Variant report

Variant	nsv569413
Chromosome Location	chr15:52266878-52273132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:52271930-52271958	HepG2	liver:	n/a	chr15:52271941-52271952
2	CEBPB	chr15:52271916-52271942	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr15:52271910-52271954	K562	blood:	n/a	chr15:52271941-52271952
4	POLR2A	chr15:52269964-52269979	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:52269947-52269959	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:52269397-52269524	K562	blood:	n/a	n/a
7	STAT1	chr15:52267791-52268280	Hela-S3	cervix:	n/a	chr15:52268038-52268049

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:52267193-52267243	GM12892	blood:	n/a
2	chr15:52267193-52267243	Jurkat	blood:	n/a
3	chr15:52267193-52267243	K562	blood:	n/a
4	chr15:52267193-52267243	T-47D	breast:	n/a
5	chr15:52267193-52267243	GM19239	blood:	n/a
6	chr15:52267193-52267243	HCT-116	colon:	n/a
7	chr15:52267193-52267243	AG09319	gingival:	n/a
8	chr15:52267193-52267243	HepG2	liver:	n/a
9	chr15:52267193-52267243	AG04449	skin:	fetal
10	chr15:52267193-52267243	ECC-1	luminal epithelium:	n/a
11	chr15:52267193-52267243	Caco-2	colon:	n/a
12	chr15:52267193-52267243	H1-hESC	embryonic stem cell:	embryo
13	chr15:52267193-52267243	HEEpiC	esophagus:	n/a
14	chr15:52267193-52267243	HL-60	blood:	n/a
15	chr15:52267193-52267243	HRCEpiC	kidney:	n/a
16	chr15:52267193-52267243	AG09309	skin:	n/a
17	chr15:52267193-52267243	HRPEpiC	eye:	n/a
18	chr15:52267193-52267243	BE2_C	brain:	n/a
19	chr15:52267193-52267243	MCF-7	breast:	n/a
20	chr15:52267193-52267243	NT2-D1	testis:	n/a
21	chr15:52267193-52267243	Hepatocyte	liver:	n/a
22	chr15:52267193-52267243	HMEC	breast:	n/a
23	chr15:52267193-52267243	NHDF-neo	bronchial:	n/a
24	chr15:52267193-52267243	HAEpiC	amniotic membrane:	n/a
25	chr15:52267193-52267243	PANC-1	pancreas:	n/a
26	chr15:52267193-52267243	SAEC	small airway:	n/a
27	chr15:52267193-52267243	SKMC	muscle:	n/a
28	chr15:52267193-52267243	AoSMC	blood vessel:	n/a
29	chr15:52267193-52267243	RPTEC	kidney:	n/a
30	chr15:52267193-52267243	SK-N-SH_RA	brain:	n/a
31	chr15:52267193-52267243	CMK	blood:	n/a
32	chr15:52267193-52267243	GM12878	blood:	n/a
33	chr15:52267193-52267243	HCPEpiC	choroid plexus:	n/a
34	chr15:52267193-52267243	PrEC	prostate:	n/a
35	chr15:52267193-52267243	AG04450	lung:	fetal
36	chr15:52267193-52267243	IMR90	lung:	fetal
37	chr15:52267193-52267243	SK-N-MC	brain:	n/a
38	chr15:52267193-52267243	Hela-S3	cervix:	n/a
39	chr15:52267193-52267243	HNPCEpiC	eye:	n/a
40	chr15:52267193-52267243	U87	brain:	n/a
41	chr15:52267193-52267243	NHBE	bronchial:	n/a
42	chr15:52267193-52267243	A549	lung:	n/a
43	chr15:52267193-52267243	PFSK-1	brain:	n/a
44	chr15:52267193-52267243	GM06990	blood:	n/a
45	chr15:52267193-52267243	HIPEpiC	eye:	n/a
46	chr15:52267193-52267243	NB4	blood:	n/a
47	chr15:52267193-52267243	HUVEC	blood vessel:	n/a
48	chr15:52267193-52267243	LNCaP	prostate:	n/a
49	chr15:52267193-52267243	ovcar-3	ovarian:	n/a
50	chr15:52267193-52267243	MCF10A-Er-Src	breast:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52273041..52275862-chr15:52300749..52303075,2	MCF-7	breast:
2	chr15:52272788..52276993-chr15:52369760..52371998,4	MCF-7	breast:
3	chr15:52269337..52272220-chr15:52273087..52274635,2	MCF-7	breast:
4	chr15:52271043..52273593-chr15:52500641..52502378,2	MCF-7	breast:
5	chr15:52271637..52274025-chr15:52275587..52277212,2	MCF-7	breast:
6	chr15:52269337..52272220-chr15:52273087..52274635,2	MCF-7	breast:
7	chr15:52269022..52271113-chr15:52277354..52279460,2	MCF-7	breast:
8	chr15:52268028..52270216-chr15:52470821..52473204,2	MCF-7	breast:
9	chr15:52272323..52273861-chr15:52410160..52412706,2	MCF-7	breast:
10	chr15:52272236..52273812-chr15:52299761..52301744,2	K562	blood:
11	chr15:52266394..52269371-chr17:57935595..57937194,2	MCF-7	breast:
12	chr15:52266921..52268436-chr15:52310388..52312798,2	MCF-7	breast:
13	chr15:52272930..52275289-chr15:52472014..52473869,2	MCF-7	breast:
14	chr15:52271865..52274806-chr15:52313995..52316353,2	MCF-7	breast:
15	chr15:52267594..52270331-chr15:52272576..52274636,3	MCF-7	breast:
16	chr15:52272443..52274627-chr15:52305698..52308304,2	K562	blood:
17	chr15:52272756..52275955-chr15:52369833..52372310,3	MCF-7	breast:
18	chr15:52259207..52267788-chr15:52308373..52314434,24	MCF-7	breast:
19	chr15:52264304..52267297-chr15:52410135..52412517,2	MCF-7	breast:
20	chr15:52267594..52270331-chr15:52272576..52274636,3	MCF-7	breast:
21	chr15:52273097..52274841-chr15:52286884..52288398,2	K562	blood:
22	chr15:52272584..52276027-chr15:52308541..52312916,5	K562	blood:
23	chr15:52267047..52268763-chr15:52371441..52374035,2	K562	blood:
24	chr15:52272035..52276768-chr15:52309954..52313442,7	MCF-7	breast:

