Variant report

Variant	esv3414396
Chromosome Location	chr15:82581647-82777145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1907)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1907 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:82673641-82673955	GM12878	blood:	n/a	n/a
2	BATF	chr15:82628810-82629112	GM12878	blood:	n/a	chr15:82628929-82628940 chr15:82628930-82628940
3	BATF	chr15:82728054-82728346	GM12878	blood:	n/a	n/a
4	BATF	chr15:82635342-82635645	GM12878	blood:	n/a	n/a
5	BATF	chr15:82746325-82746541	GM12878	blood:	n/a	n/a
6	BATF	chr15:82649126-82649339	GM12878	blood:	n/a	n/a
7	BATF	chr15:82646624-82647685	GM12878	blood:	n/a	n/a
8	BATF	chr15:82760349-82760667	GM12878	blood:	n/a	n/a
9	BATF	chr15:82777126-82777358	GM12878	blood:	n/a	n/a
10	BATF	chr15:82673713-82673926	GM12878	blood:	n/a	n/a
11	BATF	chr15:82635360-82635695	GM12878	blood:	n/a	n/a
12	BATF	chr15:82737447-82737720	GM12878	blood:	n/a	n/a
13	BATF	chr15:82624274-82624643	GM12878	blood:	n/a	n/a
14	BATF	chr15:82736991-82737190	GM12878	blood:	n/a	n/a
15	BATF	chr15:82752463-82752853	GM12878	blood:	n/a	n/a
16	BATF	chr15:82737006-82737208	GM12878	blood:	n/a	n/a
17	BATF	chr15:82717647-82717871	GM12878	blood:	n/a	n/a
18	BATF	chr15:82738636-82738859	GM12878	blood:	n/a	n/a
19	BATF	chr15:82728062-82728346	GM12878	blood:	n/a	n/a
20	BATF	chr15:82732337-82732672	GM12878	blood:	n/a	n/a
21	BATF	chr15:82648537-82649104	GM12878	blood:	n/a	n/a
22	BATF	chr15:82646649-82647397	GM12878	blood:	n/a	n/a
23	BATF	chr15:82641723-82641920	GM12878	blood:	n/a	n/a
24	BATF	chr15:82649965-82650226	GM12878	blood:	n/a	n/a
25	BATF	chr15:82647923-82648177	GM12878	blood:	n/a	n/a
26	BATF	chr15:82657920-82658224	GM12878	blood:	n/a	n/a
27	BATF	chr15:82628844-82629008	GM12878	blood:	n/a	chr15:82628929-82628940 chr15:82628930-82628940
28	BATF	chr15:82648579-82648901	GM12878	blood:	n/a	n/a
29	BATF	chr15:82745549-82745735	GM12878	blood:	n/a	n/a
30	BATF	chr15:82592290-82592549	GM12878	blood:	n/a	n/a
31	BCL11A	chr15:82628765-82629006	GM12878	blood:	n/a	n/a
32	BCL11A	chr15:82727969-82728316	GM12878	blood:	n/a	n/a
33	BCL11A	chr15:82646718-82647599	GM12878	blood:	n/a	chr15:82647546-82647554
34	BCL11A	chr15:82728063-82728248	GM12878	blood:	n/a	n/a
35	BCL11A	chr15:82747045-82747256	GM12878	blood:	n/a	n/a
36	BCL11A	chr15:82647844-82648211	GM12878	blood:	n/a	chr15:82647979-82647992
37	BCL11A	chr15:82631776-82631984	GM12878	blood:	n/a	n/a
38	BCL11A	chr15:82736992-82737222	GM12878	blood:	n/a	n/a
39	BCL11A	chr15:82738262-82738451	GM12878	blood:	n/a	n/a
40	BCL11A	chr15:82751957-82752318	GM12878	blood:	n/a	n/a
41	BCL11A	chr15:82648566-82648934	GM12878	blood:	n/a	chr15:82648816-82648825
42	BCL11A	chr15:82658040-82658210	GM12878	blood:	n/a	n/a
43	BCL11A	chr15:82753050-82753333	GM12878	blood:	n/a	n/a
44	BCL11A	chr15:82648938-82649328	GM12878	blood:	n/a	n/a
45	BCL11A	chr15:82737122-82737380	GM12878	blood:	n/a	chr15:82737363-82737372
46	BCL11A	chr15:82775008-82775273	GM12878	blood:	n/a	chr15:82775172-82775181
47	BCL11A	chr15:82647877-82648123	GM12878	blood:	n/a	chr15:82647979-82647992
48	BCL11A	chr15:82752433-82752845	GM12878	blood:	n/a	n/a
49	BCL11A	chr15:82752482-82752776	GM12878	blood:	n/a	n/a
50	BCL11A	chr15:82649051-82649326	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82647396-82647446	SK-N-MC	brain:	n/a
2	chr15:82623834-82623884	T-47D	breast:	n/a
3	chr15:82623834-82623884	HPAEpiC	pulmonary alveolar:	n/a
4	chr15:82647396-82647446	H1-hESC	embryonic stem cell:	embryo
5	chr15:82618004-82618054	HRE	kidney:	n/a
6	chr15:82640457-82640507	ovcar-3	ovarian:	n/a
7	chr15:82618004-82618054	BJ	skin:	n/a
8	chr15:82618004-82618054	SK-N-SH	brain:	n/a
9	chr15:82618004-82618054	SK-N-SH_RA	brain:	n/a
10	chr15:82618004-82618054	Caco-2	colon:	n/a
11	chr15:82647396-82647446	NB4	blood:	n/a
12	chr15:82640457-82640507	GM12892	blood:	n/a
13	chr15:82647396-82647446	Hepatocyte	liver:	n/a
14	chr15:82640457-82640507	PANC-1	pancreas:	n/a
15	chr15:82647396-82647446	NHBE	bronchial:	n/a
16	chr15:82640457-82640507	SK-N-MC	brain:	n/a
17	chr15:82647396-82647446	NT2-D1	testis:	n/a
18	chr15:82647396-82647446	K562	blood:	n/a
19	chr15:82640457-82640507	HL-60	blood:	n/a
20	chr15:82623834-82623884	NT2-D1	testis:	n/a
21	chr15:82647396-82647446	U87	brain:	n/a
22	chr15:82640457-82640507	Caco-2	colon:	n/a
23	chr15:82623834-82623884	HIPEpiC	eye:	n/a
24	chr15:82623834-82623884	AG09319	gingival:	n/a
25	chr15:82647396-82647446	SK-N-SH	brain:	n/a
26	chr15:82647396-82647446	AG04450	lung:	fetal
27	chr15:82623834-82623884	PFSK-1	brain:	n/a
28	chr15:82623834-82623884	AG04450	lung:	fetal
29	chr15:82647396-82647446	HRPEpiC	eye:	n/a
30	chr15:82640457-82640507	Hela-S3	cervix:	n/a
31	chr15:82623834-82623884	Hepatocyte	liver:	n/a
32	chr15:82618004-82618054	BE2_C	brain:	n/a
33	chr15:82640457-82640507	HMEC	breast:	n/a
34	chr15:82618004-82618054	PFSK-1	brain:	n/a
35	chr15:82623834-82623884	GM06990	blood:	n/a
36	chr15:82640457-82640507	NB4	blood:	n/a
37	chr15:82618004-82618054	NHBE	bronchial:	n/a
38	chr15:82640457-82640507	NH-A	brain:	n/a
39	chr15:82618004-82618054	AG09309	skin:	n/a
40	chr15:82623834-82623884	MCF-7	breast:	n/a
41	chr15:82640457-82640507	GM06990	blood:	n/a
42	chr15:82623834-82623884	HRE	kidney:	n/a
43	chr15:82623834-82623884	AG10803	skin:	n/a
44	chr15:82640457-82640507	HCPEpiC	choroid plexus:	n/a
45	chr15:82640457-82640507	AG04449	skin:	fetal
46	chr15:82647396-82647446	HRCEpiC	kidney:	n/a
47	chr15:82623834-82623884	Jurkat	blood:	n/a
48	chr15:82618004-82618054	SAEC	small airway:	n/a
49	chr15:82623834-82623884	HCM	heart:	n/a
50	chr15:82623834-82623884	HAEpiC	amniotic membrane:	n/a

