Variant report

Variant	esv3487226
Chromosome Location	chr15:74163341-74164459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:74163340-74163794	K562	blood:	n/a	n/a
2	BHLHE40	chr15:74163430-74163817	K562	blood:	n/a	n/a
3	CCNT2	chr15:74163436-74163773	K562	blood:	n/a	n/a
4	CEBPB	chr15:74163440-74163689	K562	blood:	n/a	n/a
5	CTCF	chr15:74163200-74163350	HCM	heart:	n/a	n/a
6	CTCF	chr15:74163200-74163350	GM12864	blood:	n/a	n/a
7	ELF1	chr15:74163509-74163754	K562	blood:	n/a	n/a
8	EP300	chr15:74163458-74163729	K562	blood:	n/a	n/a
9	FOS	chr15:74163353-74163748	HUVEC	blood vessel:	n/a	n/a
10	FOXA1	chr15:74163479-74163652	A549	lung:	n/a	n/a
11	GATA1	chr15:74163152-74164040	K562	blood:	n/a	n/a
12	GATA1	chr15:74163327-74163817	PBDE	blood:	n/a	n/a
13	GATA2	chr15:74163163-74163930	HUVEC	blood vessel:	n/a	chr15:74163598-74163612
14	JUND	chr15:74163430-74163761	K562	blood:	n/a	n/a
15	MAZ	chr15:74163482-74163699	K562	blood:	n/a	n/a
16	MYC	chr15:74163433-74163819	K562	blood:	n/a	n/a
17	MYC	chr15:74163398-74163770	K562	blood:	n/a	n/a
18	NR3C1	chr15:74163424-74163600	A549	lung:	n/a	n/a
19	NR3C1	chr15:74163254-74163636	A549	lung:	n/a	n/a
20	NR3C1	chr15:74163258-74163719	A549	lung:	n/a	n/a
21	NR3C1	chr15:74163380-74163698	A549	lung:	n/a	n/a
22	NR3C1	chr15:74163325-74163738	A549	lung:	n/a	n/a
23	POLR2A	chr15:74163370-74163452	MCF-7	breast:	n/a	n/a
24	POLR2A	chr15:74163333-74163525	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr15:74163544-74163733	K562	blood:	n/a	n/a
26	RCOR1	chr15:74163514-74163616	K562	blood:	n/a	n/a
27	RCOR1	chr15:74163407-74163791	K562	blood:	n/a	n/a
28	SPI1	chr15:74163518-74163706	K562	blood:	n/a	n/a
29	TAL1	chr15:74163458-74163693	K562	blood:	n/a	n/a
30	TBL1XR1	chr15:74163504-74163770	K562	blood:	n/a	n/a
31	TEAD4	chr15:74163375-74163874	K562	blood:	n/a	n/a
32	TEAD4	chr15:74163465-74163715	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	chr15:74138773..74141661-chr15:74162026..74163857,2	MCF-7	breast:
2	chr15:74163735..74170089-chr15:74218002..74222715,6	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STOML1-2	chr15:74164341-74164444	NONHSAT047166
2	lnc-STOML1-2	chr15:74163292-74163457	ENSG00000260624.1
3	lnc-STOML1-2	chr15:74164284-74164348	ENSG00000260624.1
4	lnc-STOML1-2	chr15:74164281-74164444	NONHSAT047170
5	lnc-STOML1-2	chr15:74164284-74164444	ENSG00000260624.1
6	lnc-STOML1-2	chr15:74163278-74163457	NONHSAT047167
7	lnc-STOML1-2	chr15:74163278-74163457	NONHSAT047168
8	lnc-STOML1-2	chr15:74163278-74163457	NONHSAT047166
9	lnc-STOML1-2	chr15:74163291-74163541	ENSG00000260624.1
10	lnc-STOML1-2	chr15:74164284-74164444	NONHSAT047167

