription	Pancreas	Pancrea
27	chr15:35407800-35408200	Enhancers	NHEK	skin
28	chr15:35407800-35411600	Weak transcription	HepG2	liver
29	chr15:35407800-35412600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:35408000-35409000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:35408200-35410400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:35408400-35408800	Weak transcription	Fetal Lung	lung
33	chr15:35408600-35409400	Weak transcription	Brain Germinal Matrix	brain
34	chr15:35408800-35412600	Enhancers	Fetal Lung	lung
35	chr15:35409000-35409800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr15:35409000-35410000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:35409000-35410000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr15:35409000-35410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:35409200-35409400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr15:35409200-35410000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:35409200-35410400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr15:35409200-35410600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr15:35409400-35409600	Enhancers	Brain Germinal Matrix	brain
44	chr15:35409400-35409800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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