Variant report

Variant	esv1809051
Chromosome Location	chr15:45319651-45323951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45319667-45319860	K562	blood:	n/a	n/a
2	ATF1	chr15:45321173-45321223	K562	blood:	n/a	n/a
3	CBX3	chr15:45321710-45322207	K562	blood:	n/a	n/a
4	CBX3	chr15:45321842-45322070	K562	blood:	n/a	n/a
5	CBX3	chr15:45323934-45324441	K562	blood:	n/a	n/a
6	CBX3	chr15:45323759-45324400	K562	blood:	n/a	n/a
7	CEBPB	chr15:45319580-45319770	K562	blood:	n/a	n/a
8	CEBPB	chr15:45323012-45323267	HepG2	liver:	n/a	chr15:45323141-45323152
9	CEBPB	chr15:45323785-45324250	K562	blood:	n/a	n/a
10	CEBPB	chr15:45322965-45323330	K562	blood:	n/a	chr15:45323141-45323152
11	CEBPB	chr15:45322992-45323243	K562	blood:	n/a	chr15:45323141-45323152
12	CEBPD	chr15:45323757-45324332	K562	blood:	n/a	n/a
13	EP300	chr15:45318795-45320180	SK-N-SH	brain:	n/a	chr15:45319152-45319166
14	EP300	chr15:45319562-45319752	K562	blood:	n/a	n/a
15	EP300	chr15:45320383-45321549	SK-N-SH	brain:	n/a	chr15:45321423-45321437 chr15:45321424-45321433 chr15:45321284-45321298
16	FAM48A	chr15:45323542-45323666	GM12878	blood:	n/a	n/a
17	GATA1	chr15:45323639-45324008	PBDE	blood:	n/a	chr15:45323963-45323979 chr15:45323963-45323979
18	GATA2	chr15:45320990-45321321	SH-SY5Y	brain:	n/a	n/a
19	GATA2	chr15:45323697-45324456	K562	blood:	n/a	chr15:45324075-45324084 chr15:45324027-45324043 chr15:45323963-45323979 chr15:45323963-45323979
20	GATA3	chr15:45320956-45321396	SH-SY5Y	brain:	n/a	n/a
21	JUND	chr15:45319377-45319804	K562	blood:	n/a	n/a
22	KAP1	chr15:45321685-45322280	K562	blood:	n/a	n/a
23	MAFF	chr15:45319522-45319729	K562	blood:	n/a	n/a
24	MYC	chr15:45319526-45319719	K562	blood:	n/a	n/a
25	NR2F2	chr15:45323755-45324354	K562	blood:	n/a	n/a
26	NR2F2	chr15:45323836-45324212	K562	blood:	n/a	n/a
27	POLR2A	chr15:45321684-45321711	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:45323831-45324132	HepG2	liver:	n/a	n/a
29	POLR2A	chr15:45323694-45324119	K562	blood:	n/a	n/a
30	POLR2A	chr15:45323930-45323966	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:45321702-45322091	GM12891	blood:	n/a	n/a
32	POLR2A	chr15:45323080-45323407	HepG2	liver:	n/a	n/a
33	POLR2A	chr15:45323837-45324170	GM12891	blood:	n/a	n/a
34	POLR2A	chr15:45320182-45320473	HepG2	liver:	n/a	n/a
35	POLR2A	chr15:45321952-45322182	HepG2	liver:	n/a	n/a
36	POLR2A	chr15:45321728-45322278	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr15:45321511-45321541	HepG2	liver:	n/a	n/a
38	POLR2A	chr15:45320266-45320440	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:45321620-45321725	HepG2	liver:	n/a	n/a
40	RCOR1	chr15:45323500-45323700	K562	blood:	n/a	n/a
41	RCOR1	chr15:45319602-45319763	K562	blood:	n/a	n/a
42	RCOR1	chr15:45319522-45319779	K562	blood:	n/a	n/a
43	REST	chr15:45320263-45320445	H1-hESC	embryonic stem cell:	n/a	n/a
44	SETDB1	chr15:45321659-45322187	U2OS	brain:	n/a	n/a
45	SIX5	chr15:45323868-45324100	K562	blood:	n/a	n/a
46	SP1	chr15:45320237-45320472	HepG2	liver:	n/a	n/a
47	STAT5A	chr15:45323813-45324274	K562	blood:	n/a	n/a
48	STAT5A	chr15:45323733-45324270	K562	blood:	n/a	n/a
49	TAL1	chr15:45319671-45319710	K562	blood:	n/a	n/a
50	TAL1	chr15:45321068-45321268	K562	blood:	n/a	chr15:45321151-45321160

