Variant report

Variant	esv15653
Chromosome Location	chr15:31908441-32019557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:606)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:31931274-31931549	HepG2	liver:	n/a	n/a
2	BATF	chr15:32000226-32001224	GM12878	blood:	n/a	n/a
3	BATF	chr15:32000178-32001424	GM12878	blood:	n/a	n/a
4	BATF	chr15:31988766-31989052	GM12878	blood:	n/a	chr15:31988893-31988904
5	BATF	chr15:31942586-31942812	GM12878	blood:	n/a	n/a
6	BATF	chr15:32011784-32012022	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:31942588-31942835	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:32000155-32001213	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:32000199-32001212	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:32001441-32001689	GM12878	blood:	n/a	n/a
11	BHLHE40	chr15:32000379-32000409	GM12878	blood:	n/a	n/a
12	CEBPB	chr15:31931264-31931579	IMR90	lung:	n/a	chr15:31931452-31931463
13	CEBPB	chr15:31972095-31972264	HepG2	liver:	n/a	n/a
14	CEBPB	chr15:31931269-31931571	HepG2	liver:	n/a	chr15:31931452-31931463
15	CEBPB	chr15:31931258-31931592	HepG2	liver:	n/a	chr15:31931452-31931463
16	CEBPB	chr15:31931263-31931553	MCF-7	breast:	n/a	chr15:31931452-31931463
17	CEBPB	chr15:31931278-31931622	H1-hESC	embryonic stem cell:	n/a	chr15:31931452-31931463
18	CEBPB	chr15:31931265-31931648	A549	lung:	n/a	chr15:31931452-31931463
19	CEBPB	chr15:31931263-31931645	HepG2	liver:	n/a	chr15:31931452-31931463
20	CEBPB	chr15:31908180-31908480	HepG2	liver:	n/a	chr15:31908327-31908338
21	CEBPB	chr15:31908263-31908457	K562	blood:	n/a	chr15:31908327-31908338
22	CEBPB	chr15:31931279-31931549	MCF-7	breast:	n/a	chr15:31931452-31931463
23	CEBPB	chr15:31931202-31931649	Hela-S3	cervix:	n/a	chr15:31931452-31931463
24	CEBPB	chr15:32000178-32001226	GM12878	blood:	n/a	n/a
25	CEBPB	chr15:31931277-31931549	A549	lung:	n/a	chr15:31931452-31931463
26	CEBPB	chr15:31931268-31931680	A549	lung:	n/a	chr15:31931452-31931463
27	CEBPB	chr15:31931269-31931505	HepG2	liver:	n/a	chr15:31931452-31931463
28	CEBPB	chr15:31931325-31931534	K562	blood:	n/a	chr15:31931452-31931463
29	CEBPD	chr15:31931258-31931526	HepG2	liver:	n/a	n/a
30	CTCF	chr15:31922374-31922427	GM20000	blood:	n/a	n/a
31	CTCF	chr15:31942600-31942750	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr15:31942541-31942869	Medullo	brain:	n/a	n/a
33	CTCF	chr15:31942390-31942496	Fibrobl	skin:	n/a	n/a
34	CTCF	chr15:31942600-31942750	HEK293	kidney:	n/a	n/a
35	CTCF	chr15:31931324-31931428	HepG2	liver:	n/a	n/a
36	CTCF	chr15:31942640-31942790	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr15:31942495-31942512	GM10266	blood:	n/a	n/a
38	CTCF	chr15:32002718-32002791	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr15:31961546-31961582	Gliobla	brain:	n/a	n/a
40	CTCF	chr15:31942034-31942037	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:31942419-31942470	ProgFib	skin:	n/a	n/a
42	CTCF	chr15:31942627-31942806	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr15:31985906-31985962	GM19239	blood:	n/a	n/a
44	CTCF	chr15:31941899-31942015	GM19239	blood:	n/a	n/a
45	CTCF	chr15:31942554-31942850	GM12878	blood:	n/a	n/a
46	CTCF	chr15:31942347-31942856	GM19238	blood:	n/a	n/a
47	CTCF	chr15:31942600-31942750	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr15:31942600-31942750	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr15:31942640-31942790	RPTEC	kidney:	n/a	n/a
50	CTCF	chr15:31942319-31942464	GM10248	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:31948632-31948682	HIPEpiC	eye:	n/a
2	chr15:31948632-31948682	IMR90	lung:	fetal
3	chr15:31948075-31948125	K562	blood:	n/a
4	chr15:31948075-31948125	ovcar-3	ovarian:	n/a
5	chr15:31948632-31948682	PrEC	prostate:	n/a
6	chr15:31948075-31948125	AG10803	skin:	n/a
7	chr15:31948632-31948682	H1-hESC	embryonic stem cell:	embryo
8	chr15:31948632-31948682	HNPCEpiC	eye:	n/a
9	chr15:31948075-31948125	GM06990	blood:	n/a
10	chr15:31948075-31948125	GM12892	blood:	n/a
11	chr15:31948075-31948125	BE2_C	brain:	n/a
12	chr15:31948632-31948682	GM12878	blood:	n/a
13	chr15:31948632-31948682	HUVEC	blood vessel:	n/a
14	chr15:31948075-31948125	HIPEpiC	eye:	n/a
15	chr15:31948075-31948125	AG04449	skin:	fetal
16	chr15:31948632-31948682	MCF-7	breast:	n/a
17	chr15:31948632-31948682	NH-A	brain:	n/a
18	chr15:31948632-31948682	PANC-1	pancreas:	n/a
19	chr15:31948632-31948682	GM12892	blood:	n/a
20	chr15:31948075-31948125	SK-N-SH_RA	brain:	n/a
21	chr15:31948075-31948125	MCF-7	breast:	n/a
22	chr15:31948632-31948682	GM19239	blood:	n/a
23	chr15:31948075-31948125	HNPCEpiC	eye:	n/a
24	chr15:31948632-31948682	GM06990	blood:	n/a
25	chr15:31948632-31948682	AG04449	skin:	fetal
