Variant report

Variant	esv3311762
Chromosome Location	chr15:45326620-45328570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr15:45327537-45327739	K562	blood:	n/a	n/a
2	SP1	chr15:45326248-45326652	HepG2	liver:	n/a	chr15:45326527-45326541

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45328217-45328267	MCF-7	breast:	n/a
2	chr15:45328217-45328267	HL-60	blood:	n/a
3	chr15:45328367-45328417	ECC-1	luminal epithelium:	n/a
4	chr15:45328217-45328267	HCPEpiC	choroid plexus:	n/a
5	chr15:45327351-45327401	HL-60	blood:	n/a
6	chr15:45328217-45328267	HCF	heart:	n/a
7	chr15:45328217-45328267	Hela-S3	cervix:	n/a
8	chr15:45327351-45327401	HRPEpiC	eye:	n/a
9	chr15:45328367-45328417	BE2_C	brain:	n/a
10	chr15:45328367-45328417	NHBE	bronchial:	n/a
11	chr15:45328367-45328417	ovcar-3	ovarian:	n/a
12	chr15:45328367-45328417	GM12878	blood:	n/a
13	chr15:45328367-45328417	SK-N-SH	brain:	n/a
14	chr15:45328217-45328267	BE2_C	brain:	n/a
15	chr15:45328217-45328267	NH-A	brain:	n/a
16	chr15:45328367-45328417	T-47D	breast:	n/a
17	chr15:45327351-45327401	HCF	heart:	n/a
18	chr15:45327351-45327401	HepG2	liver:	n/a
19	chr15:45328367-45328417	HPAEpiC	pulmonary alveolar:	n/a
20	chr15:45328217-45328267	HUVEC	blood vessel:	n/a
21	chr15:45327351-45327401	RPTEC	kidney:	n/a
22	chr15:45328217-45328267	NB4	blood:	n/a
23	chr15:45328367-45328417	AG04450	lung:	fetal
24	chr15:45328367-45328417	AoSMC	blood vessel:	n/a
25	chr15:45327351-45327401	AoSMC	blood vessel:	n/a
26	chr15:45328217-45328267	PrEC	prostate:	n/a
27	chr15:45328367-45328417	U87	brain:	n/a
28	chr15:45328367-45328417	AG04449	skin:	fetal
29	chr15:45328217-45328267	NHBE	bronchial:	n/a
30	chr15:45328367-45328417	Caco-2	colon:	n/a
31	chr15:45327351-45327401	AG10803	skin:	n/a
32	chr15:45328367-45328417	MCF-7	breast:	n/a
33	chr15:45327351-45327401	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:45328367-45328417	HRE	kidney:	n/a
35	chr15:45328367-45328417	PANC-1	pancreas:	n/a
36	chr15:45327351-45327401	SK-N-SH_RA	brain:	n/a
37	chr15:45327351-45327401	SAEC	small airway:	n/a
38	chr15:45328217-45328267	Jurkat	blood:	n/a
39	chr15:45328367-45328417	K562	blood:	n/a
40	chr15:45328367-45328417	HL-60	blood:	n/a
41	chr15:45327351-45327401	NH-A	brain:	n/a
42	chr15:45328217-45328267	HIPEpiC	eye:	n/a
43	chr15:45328217-45328267	H1-hESC	embryonic stem cell:	embryo
44	chr15:45328367-45328417	HRPEpiC	eye:	n/a
45	chr15:45328217-45328267	CMK	blood:	n/a
46	chr15:45328367-45328417	SKMC	muscle:	n/a
47	chr15:45328217-45328267	SK-N-SH	brain:	n/a
48	chr15:45327351-45327401	GM12892	blood:	n/a
49	chr15:45328367-45328417	LNCaP	prostate:	n/a
50	chr15:45328217-45328267	GM19239	blood:	n/a