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45313440..45317462-chr15:45317525..45323259,9	K562	blood:

Variant related genes	Relation type
SORD	TF binding region
ENSG00000140263	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:275 , 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	rs2576078	chr15:45319673-45319674	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140297383	chr15:45319737-45319738	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535007263	chr15:45319860-45319861	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72722057	chr15:45319868-45319869	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556529819	chr15:45319917-45319918	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2576077	chr15:45319939-45319940	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2576076	chr15:45319940-45319941	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2600895	chr15:45319959-45319960	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2600894	chr15:45319965-45319966	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11632215	chr15:45319982-45319983	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs541568152	chr15:45319987-45319988	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs172021	chr15:45319988-45319989	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs578248397	chr15:45320013-45320014	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs175224	chr15:45320019-45320020	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7182670	chr15:45320033-45320034	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs575232315	chr15:45320049-45320050	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377242114	chr15:45320050-45320051	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11632296	chr15:45320066-45320067	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs270822	chr15:45320080-45320081	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs72722060	chr15:45320090-45320091	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs270821	chr15:45320115-45320116	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs16977139	chr15:45320155-45320156	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141631581	chr15:45320167-45320168	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72722061	chr15:45320176-45320177	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542223838	chr15:45320218-45320219	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs72722062	chr15:45320249-45320250	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182887147	chr15:45320252-45320253	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113605828	chr15:45320294-45320295	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571248652	chr15:45320329-45320330	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs68126146	chr15:45320345-45320346	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187560821	chr15:45320354-45320355	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550186519	chr15:45320368-45320369	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112906907	chr15:45320375-45320376	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386783578	chr15:45320397-45320398	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138302891	chr15:45320433-45320434	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115637967	chr15:45320448-45320449	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116215946	chr15:45320449-45320450	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552800717	chr15:45320473-45320474	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572892411	chr15:45320474-45320475	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534949107	chr15:45320481-45320482	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558370319	chr15:45320482-45320483	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs578257772	chr15:45320487-45320488	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113000093	chr15:45320493-45320494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144032403	chr15:45320497-45320498	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112807318	chr15:45320498-45320499	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191680327	chr15:45320530-45320531	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386783581	chr15:45320534-45320535	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116699837	chr15:45320535-45320536	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559637255	chr15:45320543-45320544	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs386783582	chr15:45320547-45320548	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive 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:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316000-45321600	Weak transcription	Aorta	Aorta
2	chr15:45316200-45326200	Weak transcription	Psoas Muscle	Psoas
3	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:45316400-45320600	Weak transcription	Fetal Kidney	kidney
5	chr15:45316400-45321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:45316400-45321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:45316400-45321400	Weak transcription	Primary T cells from cord blood	blood
8	chr15:45316400-45321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:45316400-45321600	Weak transcription	Right Atrium	heart
10	chr15:45316400-45321800	Weak transcription	Ovary	ovary
11	chr15:45316400-45323400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:45316400-45327600	Weak transcription	Primary B cells from cord blood	blood
13	chr15:45316400-45329400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:45316400-45333000	Weak transcription	Lung	lung
15	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
17	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:45316600-45319800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:45316600-45321200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:45316600-45321400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:45316600-45321400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:45316600-45321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:45316600-45321400	Weak transcription	Fetal Intestine Small	intestine
24	chr15:45316600-45321400	Weak transcription	Fetal Stomach	stomach
25	chr15:45316600-45321800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:45316600-45322200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:45316600-45322800	Weak transcription	Colonic Mucosa	Colon
28	chr15:45316600-45323000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:45316600-45323000	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:45316600-45324800	Weak transcription	Spleen	Spleen
31	chr15:45316600-45325400	Weak transcription	NHDF-Ad	bronchial
32	chr15:45316600-45326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:45316600-45327000	Weak transcription	Esophagus	oesophagus
34	chr15:45316600-45328800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr15:45316600-45328800	Weak transcription	Pancreas	Pancrea
36	chr15:45316600-45329000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:45316600-45329000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:45316600-45329000	Weak transcription	Osteobl	bone
39	chr15:45316600-45329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:45316600-45329200	Weak transcription	NHLF	lung
41	chr15:45316600-45329400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:45316600-45329600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:45316600-45339200	Weak transcription	Fetal Lung	lung
44	chr15:45316600-45340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:45316600-45340600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:45316600-45340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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