No data

Variant related genes	Relation type
TBC1D21	TF binding region
ENSG00000260624	TF binding region
ENSG00000261801	chromatin interactions
ENSG00000129038	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150146527	chr15:74163378-74163379	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs2290345	chr15:74163430-74163431	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75470653	chr15:74163433-74163434	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs553272625	chr15:74163434-74163435	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs531718031	chr15:74163445-74163446	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs568075786	chr15:74163485-74163486	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs535487782	chr15:74163503-74163504	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs138578058	chr15:74163504-74163505	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs142771428	chr15:74163609-74163610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543596080	chr15:74163616-74163617	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs558824362	chr15:74163640-74163641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs577191225	chr15:74163642-74163643	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147376835	chr15:74163648-74163649	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559700041	chr15:74163674-74163675	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545150249	chr15:74163692-74163693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565066424	chr15:74163711-74163712	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs527532611	chr15:74163714-74163715	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs79563844	chr15:74163744-74163745	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs192178304	chr15:74163759-74163760	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs561201780	chr15:74163777-74163778	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs373904128	chr15:74163780-74163781	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs184955049	chr15:74163866-74163867	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs139507308	chr15:74163872-74163873	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs7163502	chr15:74164031-74164032	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143424273	chr15:74164054-74164055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs147849911	chr15:74164127-74164128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs58741322	chr15:74164133-74164134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370171675	chr15:74164157-74164158	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189463008	chr15:74164171-74164172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568662275	chr15:74164172-74164173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376428202	chr15:74164204-74164205	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs386785344	chr15:74164206-74164207	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs372638011	chr15:74164207-74164208	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375987203	chr15:74164208-74164209	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535837654	chr15:74164247-74164248	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550740484	chr15:74164285-74164286	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs8025389	chr15:74164331-74164332	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs192278018	chr15:74164365-74164366	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs147130492	chr15:74164384-74164385	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs58309771	chr15:74164389-74164390	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558305379	chr15:74164394-74164395	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs78009024	chr15:74164426-74164427	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74154800-74167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:74158600-74164600	Enhancers	Right Atrium	heart
3	chr15:74160000-74163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:74161400-74163400	Weak transcription	Ovary	ovary
5	chr15:74161600-74163800	Enhancers	Left Ventricle	heart
6	chr15:74161600-74164600	Enhancers	Right Ventricle	heart
7	chr15:74162600-74164600	Enhancers	Fetal Intestine Large	intestine
8	chr15:74162600-74164800	Enhancers	Fetal Intestine Small	intestine
9	chr15:74163000-74163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:74163000-74164600	Enhancers	Stomach Mucosa	stomach
11	chr15:74163000-74164600	Enhancers	Thymus	Thymus
12	chr15:74163200-74163400	Bivalent Enhancer	NHDF-Ad	bronchial
13	chr15:74163200-74163600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:74163200-74163600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:74163200-74163600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr15:74163200-74163600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr15:74163200-74163600	Enhancers	Lung	lung
18	chr15:74163200-74163600	Enhancers	Spleen	Spleen
19	chr15:74163200-74163600	Bivalent Enhancer	NH-A	brain
20	chr15:74163200-74163800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:74163200-74163800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:74163200-74163800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:74163200-74163800	Enhancers	Fetal Thymus	thymus
24	chr15:74163200-74163800	Enhancers	Pancreas	Pancrea
25	chr15:74163200-74163800	Enhancers	HUVEC	blood vessel
26	chr15:74163200-74164000	Enhancers	K562	blood
27	chr15:74163200-74164400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:74163200-74164400	Enhancers	Fetal Heart	heart
29	chr15:74163200-74164800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:74163400-74163600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:74163400-74163600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:74163400-74163600	Flanking Bivalent TSS/Enh	Hela-S3	cervix
33	chr15:74163400-74163800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:74163400-74163800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:74163400-74163800	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr15:74163400-74163800	Enhancers	Ovary	ovary
37	chr15:74163400-74163800	Bivalent Enhancer	NHEK	skin
38	chr15:74163400-74164400	Enhancers	Primary hematopoietic stem cells	blood
39	chr15:74163600-74163800	Bivalent Enhancer	A549	lung
40	chr15:74163600-74164600	Enhancers	Duodenum Mucosa	Duodenum
41	chr15:74163600-74164800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:74163600-74165200	Enhancers	Osteobl	bone
43	chr15:74163600-74165600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:74163800-74164600	Weak transcription	Left Ventricle	heart
45	chr15:74163800-74164600	Weak transcription	Pancreas	Pancrea
46	chr15:74163800-74164800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:74164200-74164400	Bivalent Enhancer	NHDF-Ad	bronchial
48	chr15:74164400-74165200	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links