Variant report

Variant	esv3419623
Chromosome Location	chr15:39742460-39746758
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	chr15:39742666..39745111-chr15:39746881..39749174,2	K562	blood:
2	chr15:39719354..39722131-chr15:39742373..39743921,2	K562	blood:
3	chr15:39741167..39743297-chr15:39871792..39873904,2	MCF-7	breast:
4	chr15:39739658..39743220-chr15:39872774..39876303,4	MCF-7	breast:
5	chr15:39739352..39742846-chr15:39745277..39748876,4	MCF-7	breast:
6	chr15:39739352..39742846-chr15:39745277..39748876,4	MCF-7	breast:
7	chr15:39746552..39749195-chr15:39826550..39828305,2	MCF-7	breast:
8	chr15:39743414..39749749-chr15:39871400..39878085,10	MCF-7	breast:
9	chr15:39745636..39749475-chr15:39752031..39754404,4	K562	blood:
10	chr15:39744731..39747916-chr15:39873044..39877161,3	MCF-7	breast:
11	chr15:39463804..39465395-chr15:39742405..39744124,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259345	chromatin interactions
ENSG00000137801	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537657310	chr15:39742488-39742489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188075579	chr15:39742513-39742514	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117209567	chr15:39742547-39742548	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367627925	chr15:39742567-39742568	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs71207352	chr15:39742568-39742569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs62005275	chr15:39742569-39742570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62005276	chr15:39742570-39742571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193069222	chr15:39742573-39742574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371319813	chr15:39742585-39742586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531558553	chr15:39742605-39742606	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540809097	chr15:39742669-39742670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183017504	chr15:39742683-39742684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142890737	chr15:39742700-39742701	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550020615	chr15:39742716-39742717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563538479	chr15:39742749-39742750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146096931	chr15:39742783-39742784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138852538	chr15:39742795-39742796	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541999321	chr15:39742831-39742832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs16969031	chr15:39742901-39742902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535030576	chr15:39742909-39742910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551539825	chr15:39742928-39742929	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573462349	chr15:39742931-39742932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7171244	chr15:39742977-39742978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs150867322	chr15:39742980-39742981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529086020	chr15:39743003-39743004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536595980	chr15:39743028-39743029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554934159	chr15:39743072-39743073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs34022040	chr15:39743074-39743075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139431216	chr15:39743083-39743084	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187740535	chr15:39743110-39743111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544261310	chr15:39743118-39743119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563997181	chr15:39743126-39743127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577682301	chr15:39743159-39743160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs16969032	chr15:39743255-39743256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140049325	chr15:39743261-39743262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200680098	chr15:39743283-39743284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529196758	chr15:39743303-39743304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2411294	chr15:39743304-39743305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371791589	chr15:39743335-39743336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147147151	chr15:39743389-39743390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532748669	chr15:39743458-39743459	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528450886	chr15:39743532-39743533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376207836	chr15:39743549-39743550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs551770556	chr15:39743587-39743588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371968053	chr15:39743632-39743633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs140280794	chr15:39743663-39743664	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531062546	chr15:39743745-39743746	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs550759552	chr15:39743756-39743757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs56370686	chr15:39743769-39743770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532745180	chr15:39743781-39743782	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	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
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
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39727200-39746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:39737200-39742800	Weak transcription	Lung	lung
3	chr15:39737800-39742600	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:39740000-39759400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:39740400-39745400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:39740400-39745400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr15:39740400-39747200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:39740800-39742600	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:39740800-39745400	Weak transcription	GM12878-XiMat	blood
10	chr15:39741000-39742600	Weak transcription	Small Intestine	intestine
11	chr15:39742400-39742600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:39742400-39743000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr15:39742400-39744200	Enhancers	Fetal Stomach	stomach
14	chr15:39742400-39744400	Enhancers	Fetal Lung	lung
15	chr15:39742400-39744600	Enhancers	Rectal Smooth Muscle	rectum
16	chr15:39742600-39742800	Enhancers	Small Intestine	intestine
17	chr15:39742600-39743000	Enhancers	Fetal Muscle Leg	muscle
18	chr15:39742600-39744200	Enhancers	Colon Smooth Muscle	Colon
19	chr15:39742800-39743000	Enhancers	Lung	lung
20	chr15:39742800-39743200	Weak transcription	Small Intestine	intestine
21	chr15:39742800-39744200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr15:39743000-39745400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:39743000-39745600	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:39743200-39744000	Enhancers	NHLF	lung
25	chr15:39743200-39744200	Enhancers	Small Intestine	intestine
26	chr15:39743200-39744200	Enhancers	NHDF-Ad	bronchial
27	chr15:39743400-39744200	Enhancers	Duodenum Mucosa	Duodenum
28	chr15:39743400-39744400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr15:39743600-39743800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:39743600-39743800	Enhancers	Osteobl	bone
31	chr15:39743800-39744200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:39743800-39744600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:39743800-39745400	Weak transcription	Osteobl	bone
34	chr15:39743800-39745600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:39744000-39745000	Enhancers	HUVEC	blood vessel
36	chr15:39744000-39747600	Weak transcription	NHLF	lung
37	chr15:39744200-39745200	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:39744200-39745200	Weak transcription	Fetal Stomach	stomach
39	chr15:39744200-39745600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:39744200-39745600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:39744200-39745600	Weak transcription	NHDF-Ad	bronchial
42	chr15:39744400-39745400	Weak transcription	Fetal Lung	lung
43	chr15:39744400-39748400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:39744600-39745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:39744600-39753400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:39745200-39745600	Enhancers	Colon Smooth Muscle	Colon
47	chr15:39745200-39746600	Enhancers	Fetal Stomach	stomach
48	chr15:39745200-39747400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:39745400-39745600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr15:39745400-39745600	Enhancers	GM12878-XiMat	blood

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