No data

Variant related genes	Relation type
LEO1	TF binding region
LEO1	CpG island
ENSG00000259577	chromatin interactions
ENSG00000069966	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000259438	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2470617	chr15:52266878-52266879	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34842090	chr15:52266900-52266901	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554609196	chr15:52266922-52266923	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560021109	chr15:52266925-52266926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371324125	chr15:52266928-52266929	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187207024	chr15:52266930-52266931	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563348555	chr15:52267007-52267008	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs71472921	chr15:52267028-52267029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530766560	chr15:52267106-52267107	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12915040	chr15:52267131-52267132	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12913898	chr15:52267132-52267133	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs552300321	chr15:52267145-52267146	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375405484	chr15:52267147-52267148	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536768279	chr15:52267193-52267194	Weak transcription Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs564413325	chr15:52267194-52267195	Weak transcription Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs143704411	chr15:52267204-52267205	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs148125860	chr15:52267240-52267241	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs368068243	chr15:52267383-52267384	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532044804	chr15:52267423-52267424	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546456864	chr15:52267435-52267436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs141827612	chr15:52267462-52267463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535763762	chr15:52267468-52267469	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550853965	chr15:52267471-52267472	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568876242	chr15:52267541-52267542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539441051	chr15:52267566-52267567	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113561168	chr15:52267633-52267634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557876627	chr15:52267663-52267664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572837785	chr15:52267732-52267733	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533855327	chr15:52267748-52267749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553305439	chr15:52267784-52267785	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574648309	chr15:52267818-52267819	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs542120654	chr15:52267891-52267892	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs563636450	chr15:52267894-52267895	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs575275350	chr15:52267928-52267929	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs190824169	chr15:52267939-52267940	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs112444179	chr15:52267998-52267999	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs2470592	chr15:52268013-52268014	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547037554	chr15:52268030-52268031	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs182097986	chr15:52268046-52268047	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs187093084	chr15:52268133-52268134	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs2593194	chr15:52268147-52268148	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571242482	chr15:52268179-52268180	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs569166435	chr15:52268188-52268189	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs539475683	chr15:52268190-52268191	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs376548911	chr15:52268201-52268202	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs551110257	chr15:52268202-52268203	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs375627567	chr15:52268230-52268231	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs539710756	chr15:52268234-52268235	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs373156904	chr15:52268239-52268240	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs377276674	chr15:52268262-52268263	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52264600-52273000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr15:52264600-52273000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:52264600-52273000	Weak transcription	Liver	Liver
4	chr15:52264600-52273000	Weak transcription	Right Ventricle	heart
5	chr15:52264600-52273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:52264600-52273600	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:52264600-52273600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:52264600-52273600	Weak transcription	Stomach Mucosa	stomach
9	chr15:52264600-52273800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:52264600-52273800	Weak transcription	Brain Anterior Caudate	brain
11	chr15:52264600-52273800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:52264600-52273800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:52264600-52273800	Weak transcription	Brain Substantia Nigra	brain
14	chr15:52264600-52273800	Weak transcription	Thymus	Thymus
15	chr15:52264600-52274000	Weak transcription	Colonic Mucosa	Colon
16	chr15:52264600-52274200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:52264600-52274400	Weak transcription	Pancreas	Pancrea
18	chr15:52264800-52269600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:52264800-52273000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:52264800-52273000	Weak transcription	Hela-S3	cervix
21	chr15:52264800-52273200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:52264800-52273200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:52264800-52273600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:52264800-52273600	Weak transcription	NHEK	skin
25	chr15:52264800-52273800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:52264800-52273800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:52264800-52273800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:52264800-52273800	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:52264800-52274000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:52264800-52274000	Weak transcription	Fetal Intestine Large	intestine
31	chr15:52265000-52267200	Weak transcription	Fetal Stomach	stomach
32	chr15:52265000-52273000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:52265000-52273800	Weak transcription	HSMM	muscle
34	chr15:52265200-52267200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:52265200-52269800	Weak transcription	Fetal Brain Female	brain
36	chr15:52265200-52273000	Weak transcription	Fetal Thymus	thymus
37	chr15:52265200-52273800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:52265200-52273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:52265400-52273000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:52265600-52273800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:52265800-52267000	Strong transcription	Fetal Intestine Small	intestine
42	chr15:52265800-52272600	Weak transcription	HepG2	liver
43	chr15:52266000-52267000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr15:52266400-52273800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:52266600-52269800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:52266600-52273800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:52267000-52269800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr15:52267000-52273200	Weak transcription	Fetal Intestine Small	intestine
49	chr15:52267200-52273800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:52269600-52269800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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