26	chr15:31948075-31948125	ProgFib	skin:	n/a
27	chr15:31948632-31948682	HRPEpiC	eye:	n/a
28	chr15:31948632-31948682	NT2-D1	testis:	n/a
29	chr15:31948632-31948682	BJ	skin:	n/a
30	chr15:31948632-31948682	AG09319	gingival:	n/a
31	chr15:31948075-31948125	AG09309	skin:	n/a
32	chr15:31948632-31948682	ovcar-3	ovarian:	n/a
33	chr15:31948632-31948682	NHBE	bronchial:	n/a
34	chr15:31948632-31948682	HMEC	breast:	n/a
35	chr15:31948075-31948125	AG04450	lung:	fetal
36	chr15:31948075-31948125	Hela-S3	cervix:	n/a
37	chr15:31948632-31948682	LNCaP	prostate:	n/a
38	chr15:31948632-31948682	Jurkat	blood:	n/a
39	chr15:31948632-31948682	CMK	blood:	n/a
40	chr15:31948632-31948682	Hela-S3	cervix:	n/a
41	chr15:31948075-31948125	NHBE	bronchial:	n/a
42	chr15:31948075-31948125	AoSMC	blood vessel:	n/a
43	chr15:31948632-31948682	AG10803	skin:	n/a
44	chr15:31948632-31948682	HCM	heart:	n/a
45	chr15:31948075-31948125	NT2-D1	testis:	n/a
46	chr15:31948075-31948125	PFSK-1	brain:	n/a
47	chr15:31948632-31948682	HL-60	blood:	n/a
48	chr15:31948632-31948682	ProgFib	skin:	n/a
49	chr15:31948075-31948125	HEEpiC	esophagus:	n/a
50	chr15:31948075-31948125	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
OTUD7A	TF binding region
OTUD7A	CpG island

Extended variants
information (count: 3329 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3329 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376375982	chr15:31908446-31908447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28436237	chr15:31908464-31908465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551307775	chr15:31908506-31908507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574787250	chr15:31915802-31915803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373357304	chr15:31915811-31915812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563497271	chr15:31915820-31915821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563989819	chr15:31915821-31915822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552359090	chr15:31915825-31915826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35467581	chr15:31915841-31915842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531135504	chr15:31915842-31915843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552306491	chr15:31915855-31915856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151259557	chr15:31915857-31915858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552774676	chr15:31915906-31915907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548595448	chr15:31915910-31915911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190723136	chr15:31915917-31915918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537297222	chr15:31915955-31915956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8040203	chr15:31915959-31915960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373885124	chr15:31915960-31915961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539642335	chr15:31916014-31916015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146164243	chr15:31916024-31916025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572884274	chr15:31916057-31916058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550180490	chr15:31916062-31916063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554895273	chr15:31916073-31916074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8024958	chr15:31916074-31916075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180977994	chr15:31916079-31916080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536234902	chr15:31916084-31916085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577493179	chr15:31916095-31916096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187089252	chr15:31916098-31916099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191054417	chr15:31916099-31916100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528585417	chr15:31916109-31916110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542348319	chr15:31916119-31916120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562023217	chr15:31916185-31916186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371331332	chr15:31916208-31916209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536226263	chr15:31916255-31916256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550866099	chr15:31916316-31916317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570703723	chr15:31916344-31916345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368600659	chr15:31916362-31916363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374161270	