No data

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFTUD1-1	chr15:82639472-82639859	NONHSAT047778
2	lnc-GOLGA6L9-2	chr15:82707732-82707880	NONHSAT047780
3	lnc-GOLGA6L9-2	chr15:82696818-82696957	NONHSAT047779
4	lnc-GOLGA6L9-2	chr15:82710841-82710997	NONHSAT047780
5	lnc-EFTUD1-1	chr15:82641523-82641668	NONHSAT047778
6	lnc-GOLGA6L9-2	chr15:82692871-82692927	NONHSAT047779
7	lnc-GOLGA6L9-2	chr15:82711413-82711452	NONHSAT047779
8	lnc-GOLGA6L9-2	chr15:82707733-82708217	NONHSAT140249
9	lnc-GOLGA6L9-2	chr15:82711573-82711596	NONHSAT047780
10	lnc-GOLGA6L9-2	chr15:82704867-82704929	NONHSAT047779
11	lnc-GOLGA6L9-2	chr15:82711413-82711452	NONHSAT047780
12	lnc-GOLGA6L9-2	chr15:82722223-82722368	NONHSAT047782
13	lnc-GOLGA6L9-2	chr15:82684055-82684164	NONHSAT047779
14	lnc-GOLGA6L9-2	chr15:82699336-82699510	NONHSAT047779
15	lnc-RPS17-1	chr15:82770180-82770459	NONHSAT047792
16	lnc-GOLGA6L9-2	chr15:82706886-82707009	NONHSAT140249
17	lnc-GOLGA6L9-2	chr15:82724031-82724418	NONHSAT047782
18	lnc-GOLGA6L9-2	chr15:82700493-82700572	NONHSAT047779
19	lnc-GOLGA6L9-2	chr15:82712185-82712277	NONHSAT047779
20	lnc-FAM154B-1	chr15:82620233-82620571	NONHSAT047777