No data

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

Extended variants
information (count: 80 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368077006	chr15:45326658-45326659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113072058	chr15:45326719-45326720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7171901	chr15:45326720-45326721	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549938677	chr15:45326750-45326751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386783596	chr15:45326763-45326764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111332232	chr15:45326764-45326765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs137963882	chr15:45326765-45326766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143442311	chr15:45326766-45326767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147131441	chr15:45326805-45326806	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114869834	chr15:45326828-45326829	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs577348825	chr15:45326830-45326831	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs3110586	chr15:45326831-45326832	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538928164	chr15:45326880-45326881	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553609769	chr15:45326884-45326885	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200773146	chr15:45326897-45326898	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556981917	chr15:45326940-45326941	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs576568211	chr15:45326988-45326989	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542359670	chr15:45327031-45327032	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562290777	chr15:45327041-45327042	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368969766	chr15:45327053-45327054	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541469568	chr15:45327098-45327099	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35084640	chr15:45327104-45327105	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112089470	chr15:45327123-45327124	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533332179	chr15:45327154-45327155	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543944661	chr15:45327218-45327219	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs563755264	chr15:45327265-45327266	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533905955	chr15:45327287-45327288	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555471306	chr15:45327300-45327301	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574064757	chr15:45327306-45327307	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112810620	chr15:45327311-45327312	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565872200	chr15:45327313-45327314	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs35769013	chr15:45327334-45327335	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs551236032	chr15:45327351-45327352	Weak transcription Enhancers Strong transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs570924750	chr15:45327413-45327414	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578079077	chr15:45327420-45327421	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556780100	chr15:45327492-45327493	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567348629	chr15:45327511-45327512	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535710660	chr15:45327525-45327526	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555913137	chr15:45327544-45327545	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572803393	chr15:45327564-45327565	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs149318699	chr15:45327614-45327615	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111366673	chr15:45327619-45327620	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188154456	chr15:45327625-45327626	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144574271	chr15:45327626-45327627	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs79380437	chr15:45327637-45327638	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs543796492	chr15:45327643-45327644	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs567157023	chr15:45327661-45327662	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs35134929	chr15:45327662-45327663	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112917687	chr15:45327663-45327664	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs559522676	chr15:45327696-45327697	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:45316400-45327600	Weak transcription	Primary B cells from cord blood	blood
3	chr15:45316400-45329400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr15:45316400-45333000	Weak transcription	Lung	lung
5	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
7	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:45316600-45327000	Weak transcription	Esophagus	oesophagus
9	chr15:45316600-45328800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr15:45316600-45328800	Weak transcription	Pancreas	Pancrea
11	chr15:45316600-45329000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:45316600-45329000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:45316600-45329000	Weak transcription	Osteobl	bone
14	chr15:45316600-45329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:45316600-45329200	Weak transcription	NHLF	lung
16	chr15:45316600-45329400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:45316600-45329600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:45316600-45339200	Weak transcription	Fetal Lung	lung
19	chr15:45316600-45340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:45316600-45340600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:45316600-45340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:45316800-45337600	Weak transcription	GM12878-XiMat	blood
27	chr15:45316800-45340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:45316800-45346400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:45317200-45326800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:45319200-45363200	Weak transcription	Fetal Thymus	thymus
31	chr15:45319400-45329000	Weak transcription	A549	lung
32	chr15:45319600-45329000	Weak transcription	Brain Anterior Caudate	brain
33	chr15:45319800-45329000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:45319800-45339800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:45319800-45340600	Weak transcription	Right Ventricle	heart
36	chr15:45319800-45363600	Weak transcription	Brain Angular Gyrus	brain
37	chr15:45320200-45328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:45320400-45329000	Weak transcription	Fetal Heart	heart
39	chr15:45322000-45339600	Weak transcription	Ovary	ovary
40	chr15:45322000-45340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:45322000-45340600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:45322000-45340600	Weak transcription	Primary T cells from cord blood	blood
43	chr15:45322000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:45322200-45328600	Weak transcription	HepG2	liver
45	chr15:45322200-45329000	Weak transcription	Brain Substantia Nigra	brain
46	chr15:45322200-45339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:45322200-45339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:45322400-45335200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:45322600-45326800	Weak transcription	Brain Germinal Matrix	brain
50	chr15:45322600-45340400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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