Variant report

Variant	esv3420403
Chromosome Location	chr15:31754610-31756808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:31753081..31754904-chr15:31769113..31772729,3	MCF-7	breast:
2	chr15:31753960..31755078-chr15:31780591..31781425,3	MCF-7	breast:
3	chr15:31753115..31755985-chr15:31766097..31768042,2	MCF-7	breast:
4	chr15:31747904..31750478-chr15:31754531..31757245,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71869540	chr15:31754610-31754611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs398070624	chr15:31754628-31754629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376906314	chr15:31754629-31754630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368754058	chr15:31754630-31754631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538445631	chr15:31754646-31754647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551541458	chr15:31754658-31754659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376893421	chr15:31754673-31754674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571713704	chr15:31754684-31754685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534076158	chr15:31754699-31754700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56249651	chr15:31754718-31754719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574109404	chr15:31754756-31754757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373106416	chr15:31754787-31754788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72334100	chr15:31754788-31754789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202005658	chr15:31754789-31754790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201202373	chr15:31754790-31754791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148715111	chr15:31754805-31754806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184397279	chr15:31754890-31754891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566176518	chr15:31754902-31754903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11631962	chr15:31754962-31754963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs71399746	chr15:31754985-31754986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556333901	chr15:31755002-31755003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564978432	chr15:31755015-31755016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142273972	chr15:31755019-31755020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151002330	chr15:31755028-31755029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187542325	chr15:31755036-31755037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56332002	chr15:31755075-31755076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549226153	chr15:31755203-31755204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11071069	chr15:31755208-31755209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs28896251	chr15:31755243-31755244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551943002	chr15:31755247-31755248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571785211	chr15:31755255-31755256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527761393	chr15:31755257-31755258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192530974	chr15:31755274-31755275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184869634	chr15:31755283-31755284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570959583	chr15:31755287-31755288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536653362	chr15:31755292-31755293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556449033	chr15:31755313-31755314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569929941	chr15:31755373-31755374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28579624	chr15:31755377-31755378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558696357	chr15:31755404-31755405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374996319	chr15:31755408-31755409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367614534	chr15:31755409-31755410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372067904	chr15:31755420-31755421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572170699	chr15:31755433-31755434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541086713	chr15:31755440-31755441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113827007	chr15:31755447-31755448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554253693	chr15:31755471-31755472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574051010	chr15:31755472-31755473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543013715	chr15:31755473-31755474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562986602	chr15:31755480-31755481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	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
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31749200-31764000	Weak transcription	Right Atrium	heart
2	chr15:31750400-31755000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:31751400-31755200	Weak transcription	Colonic Mucosa	Colon
4	chr15:31751400-31755800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:31751400-31756600	Weak transcription	Spleen	Spleen
6	chr15:31751600-31755800	Weak transcription	Esophagus	oesophagus
7	chr15:31751600-31756600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:31751800-31756600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:31751800-31756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:31751800-31756800	Weak transcription	NHEK	skin
11	chr15:31751800-31757800	Weak transcription	A549	lung
12	chr15:31752000-31756800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:31752000-31756800	Weak transcription	HMEC	breast
14	chr15:31752000-31763800	Weak transcription	Primary T cells from cord blood	blood
15	chr15:31753000-31756200	Weak transcription	Primary B cells from cord blood	blood
16	chr15:31753200-31754800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr15:31753600-31757200	Weak transcription	Hela-S3	cervix
18	chr15:31753800-31755000	Enhancers	Primary B cells from peripheral blood	blood
19	chr15:31754400-31756000	Weak transcription	GM12878-XiMat	blood
20	chr15:31754400-31757000	Weak transcription	Right Ventricle	heart
21	chr15:31754400-31761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:31754600-31755800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:31754600-31755800	Weak transcription	Small Intestine	intestine
24	chr15:31755000-31755800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:31755000-31756400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:31755200-31756800	Enhancers	Colonic Mucosa	Colon
27	chr15:31755800-31756000	Enhancers	Duodenum Mucosa	Duodenum
28	chr15:31755800-31756200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr15:31755800-31756400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr15:31755800-31757000	Enhancers	Small Intestine	intestine
31	chr15:31755800-31757800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:31755800-31758000	Enhancers	Stomach Mucosa	stomach
33	chr15:31755800-31758200	Enhancers	Esophagus	oesophagus
34	chr15:31756000-31756600	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr15:31756000-31756800	Enhancers	GM12878-XiMat	blood
36	chr15:31756200-31756600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:31756200-31757000	Enhancers	Primary B cells from cord blood	blood
38	chr15:31756400-31757200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:31756400-31757600	Enhancers	Primary B cells from peripheral blood	blood
40	chr15:31756400-31757600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr15:31756600-31757000	Enhancers	Duodenum Mucosa	Duodenum
42	chr15:31756600-31757600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr15:31756600-31757800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:31756600-31757800	Enhancers	Spleen	Spleen
45	chr15:31756600-31758400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:31756600-31758400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr15:31756800-31757200	Enhancers	NHEK	skin
48	chr15:31756800-31757400	Enhancers	HMEC	breast
49	chr15:31756800-31757600	Flanking Active TSS	Colonic Mucosa	Colon
50	chr15:31756800-31757800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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