Variant report

Variant	esv1850132
Chromosome Location	chr15:82591292-82663969
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	BATF	chr15:82657920-82658224	GM12878	blood:	n/a	n/a
2	BATF	chr15:82649965-82650226	GM12878	blood:	n/a	n/a
3	BATF	chr15:82646649-82647397	GM12878	blood:	n/a	n/a
4	BATF	chr15:82628844-82629008	GM12878	blood:	n/a	chr15:82628929-82628940 chr15:82628930-82628940
5	BATF	chr15:82641723-82641920	GM12878	blood:	n/a	n/a
6	BATF	chr15:82624274-82624643	GM12878	blood:	n/a	n/a
7	BATF	chr15:82635342-82635645	GM12878	blood:	n/a	n/a
8	BATF	chr15:82648579-82648901	GM12878	blood:	n/a	n/a
9	BATF	chr15:82646624-82647685	GM12878	blood:	n/a	n/a
10	BATF	chr15:82592290-82592549	GM12878	blood:	n/a	n/a
11	BATF	chr15:82628810-82629112	GM12878	blood:	n/a	chr15:82628929-82628940 chr15:82628930-82628940
12	BATF	chr15:82635360-82635695	GM12878	blood:	n/a	n/a
13	BATF	chr15:82647923-82648177	GM12878	blood:	n/a	n/a
14	BATF	chr15:82648537-82649104	GM12878	blood:	n/a	n/a
15	BATF	chr15:82649126-82649339	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:82631776-82631984	GM12878	blood:	n/a	n/a
17	BCL11A	chr15:82641593-82641931	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:82637980-82638191	GM12878	blood:	n/a	n/a
19	BCL11A	chr15:82635459-82635644	GM12878	blood:	n/a	n/a
20	BCL11A	chr15:82648938-82649328	GM12878	blood:	n/a	n/a
21	BCL11A	chr15:82649051-82649326	GM12878	blood:	n/a	n/a
22	BCL11A	chr15:82628765-82629006	GM12878	blood:	n/a	n/a
23	BCL11A	chr15:82648513-82648858	GM12878	blood:	n/a	chr15:82648816-82648825
24	BCL11A	chr15:82647877-82648123	GM12878	blood:	n/a	chr15:82647979-82647992
25	BCL11A	chr15:82658040-82658210	GM12878	blood:	n/a	n/a
26	BCL11A	chr15:82646585-82647615	GM12878	blood:	n/a	chr15:82647546-82647554
27	BCL11A	chr15:82635116-82635305	GM12878	blood:	n/a	n/a
28	BCL11A	chr15:82624250-82624656	GM12878	blood:	n/a	n/a
29	BCL11A	chr15:82646718-82647599	GM12878	blood:	n/a	chr15:82647546-82647554
30	BCL11A	chr15:82647844-82648211	GM12878	blood:	n/a	chr15:82647979-82647992
31	BCL11A	chr15:82648566-82648934	GM12878	blood:	n/a	chr15:82648816-82648825
32	BCL11A	chr15:82635391-82635738	GM12878	blood:	n/a	n/a
33	BHLHE40	chr15:82649314-82649588	HepG2	liver:	n/a	n/a
34	BHLHE40	chr15:82635378-82635645	HepG2	liver:	n/a	n/a
35	BHLHE40	chr15:82647024-82647567	HepG2	liver:	n/a	n/a
36	CBX3	chr15:82630490-82630837	K562	blood:	n/a	n/a
37	CTCF	chr15:82658028-82658177	HepG2	liver:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
38	CTCF	chr15:82657840-82657990	HCM	heart:	n/a	n/a
39	CTCF	chr15:82605199-82605291	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr15:82599404-82599603	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr15:82621480-82621639	GM10248	blood:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
42	CTCF	chr15:82601126-82601184	Medullo	brain:	n/a	n/a
43	CTCF	chr15:82609783-82609843	GM19239	blood:	n/a	n/a
44	CTCF	chr15:82595412-82595459	GM12892	blood:	n/a	chr15:82595440-82595456
45	CTCF	chr15:82660040-82660190	HEK293	kidney:	n/a	n/a
46	CTCF	chr15:82657820-82657970	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr15:82661154-82661226	GM10248	blood:	n/a	n/a
48	CTCF	chr15:82605167-82605304	MCF-7	breast:	n/a	n/a
49	CTCF	chr15:82621558-82621581	GM19240	blood:	n/a	n/a
50	CTCF	chr15:82658019-82658176	GM19239	blood:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82618004-82618054	HMEC	breast:	n/a
2	chr15:82623834-82623884	HRE	kidney:	n/a
3	chr15:82647396-82647446	BJ	skin:	n/a
4	chr15:82623834-82623884	HRPEpiC	eye:	n/a
5	chr15:82618004-82618054	PrEC	prostate:	n/a
6	chr15:82647396-82647446	HNPCEpiC	eye:	n/a
7	chr15:82647396-82647446	MCF10A-Er-Src	breast:	n/a
8	chr15:82640457-82640507	RPTEC	kidney:	n/a
9	chr15:82647396-82647446	Hepatocyte	liver:	n/a
10	chr15:82618004-82618054	PANC-1	pancreas:	n/a
11	chr15:82640457-82640507	LNCaP	prostate:	n/a
12	chr15:82640457-82640507	HRPEpiC	eye:	n/a
13	chr15:82618004-82618054	HCM	heart:	n/a
14	chr15:82647396-82647446	CMK	blood:	n/a
15	chr15:82640457-82640507	Hela-S3	cervix:	n/a
16	chr15:82623834-82623884	RPTEC	kidney:	n/a
17	chr15:82623834-82623884	HAEpiC	amniotic membrane:	n/a
18	chr15:82618004-82618054	MCF10A-Er-Src	breast:	n/a
19	chr15:82640457-82640507	HCT-116	colon:	n/a
20	chr15:82647396-82647446	HAEpiC	amniotic membrane:	n/a
21	chr15:82623834-82623884	GM12892	blood:	n/a
22	chr15:82623834-82623884	HL-60	blood:	n/a
23	chr15:82640457-82640507	GM12878	blood:	n/a
24	chr15:82640457-82640507	AG04449	skin:	fetal
25	chr15:82647396-82647446	HUVEC	blood vessel:	n/a
26	chr15:82640457-82640507	AG04450	lung:	fetal
27	chr15:82647396-82647446	BE2_C	brain:	n/a
28	chr15:82618004-82618054	HCPEpiC	choroid plexus:	n/a
29	chr15:82640457-82640507	HNPCEpiC	eye:	n/a
30	chr15:82640457-82640507	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:82640457-82640507	SK-N-MC	brain:	n/a
32	chr15:82647396-82647446	PFSK-1	brain:	n/a
33	chr15:82647396-82647446	HCM	heart:	n/a
34	chr15:82640457-82640507	HCPEpiC	choroid plexus:	n/a
35	chr15:82623834-82623884	ovcar-3	ovarian:	n/a
36	chr15:82647396-82647446	HEK293	kidney:	embryo
37	chr15:82640457-82640507	NT2-D1	testis:	n/a
38	chr15:82618004-82618054	RPTEC	kidney:	n/a
39	chr15:82647396-82647446	SK-N-SH_RA	brain:	n/a
40	chr15:82623834-82623884	MCF10A-Er-Src	breast:	n/a
41	chr15:82640457-82640507	HL-60	blood:	n/a
42	chr15:82640457-82640507	Jurkat	blood:	n/a
43	chr15:82640457-82640507	HRCEpiC	kidney:	n/a
44	chr15:82640457-82640507	NHBE	bronchial:	n/a
45	chr15:82640457-82640507	CMK	blood:	n/a
46	chr15:82623834-82623884	HCT-116	colon:	n/a
47	chr15:82640457-82640507	Caco-2	colon:	n/a
