Variant report

Variant	esv11776
Chromosome Location	chr15:82937940-82992972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1046)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:82944794-82944809	K562	blood:	n/a	n/a
2	BATF	chr15:82944170-82944728	GM12878	blood:	n/a	n/a
3	BATF	chr15:82946072-82946394	GM12878	blood:	n/a	n/a
4	BATF	chr15:82946030-82946597	GM12878	blood:	n/a	n/a
5	BATF	chr15:82947458-82947719	GM12878	blood:	n/a	n/a
6	BATF	chr15:82945410-82945664	GM12878	blood:	n/a	n/a
7	BATF	chr15:82939214-82939411	GM12878	blood:	n/a	n/a
8	BATF	chr15:82979173-82979491	GM12878	blood:	n/a	n/a
9	BATF	chr15:82946619-82946832	GM12878	blood:	n/a	n/a
10	BATF	chr15:82944111-82945156	GM12878	blood:	n/a	n/a
11	BATF	chr15:82962463-82962706	GM12878	blood:	n/a	n/a
12	BATF	chr15:82951589-82951845	GM12878	blood:	n/a	chr15:82951597-82951605
13	BATF	chr15:82987021-82987376	GM12878	blood:	n/a	n/a
14	BCL11A	chr15:82986454-82986686	GM12878	blood:	n/a	chr15:82986531-82986540
15	BCL11A	chr15:82951658-82951896	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:82946544-82946819	GM12878	blood:	n/a	n/a
17	BCL11A	chr15:82979149-82979488	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:82987063-82987357	GM12878	blood:	n/a	n/a
19	BCL11A	chr15:82986506-82986789	GM12878	blood:	n/a	chr15:82986531-82986540
20	BCL11A	chr15:82945331-82945697	GM12878	blood:	n/a	chr15:82945466-82945479
21	BCL11A	chr15:82964566-82964831	GM12878	blood:	n/a	chr15:82964693-82964702
22	BCL11A	chr15:82987691-82987888	GM12878	blood:	n/a	n/a
23	BCL11A	chr15:82992632-82992843	GM12878	blood:	n/a	n/a
24	BCL11A	chr15:82946006-82946351	GM12878	blood:	n/a	chr15:82946309-82946318
25	BCL11A	chr15:82944227-82945197	GM12878	blood:	n/a	chr15:82945033-82945041
26	BCL11A	chr15:82961608-82961945	GM12878	blood:	n/a	n/a
27	BCL11A	chr15:82945364-82945610	GM12878	blood:	n/a	chr15:82945466-82945479
28	BCL11A	chr15:82944072-82945102	GM12878	blood:	n/a	chr15:82945033-82945041
29	BCL11A	chr15:82946059-82946427	GM12878	blood:	n/a	chr15:82946309-82946318
30	BCL11A	chr15:82986994-82987406	GM12878	blood:	n/a	n/a
31	BCL11A	chr15:82961581-82961994	GM12878	blood:	n/a	n/a
32	BCL11A	chr15:82939084-82939422	GM12878	blood:	n/a	n/a
33	BCL11A	chr15:82946451-82946821	GM12878	blood:	n/a	n/a
34	BHLHE40	chr15:82944511-82945054	HepG2	liver:	n/a	n/a
35	BHLHE40	chr15:82944616-82944989	K562	blood:	n/a	n/a
36	BHLHE40	chr15:82979096-82979342	HepG2	liver:	n/a	n/a
37	BHLHE40	chr15:82944792-82944831	GM12878	blood:	n/a	n/a
38	CBX3	chr15:82979137-82979384	K562	blood:	n/a	n/a
39	CBX3	chr15:82986738-82987446	K562	blood:	n/a	n/a
40	CBX3	chr15:82991226-82991495	K562	blood:	n/a	n/a
41	CBX3	chr15:82990722-82991933	K562	blood:	n/a	n/a
42	CBX3	chr15:82944401-82945015	K562	blood:	n/a	n/a
43	CBX3	chr15:82986650-82987473	K562	blood:	n/a	n/a
44	CBX3	chr15:82979111-82979464	K562	blood:	n/a	n/a
