Variant report

Variant	esv3341264
Chromosome Location	chr15:49663460-49664908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:49664840-49664990	BE2_C	brain:	n/a	n/a
2	CTCF	chr15:49662839-49663528	SK-N-SH	brain:	n/a	chr15:49663197-49663215 chr15:49663199-49663220 chr15:49663198-49663214
3	CTCF	chr15:49663038-49663522	HCT-116	colon:	n/a	chr15:49663197-49663215 chr15:49663199-49663220 chr15:49663198-49663214
4	GATA3	chr15:49664857-49665050	SH-SY5Y	brain:	n/a	n/a
5	JUN	chr15:49663453-49663495	K562	blood:	n/a	n/a
6	MAX	chr15:49664740-49664901	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr15:49664684-49664862	H1-hESC	embryonic stem cell:	n/a	n/a
8	POU5F1	chr15:49664633-49665018	H1-hESC	embryonic stem cell:	n/a	chr15:49664787-49664796 chr15:49664785-49664796 chr15:49664785-49664794
9	RAD21	chr15:49662812-49663641	SK-N-SH	brain:	n/a	chr15:49663198-49663217
10	SIN3A	chr15:49664647-49664784	H1-hESC	embryonic stem cell:	n/a	n/a
11	STAT3	chr15:49663094-49663504	MCF10A-Er-Src	breast:	n/a	n/a
12	USF1	chr15:49664709-49664909	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr15:49664647-49664683	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49663197..49663716-chr15:50437294..50437821,2	K562	blood:
2	chr15:49662846..49663716-chr15:49714002..49714753,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259531	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199971746	chr15:49663506-49663507	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs147388904	chr15:49663514-49663515	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200397296	chr15:49663534-49663535	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143135128	chr15:49663547-49663548	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538375897	chr15:49663548-49663549	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375798990	chr15:49663553-49663554	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369064258	chr15:49663583-49663584	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371981118	chr15:49663587-49663588	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs145082626	chr15:49663592-49663593	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375286606	chr15:49663632-49663633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537970945	chr15:49663684-49663685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370455293	chr15:49663698-49663699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571776339	chr15:49663764-49663765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542609267	chr15:49663772-49663773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552486559	chr15:49663787-49663788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565883861	chr15:49663791-49663792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71467675	chr15:49663803-49663804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12908698	chr15:49663804-49663805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12908709	chr15:49663814-49663815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560715733	chr15:49663836-49663837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577943963	chr15:49663838-49663839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192969859	chr15:49663842-49663843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185594682	chr15:49663868-49663869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190271278	chr15:49663883-49663884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565505912	chr15:49663901-49663902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181962658	chr15:49663924-49663925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547975507	chr15:49663948-49663949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559664727	chr15:49663956-49663957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185144227	chr15:49663982-49663983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374448636	chr15:49664008-49664009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368653064	chr15:49664034-49664035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369059759	chr15:49664054-49664055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188286895	chr15:49664081-49664082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71992793	chr15:49664113-49664114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181260338	chr15:49664126-49664127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186501808	chr15:49664128-49664129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373266267	chr15:49664157-49664158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200889950	chr15:49664163-49664164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201121352	chr15:49664189-49664190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139607223	chr15:49664215-49664216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149745620	chr15:49664241-49664242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111217953	chr15:49664253-49664254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191761864	chr15:49664258-49664259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62637730	chr15:49664267-49664268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111556158	chr15:49664279-49664280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183323989	chr15:49664284-49664285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187037403	chr15:49664293-49664294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190737974	chr15:49664310-49664311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183249322	chr15:49664319-49664320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71394973	chr15:49664336-49664337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Aromatase excess syndrome	21470988	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49662000-49664600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr15:49662800-49664600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:49663400-49663600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr15:49663400-49664400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:49663600-49664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:49664400-49665000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:49664400-49665200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:49664400-49665200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:49664400-49665200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr15:49664400-49665600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr15:49664600-49665000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr15:49664600-49665000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:49664600-49665000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr15:49664600-49665000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr15:49664600-49665000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:49664600-49665200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:49664600-49665200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr15:49664600-49665200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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