Variant report

Variant	esv3312265
Chromosome Location	chr15:41866000-41870088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr15:41866346-41866497	K562	blood:	n/a	n/a
2	PBX3	chr15:41868751-41868892	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:41867681-41867695	MCF-7	breast:	n/a	n/a
4	POLR2A	chr15:41867679-41867776	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:41869846-41869877	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:41869632-41869717	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:41866622-41866629	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41836227..41837993-chr15:41866817..41868834,2	K562	blood:
2	chr15:41861308..41862926-chr15:41869698..41872291,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPAP1-2	chr15:41866359-41866831	NONHSAT041953

No data

Variant related genes	Relation type
TYRO3	TF binding region
ENSG00000103932	chromatin interactions
ENSG00000092445	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs539702700	chr15:41866004-41866005	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376768271	chr15:41866035-41866036	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372689887	chr15:41866061-41866062	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556535526	chr15:41866073-41866074	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372359928	chr15:41866124-41866125	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541957221	chr15:41866204-41866205	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116234679	chr15:41866208-41866209	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574340970	chr15:41866296-41866297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539967896	chr15:41866316-41866317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560049558	chr15:41866339-41866340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550580068	chr15:41866378-41866379	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs71472491	chr15:41866385-41866386	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs572116432	chr15:41866390-41866391	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs568848326	chr15:41866391-41866392	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs79333158	chr15:41866420-41866421	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs2681	chr15:41866421-41866422	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs183154888	chr15:41866440-41866441	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs187575108	chr15:41866446-41866447	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs373354315	chr15:41866459-41866460	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs562533040	chr15:41866466-41866467	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs560253344	chr15:41866519-41866520	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs531316822	chr15:41866554-41866555	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs193058999	chr15:41866579-41866580	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568157695	chr15:41866693-41866694	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs376320730	chr15:41866751-41866752	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs75164305	chr15:41866825-41866826	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs148112277	chr15:41866840-41866841	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141910656	chr15:41866861-41866862	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540144852	chr15:41866885-41866886	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35693767	chr15:41866892-41866893	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150609892	chr15:41866895-41866896	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570076445	chr15:41866918-41866919	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535457297	chr15:41866948-41866949	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs139679190	chr15:41866949-41866950	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2588324	chr15:41867003-41867004	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541093736	chr15:41867018-41867019	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185579252	chr15:41867033-41867034	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576940595	chr15:41867058-41867059	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34870608	chr15:41867059-41867060	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546114230	chr15:41867065-41867066	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4924554	chr15:41867079-41867080	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs376381875	chr15:41867105-41867106	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531382043	chr15:41867209-41867210	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369526616	chr15:41867240-41867241	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541848111	chr15:41867285-41867286	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570567987	chr15:41867316-41867317	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188900218	chr15:41867369-41867370	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34742899	chr15:41867378-41867379	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534795809	chr15:41867411-41867412	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4924555	chr15:41867443-41867444	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41852200-41877400	Weak transcription	Aorta	Aorta
2	chr15:41852400-41877200	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:41852600-41877400	Weak transcription	HMEC	breast
4	chr15:41852800-41877400	Weak transcription	NHEK	skin
5	chr15:41853200-41872600	Weak transcription	Hela-S3	cervix
6	chr15:41853400-41870600	Weak transcription	Stomach Mucosa	stomach
7	chr15:41854000-41871400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:41854200-41877000	Weak transcription	Fetal Brain Male	brain
9	chr15:41855400-41877000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:41855400-41877200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:41859000-41866200	Weak transcription	NHDF-Ad	bronchial
12	chr15:41859000-41869000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:41859600-41868000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:41860200-41866200	Strong transcription	Esophagus	oesophagus
15	chr15:41860800-41871800	Strong transcription	Brain Germinal Matrix	brain
16	chr15:41861000-41877200	Weak transcription	HUVEC	blood vessel
17	chr15:41861200-41867400	Weak transcription	Left Ventricle	heart
18	chr15:41861200-41870000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:41861200-41870000	Weak transcription	HSMMtube	muscle
20	chr15:41861200-41871200	Weak transcription	Small Intestine	intestine
21	chr15:41861200-41877000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:41861400-41867400	Weak transcription	Right Ventricle	heart
23	chr15:41861400-41868000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr15:41861400-41870000	Strong transcription	Fetal Muscle Leg	muscle
25	chr15:41861400-41870400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:41861400-41870400	Strong transcription	Fetal Stomach	stomach
27	chr15:41861400-41870600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:41861400-41870600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr15:41861400-41870800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:41861400-41871000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:41861400-41871400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:41861400-41871400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:41861400-41873200	Weak transcription	K562	blood
34	chr15:41861600-41868000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:41861600-41868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:41861600-41871400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr15:41861600-41871400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:41861800-41866200	Strong transcription	Placenta	Placenta
39	chr15:41861800-41868400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:41861800-41870000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:41861800-41870200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:41861800-41870200	Strong transcription	Spleen	Spleen
43	chr15:41861800-41871000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:41861800-41871000	Strong transcription	Fetal Intestine Large	intestine
45	chr15:41862000-41868200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:41862000-41870400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:41862000-41870600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr15:41862000-41870800	Strong transcription	Fetal Intestine Small	intestine
49	chr15:41862000-41871200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:41862200-41867800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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