45	CEBPB	chr15:82944619-82944934	K562	blood:	n/a	n/a
46	CEBPB	chr15:82944634-82944817	K562	blood:	n/a	n/a
47	CEBPB	chr15:82986975-82987350	K562	blood:	n/a	n/a
48	CEBPD	chr15:82979032-82979425	K562	blood:	n/a	n/a
49	CEBPD	chr15:82990076-82990480	K562	blood:	n/a	n/a
50	CHD2	chr15:82944617-82944828	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82944287-82944337	NH-A	brain:	n/a
2	chr15:82944254-82944304	Caco-2	colon:	n/a
3	chr15:82959442-82959492	AG10803	skin:	n/a
4	chr15:82944254-82944304	HAEpiC	amniotic membrane:	n/a
5	chr15:82944287-82944337	NHBE	bronchial:	n/a
6	chr15:82959442-82959492	K562	blood:	n/a
7	chr15:82944254-82944304	CMK	blood:	n/a
8	chr15:82944287-82944337	HPAEpiC	pulmonary alveolar:	n/a
9	chr15:82944287-82944337	HepG2	liver:	n/a
10	chr15:82944254-82944304	SAEC	small airway:	n/a
11	chr15:82944287-82944337	MCF10A-Er-Src	breast:	n/a
12	chr15:82959442-82959492	SK-N-MC	brain:	n/a
13	chr15:82959442-82959492	MCF10A-Er-Src	breast:	n/a
14	chr15:82959442-82959492	NT2-D1	testis:	n/a
15	chr15:82944254-82944304	SK-N-SH_RA	brain:	n/a
16	chr15:82944254-82944304	T-47D	breast:	n/a
17	chr15:82944287-82944337	HMEC	breast:	n/a
18	chr15:82944287-82944337	K562	blood:	n/a
19	chr15:82944254-82944304	ovcar-3	ovarian:	n/a
20	chr15:82944287-82944337	Caco-2	colon:	n/a
21	chr15:82944287-82944337	ECC-1	luminal epithelium:	n/a
22	chr15:82944287-82944337	HL-60	blood:	n/a
23	chr15:82944287-82944337	GM19239	blood:	n/a
24	chr15:82959442-82959492	HCM	heart:	n/a
25	chr15:82959442-82959492	PrEC	prostate:	n/a
26	chr15:82944254-82944304	HCPEpiC	choroid plexus:	n/a
27	chr15:82944254-82944304	AG10803	skin:	n/a
28	chr15:82944287-82944337	ovcar-3	ovarian:	n/a
29	chr15:82944287-82944337	AG04450	lung:	fetal
30	chr15:82944287-82944337	HNPCEpiC	eye:	n/a
31	chr15:82959442-82959492	HUVEC	blood vessel:	n/a
32	chr15:82944254-82944304	SK-N-SH	brain:	n/a
33	chr15:82959442-82959492	MCF-7	breast:	n/a
34	chr15:82944254-82944304	MCF-7	breast:	n/a
35	chr15:82944287-82944337	MCF-7	breast:	n/a
36	chr15:82959442-82959492	ECC-1	luminal epithelium:	n/a
37	chr15:82944287-82944337	LNCaP	prostate:	n/a
38	chr15:82944287-82944337	NB4	blood:	n/a
39	chr15:82944254-82944304	HMEC	breast:	n/a
40	chr15:82944254-82944304	U87	brain:	n/a
41	chr15:82944287-82944337	T-47D	breast:	n/a
42	chr15:82944287-82944337	SK-N-SH_RA	brain:	n/a
43	chr15:82959442-82959492	Caco-2	colon:	n/a
44	chr15:82959442-82959492	ovcar-3	ovarian:	n/a
45	chr15:82944287-82944337	HCM	heart:	n/a
46	chr15:82944254-82944304	GM12892	blood:	n/a
47	chr15:82944254-82944304	NHDF-neo	bronchial:	n/a
48	chr15:82959442-82959492	GM19239	blood:	n/a
49	chr15:82944254-82944304	HCM	heart:	n/a
50	chr15:82944287-82944337	AG09309	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152F13.5.1-3	chr15:82969419-82969698	NONHSAT047808
2	lnc-RP13-996F3.5.1-1	chr15:82939014-82939159	NONHSAT047801