No data

Variant related genes	Relation type
UBE2Q2P6	TF binding region
GOLGA6L10	TF binding region
ENSG00000221095	TF binding region
ENSG00000259206	TF binding region
GOLGA6L9	TF binding region
CSPG4P8	TF binding region
ADAMTS7P1	TF binding region
RN7SL61P	TF binding region
UBE2Q2P2	TF binding region
ENSG00000255769	TF binding region
UBE2Q2P6	CpG island
GOLGA6L10	CpG island
ENSG00000221095	CpG island
ENSG00000259206	CpG island
GOLGA6L9	CpG island
CSPG4P8	CpG island
ADAMTS7P1	CpG island
RN7SL61P	CpG island
UBE2Q2P2	CpG island
ENSG00000255769	CpG island

Extended variants
information (count: 130 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547369909	chr15:82581699-82581700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111331994	chr15:82581738-82581739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373527873	chr15:82581740-82581741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535829845	chr15:82581747-82581748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549372807	chr15:82581757-82581758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190764078	chr15:82581782-82581783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62010071	chr15:82581783-82581784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs183009931	chr15:82581785-82581786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112427271	chr15:82581789-82581790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8025353	chr15:82581805-82581806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs554155109	chr15:82581808-82581809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs8026737	chr15:82581817-82581818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs192815386	chr15:82581821-82581822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562106763	chr15:82581849-82581850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182744593	chr15:82581878-82581879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544731454	chr15:82581926-82581927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565038108	chr15:82581957-82581958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527483895	chr15:82581973-82581974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374181333	chr15:82582021-82582022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547598871	chr15:82582074-82582075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187394766	chr15:82582116-82582117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529983882	chr15:82582156-82582157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555106446	chr15:82582194-82582195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559218585	chr15:82587804-82587805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543740653	chr15:82587846-82587847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62010094	chr15:82618652-82618653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62010097	chr15:82619739-82619740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563554721	chr15:82620261-82620262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs141755317	chr15:82620272-82620273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs545792395	chr15:82620303-82620304	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs56691927	chr15:82620307-82620308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs62010099	chr15:82620354-82620355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs547482733	chr15:82620365-82620366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs58875180	chr15:82620453-82620454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs59843064	chr15:82620454-82620455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs567461644	chr15:82620505-82620506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530215106	chr15:82620509-82620510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs373405493	chr15:82620539-82620540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs549988749	chr15:82620546-82620547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs570171348	chr15:82620557-82620558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs539279830	chr15:82620562-82620563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs558991341	chr15:82620563-82620564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs565666934	chr15:82620565-82620566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs184292627	chr15:82623845-82623846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75682514	chr15:82624062-82624063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79593888	chr15:82624084-82624085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76188209	chr15:82624095-82624096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561023859	chr15:82624098-82624099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530104866	chr15:82624178-82624179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181692134	chr15:82643762-82643763	Inactive region	TF binding region	2 gene(s)	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82580400-82581800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr15:82580800-82581800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:82581800-82582000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:82581800-82582200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:82582000-82582200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr15:82623800-82624400	Enhancers	Fetal Thymus	thymus
7	chr15:82648000-82648200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:82648000-82648400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:82648000-82648400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr15:82648000-82648400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:82648000-82648600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr15:82648000-82648600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:82648000-82648600	Active TSS	Fetal Brain Female	brain
14	chr15:82648000-82648600	Active TSS	Right Atrium	heart
15	chr15:82648000-82648600	Active TSS	Hela-S3	cervix
16	chr15:82648200-82648400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:82648200-82648600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:82648200-82648600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr15:82648200-82648600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:82648200-82648600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr15:82648200-82648600	Active TSS	NHEK	skin
22	chr15:82648400-82648600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr15:82691400-82691600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:82764600-82764800	Enhancers	HSMM	muscle

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