48	chr15:82618004-82618054	GM06990	blood:	n/a
49	chr15:82647396-82647446	HCF	heart:	n/a
50	chr15:82640457-82640507	HUVEC	blood vessel:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFTUD1-1	chr15:82641523-82641668	NONHSAT047778
2	lnc-EFTUD1-1	chr15:82639472-82639859	NONHSAT047778
3	lnc-FAM154B-1	chr15:82620233-82620571	NONHSAT047777

Variant related genes	Relation type
GOLGA6L10	TF binding region
ADAMTS7P1	TF binding region
UBE2Q2P2	TF binding region
GOLGA6L10	CpG island
ADAMTS7P1	CpG island
UBE2Q2P2	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62010094	chr15:82618652-82618653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62010097	chr15:82619739-82619740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563554721	chr15:82620261-82620262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs141755317	chr15:82620272-82620273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545792395	chr15:82620303-82620304	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs56691927	chr15:82620307-82620308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs62010099	chr15:82620354-82620355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs547482733	chr15:82620365-82620366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs58875180	chr15:82620453-82620454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs59843064	chr15:82620454-82620455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567461644	chr15:82620505-82620506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530215106	chr15:82620509-82620510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs373405493	chr15:82620539-82620540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549988749	chr15:82620546-82620547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs570171348	chr15:82620557-82620558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs539279830	chr15:82620562-82620563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs558991341	chr15:82620563-82620564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs565666934	chr15:82620565-82620566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs184292627	chr15:82623845-82623846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75682514	chr15:82624062-82624063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79593888	chr15:82624084-82624085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76188209	chr15:82624095-82624096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561023859	chr15:82624098-82624099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530104866	chr15:82624178-82624179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181692134	chr15:82643762-82643763	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs62010145	chr15:82643928-82643929	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs468718	chr15:82644518-82644519	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs3874286	chr15:82644574-82644575	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs377272328	chr15:82645394-82645395	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs7402612	chr15:82646115-82646116	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs187150538	chr15:82646245-82646246	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs577239593	chr15:82646248-82646249	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs546295973	chr15:82646251-82646252	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs369967647	chr15:82646491-82646492	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs371717195	chr15:82646504-82646505	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs227538	chr15:82646950-82646951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559944491	chr15:82647351-82647352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528697974	chr15:82647353-82647354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs62010149	chr15:82648123-82648124	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199521677	chr15:82648210-82648211	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577820372	chr15:82648285-82648286	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192121199	chr15:82648293-82648294	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370103736	chr15:82648491-82648492	Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578251473	chr15:82648511-82648512	Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82623800-82624400	Enhancers	Fetal Thymus	thymus
2	chr15:82648000-82648200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr15:82648000-82648400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:82648000-82648400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr15:82648000-82648400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:82648000-82648600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr15:82648000-82648600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:82648000-82648600	Active TSS	Fetal Brain Female	brain
9	chr15:82648000-82648600	Active TSS	Right Atrium	heart
10	chr15:82648000-82648600	Active TSS	Hela-S3	cervix
11	chr15:82648200-82648400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:82648200-82648600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:82648200-82648600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr15:82648200-82648600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:82648200-82648600	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr15:82648200-82648600	Active TSS	NHEK	skin
17	chr15:82648400-82648600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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