No data

Variant related genes	Relation type
RN7SL256P	TF binding region
CSPG4P9	TF binding region
ENSG00000259323	TF binding region
ENSG00000259328	TF binding region
ENSG00000221177	TF binding region
GOLGA6L18	TF binding region
RN7SL256P	CpG island
CSPG4P9	CpG island
ENSG00000259323	CpG island
ENSG00000259328	CpG island
ENSG00000221177	CpG island
GOLGA6L18	CpG island

Extended variants
information (count: 101 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2695713	chr15:82941058-82941059	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs140879168	chr15:82943523-82943524	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs200093204	chr15:82943733-82943734	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs113206471	chr15:82944329-82944330	Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs539366409	chr15:82945671-82945672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112055686	chr15:82945697-82945698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181074183	chr15:82945748-82945749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373657694	chr15:82945775-82945776	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375902415	chr15:82959184-82959185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202056082	chr15:82959188-82959189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368604452	chr15:82959222-82959223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76352111	chr15:82959234-82959235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75554775	chr15:82959244-82959245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569198699	chr15:82959245-82959246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80185306	chr15:82959252-82959253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150910761	chr15:82959282-82959283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561851300	chr15:82959293-82959294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201697700	chr15:82959294-82959295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144066606	chr15:82959295-82959296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141281588	chr15:82959298-82959299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200825866	chr15:82959306-82959307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201801136	chr15:82959309-82959310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550329458	chr15:82959311-82959312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376765299	chr15:82959327-82959328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570323848	chr15:82959333-82959334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539303109	chr15:82959369-82959370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149530092	chr15:82959810-82959811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79430563	chr15:82959860-82959861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574840266	chr15:82959873-82959874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147200883	chr15:82959882-82959883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140495351	chr15:82959912-82959913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs390120	chr15:82959925-82959926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557540909	chr15:82959938-82959939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533011017	chr15:82960035-82960036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147259331	chr15:82960062-82960063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185675949	chr15:82960069-82960070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546507312	chr15:82960097-82960098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373723283	chr15:82960138-82960139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113558179	chr15:82960220-82960221	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145694562	chr15:82960228-82960229	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560027135	chr15:82960248-82960249	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572730867	chr15:82960282-82960283	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377667630	chr15:82960319-82960320	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142254601	chr15:82960355-82960356	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs369556149	chr15:82960356-82960357	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373550697	chr15:82960360-82960361	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561547513	chr15:82960377-82960378	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530484028	chr15:82960386-82960387	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150910553	chr15:82960406-82960407	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150059300	chr15:82960417-82960418	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82944200-82944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:82944200-82945200	Active TSS	Fetal Intestine Large	intestine
3	chr15:82944200-82945400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr15:82944200-82945800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:82944600-82945000	Active TSS	K562	blood
6	chr15:82944600-82945200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:82944600-82945400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:82944800-82945200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:82944800-82945200	Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr15:82944800-82945200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:82944800-82945200	Active TSS	Fetal Stomach	stomach
12	chr15:82944800-82945200	Active TSS	HSMMtube	muscle
13	chr15:82944800-82945400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:82944800-82945400	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr15:82944800-82945400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:82944800-82945400	Active TSS	Fetal Brain Female	brain
17	chr15:82944800-82945400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr15:82944800-82945400	Active TSS	Ovary	ovary
19	chr15:82944800-82945400	Active TSS	Pancreas	Pancrea
20	chr15:82944800-82945400	Active TSS	Right Atrium	heart
21	chr15:82944800-82945400	Active TSS	HSMM	muscle
22	chr15:82944800-82945800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:82945000-82945400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:82958200-82958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr15:82959000-82959600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:82959800-82960200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:82959800-82960600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:82959800-82960600	Enhancers	Stomach Mucosa	stomach
29	chr15:82960200-82960600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr15:82960400-82960600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:82960400-82960800	Active TSS	Rectal Mucosa Donor 29	rectum

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