Variant report

Variant	esv3412645
Chromosome Location	chr15:52968539-52968762
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:52965949..52968646-chr15:53025332..53028243,3	MCF-7	breast:
2	chr15:52942408..52952117-chr15:52965431..52973600,32	MCF-7	breast:
3	chr15:52856629..52859409-chr15:52967140..52969725,2	K562	blood:
4	chr15:52586406..52588610-chr15:52967332..52968864,2	MCF-7	breast:
5	chr15:52855349..52864927-chr15:52966670..52972620,15	MCF-7	breast:
6	chr15:52967401..52973659-chr15:53000765..53004676,11	MCF-7	breast:
7	chr15:52580574..52582076-chr15:52967362..52969063,2	MCF-7	breast:
8	chr15:52968259..52973250-chr15:52997483..53005703,18	MCF-7	breast:
9	chr15:52966230..52968677-chr15:52969167..52971307,2	K562	blood:
10	chr15:52859855..52863944-chr15:52968349..52971887,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000047346	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000128833	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575629260	chr15:52968539-52968540	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201158618	chr15:52968588-52968589	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs367644044	chr15:52968604-52968605	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs569890222	chr15:52968626-52968627	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546228409	chr15:52968675-52968676	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs5812619	chr15:52968714-52968715	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs181948348	chr15:52968727-52968728	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572811840	chr15:52968732-52968733	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs1991300	chr15:52968746-52968747	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561569386	chr15:52968750-52968751	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52944400-52969600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:52944400-52970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:52944600-52969800	Weak transcription	Fetal Brain Male	brain
4	chr15:52945000-52968600	Weak transcription	HepG2	liver
5	chr15:52946000-52968600	Weak transcription	Stomach Mucosa	stomach
6	chr15:52950400-52969400	Weak transcription	A549	lung
7	chr15:52951000-52970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:52957400-52970000	Weak transcription	Colonic Mucosa	Colon
9	chr15:52957400-52970000	Weak transcription	Lung	lung
10	chr15:52960000-52969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:52960400-52969600	Weak transcription	HMEC	breast
12	chr15:52960600-52969400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:52960600-52969400	Weak transcription	NHEK	skin
14	chr15:52960600-52970000	Weak transcription	Small Intestine	intestine
15	chr15:52961600-52969000	Strong transcription	Osteobl	bone
16	chr15:52962200-52969800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:52962400-52969400	Weak transcription	Fetal Stomach	stomach
18	chr15:52962600-52968600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:52962600-52969800	Weak transcription	Right Ventricle	heart
20	chr15:52962600-52970200	Weak transcription	Gastric	stomach
21	chr15:52962600-52970400	Weak transcription	Spleen	Spleen
22	chr15:52962800-52969400	Weak transcription	Aorta	Aorta
23	chr15:52963000-52969600	Weak transcription	NHLF	lung
24	chr15:52963000-52970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:52963600-52968800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr15:52964000-52969000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:52964200-52968600	Weak transcription	Fetal Kidney	kidney
28	chr15:52964600-52969400	Weak transcription	Thymus	Thymus
29	chr15:52964600-52969800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:52964600-52970000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:52965000-52968800	Genic enhancers	Primary B cells from cord blood	blood
32	chr15:52965000-52969000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr15:52965000-52969800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:52965200-52969000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr15:52965400-52969600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:52965400-52969800	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr15:52965800-52969000	Weak transcription	Fetal Brain Female	brain
38	chr15:52965800-52969600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:52965800-52969600	Weak transcription	HSMMtube	muscle
40	chr15:52966000-52969600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:52966200-52968600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:52966200-52968800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:52966200-52968800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:52966200-52969400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:52966200-52969400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:52966200-52969600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:52966400-52969600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:52966400-52969800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:52966600-52968600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:52966600-52969000	Strong transcription	Primary monocytes fromperipheralblood	blood

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