Variant report

Variant	esv14610
Chromosome Location	chr15:40589464-40590384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40590311-40590420	K562	blood:	n/a	n/a
2	POLR2A	chr15:40588557-40590174	HL-60	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40581027..40584497-chr15:40588911..40592089,3	MCF-7	breast:
2	chr15:40582955..40584944-chr15:40588565..40590383,2	K562	blood:
3	chr15:40590365..40590885-chr22:22562273..22562851,5	K562	blood:
4	chr15:40582955..40585204-chr15:40588565..40592686,6	K562	blood:
5	chr15:40580757..40582494-chr15:40588755..40591598,2	K562	blood:
6	chr15:40586469..40589558-chr15:40593473..40595451,3	K562	blood:
7	chr15:40588970..40591870-chr15:40597041..40599915,2	K562	blood:
8	chr15:40588561..40590499-chr15:40591600..40593237,2	K562	blood:

No data

Variant related genes	Relation type
PLCB2	TF binding region
PLCB2-AS1	TF binding region
ENSG00000259307	chromatin interactions
ENSG00000137841	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59419768	chr15:40589504-40589505	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs397953294	chr15:40589512-40589513	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs75753631	chr15:40589529-40589530	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs558439359	chr15:40589545-40589546	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs578255437	chr15:40589565-40589566	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs189259572	chr15:40589591-40589592	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs11853982	chr15:40589603-40589604	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs575975645	chr15:40589638-40589639	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs369572798	chr15:40589687-40589688	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs145192977	chr15:40589708-40589709	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs541949900	chr15:40589711-40589712	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs186064001	chr15:40589742-40589743	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369066758	chr15:40589749-40589750	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs267604176	chr15:40589757-40589758	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs373857424	chr15:40589758-40589759	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs376098433	chr15:40589768-40589769	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs200216697	chr15:40589771-40589772	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs369261333	chr15:40589772-40589773	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs373399032	chr15:40589802-40589803	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs564008412	chr15:40589804-40589805	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs377571128	chr15:40589812-40589813	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs371110365	chr15:40589816-40589817	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs41277680	chr15:40589824-40589825	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs563547202	chr15:40589827-40589828	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs2305649	chr15:40589830-40589831	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370367411	chr15:40589832-40589833	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs374084246	chr15:40589835-40589836	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs367673468	chr15:40589841-40589842	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs566040981	chr15:40589861-40589862	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs528464717	chr15:40589866-40589867	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs551814652	chr15:40589898-40589899	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs571954884	chr15:40589908-40589909	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs28395843	chr15:40589964-40589965	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs137987736	chr15:40589965-40589966	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs376456005	chr15:40589967-40589968	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs536450735	chr15:40590001-40590002	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs555412173	chr15:40590003-40590004	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs371919575	chr15:40590077-40590078	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs61755437	chr15:40590098-40590099	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs2229690	chr15:40590134-40590135	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs368705449	chr15:40590197-40590198	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs28395837	chr15:40590198-40590199	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377008279	chr15:40590202-40590203	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368347413	chr15:40590203-40590204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs116284463	chr15:40590226-40590227	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563443715	chr15:40590229-40590230	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191333961	chr15:40590231-40590232	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542476540	chr15:40590250-40590251	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2305648	chr15:40590265-40590266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs528631830	chr15:40590272-40590273	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40572000-40592800	Weak transcription	Dnd41	blood
2	chr15:40575800-40592600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:40576000-40590800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:40576200-40592600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:40577400-40593200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:40577800-40593000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:40578000-40596000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:40578800-40592600	Strong transcription	Primary T cells from cord blood	blood
9	chr15:40579000-40591600	Strong transcription	Thymus	Thymus
10	chr15:40579000-40592800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:40579000-40592800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:40579000-40595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:40579000-40595600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr15:40579200-40597000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:40579800-40592800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr15:40581400-40592000	Strong transcription	Primary B cells from cord blood	blood
17	chr15:40581600-40592200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr15:40582000-40592600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:40583600-40593000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:40583800-40590800	Enhancers	Right Ventricle	heart
21	chr15:40583800-40596400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:40584000-40594400	Weak transcription	Colonic Mucosa	Colon
23	chr15:40584000-40596400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:40584000-40596800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:40584200-40599200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:40584200-40614800	Weak transcription	Gastric	stomach
27	chr15:40584400-40599000	Weak transcription	Liver	Liver
28	chr15:40584600-40590400	Weak transcription	Lung	lung
29	chr15:40584800-40592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:40586000-40592800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:40586400-40589800	Weak transcription	Fetal Thymus	thymus
32	chr15:40586600-40593000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr15:40586800-40593000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:40586800-40595600	Weak transcription	Brain Substantia Nigra	brain
35	chr15:40587200-40594200	Weak transcription	Fetal Brain Male	brain
36	chr15:40587600-40590000	Enhancers	Pancreas	Pancrea
37	chr15:40587800-40589600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:40587800-40589600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr15:40587800-40589600	Enhancers	Brain Anterior Caudate	brain
40	chr15:40587800-40589600	Genic enhancers	Placenta	Placenta
41	chr15:40587800-40589600	Genic enhancers	Fetal Stomach	stomach
42	chr15:40588000-40596000	Enhancers	Fetal Heart	heart
43	chr15:40588200-40590000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:40588200-40590000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:40588400-40591200	Strong transcription	Spleen	Spleen
46	chr15:40588600-40591400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:40589000-40591000	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:40589000-40592800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr15:40589000-40593000	Weak transcription	Fetal Intestine Small	intestine
50	chr15:40589000-40599200	Weak transcription	Colon Smooth Muscle	Colon

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