chr15:31916387-31916388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533115128	chr15:31916442-31916443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546770811	chr15:31916556-31916557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114550558	chr15:31916604-31916605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535136544	chr15:31916740-31916741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200322232	chr15:31916750-31916751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35331530	chr15:31916760-31916761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182893358	chr15:31916765-31916766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187480133	chr15:31916778-31916779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557500796	chr15:31916808-31916809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577459979	chr15:31916809-31916810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536971970	chr15:31916852-31916853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190814948	chr15:31916853-31916854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD
Autism	21865298	CNVD
Cancer	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31908400-31908600	Weak transcription	Gastric	stomach
2	chr15:31915800-31925400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:31917200-31917400	Active TSS	Gastric	stomach
4	chr15:31923400-31949400	Weak transcription	Brain Anterior Caudate	brain
5	chr15:31923600-31929400	Weak transcription	Brain Substantia Nigra	brain
6	chr15:31924200-31953000	Weak transcription	Brain Angular Gyrus	brain
7	chr15:31925400-31926000	Strong transcription	Brain Cingulate Gyrus	brain
8	chr15:31925800-31926200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:31925800-31926200	ZNF genes & repeats	Aorta	Aorta
10	chr15:31925800-31927200	ZNF genes & repeats	Pancreas	Pancrea
11	chr15:31926000-31926400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:31926200-31929600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:31926400-31926800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:31926400-31927000	Strong transcription	Brain Cingulate Gyrus	brain
15	chr15:31926600-31926800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:31926600-31927000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:31926800-31927000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr15:31926800-31927000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr15:31926800-31927400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:31927000-31928000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:31927000-31962600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:31927200-31928400	Weak transcription	Pancreas	Pancrea
23	chr15:31927400-31928200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:31927600-31927800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:31928000-31928200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr15:31928000-31928200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr15:31928000-31928200	Enhancers	Ovary	ovary
28	chr15:31928000-31928400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:31928200-31930200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:31928400-31929000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr15:31928600-31929000	Enhancers	Hela-S3	cervix
32	chr15:31928800-31929200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:31928800-31929200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr15:31928800-31929400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:31928800-31929400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr15:31929000-31929200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr15:31929000-31929400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr15:31931200-31931400	Active TSS	A549	lung
39	chr15:31931400-31931600	Flanking Active TSS	A549	lung
40	chr15:31931600-31932200	Enhancers	A549	lung
41	chr15:31938800-31948200	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:31940000-31940200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:31948400-31948600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr15:31949200-31949400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:31949400-31949600	Enhancers	Brain Anterior Caudate	brain
46	chr15:31949400-31949600	Enhancers	Brain Hippocampus Middle	brain
47	chr15:31949400-31950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr15:31950000-31950200	Enhancers	Pancreas	Pancrea
49	chr15:31950400-31951800	Weak transcription	Pancreas	Pancrea
50	chr15:31952400-31952800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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