Variant report

Variant	esv9731
Chromosome Location	chr15:55655378-55657167
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	IRF1	chr15:55656562-55656705	K562	blood:	n/a	chr15:55656569-55656582 chr15:55656570-55656582
2	MAFF	chr15:55657153-55657375	HepG2	liver:	n/a	n/a
3	MAFK	chr15:55657114-55657418	HepG2	liver:	n/a	chr15:55657272-55657287
4	MAFK	chr15:55657146-55657405	IMR90	lung:	n/a	chr15:55657272-55657287
5	MAFK	chr15:55657150-55657428	HepG2	liver:	n/a	chr15:55657272-55657287
6	POLR2A	chr15:55655520-55656621	K562	blood:	n/a	n/a
7	STAT3	chr15:55656558-55656740	MCF10A-Er-Src	breast:	n/a	n/a
8	ZNF384	chr15:55655951-55655967	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:55656734..55659710-chr15:55662941..55665485,2	MCF-7	breast:
2	chr15:55656332..55658633-chr15:55699668..55701557,2	MCF-7	breast:
3	chr15:55645555..55647417-chr15:55656372..55659364,2	K562	blood:

Variant related genes	Relation type
CCPG1	TF binding region
ENSG00000069943	chromatin interactions
ENSG00000260916	chromatin interactions
ENSG00000207964	chromatin interactions
ENSG00000261652	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76237425	chr15:55655379-55655380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548886238	chr15:55655404-55655405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536633033	chr15:55655451-55655452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186020243	chr15:55655464-55655465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190542329	chr15:55655520-55655521	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111265221	chr15:55655532-55655533	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186654044	chr15:55655534-55655535	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs57094422	chr15:55655553-55655554	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs368574706	chr15:55655562-55655563	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201531217	chr15:55655566-55655567	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs7178847	chr15:55655583-55655584	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79589996	chr15:55655616-55655617	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561014697	chr15:55655618-55655619	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs28476538	chr15:55655624-55655625	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559069616	chr15:55655698-55655699	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536987086	chr15:55655806-55655807	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs4534774	chr15:55655816-55655817	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372303443	chr15:55655865-55655866	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576554560	chr15:55655959-55655960	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565044184	chr15:55655998-55655999	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545278351	chr15:55656055-55656056	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs373764497	chr15:55656066-55656067	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs141271450	chr15:55656096-55656097	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141367464	chr15:55656156-55656157	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs386784231	chr15:55656162-55656163	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113844290	chr15:55656210-55656211	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541253222	chr15:55656217-55656218	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs28413009	chr15:55656250-55656251	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs61469082	chr15:55656251-55656252	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs587049	chr15:55656286-55656287	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542877101	chr15:55656302-55656303	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190655847	chr15:55656327-55656328	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs78304046	chr15:55656356-55656357	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs557504561	chr15:55656395-55656396	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs551325250	chr15:55656445-55656446	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs571360891	chr15:55656446-55656447	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs150395929	chr15:55656475-55656476	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs78932163	chr15:55656480-55656481	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs188695490	chr15:55656513-55656514	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs138149241	chr15:55656525-55656526	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs552042791	chr15:55656575-55656576	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs570265245	chr15:55656580-55656581	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs539214915	chr15:55656589-55656590	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs75740388	chr15:55656611-55656612	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs572189808	chr15:55656620-55656621	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs191224192	chr15:55656621-55656622	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs183394604	chr15:55656627-55656628	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs574728767	chr15:55656658-55656659	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs75381973	chr15:55656683-55656684	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs187351967	chr15:55656739-55656740	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55611800-55699400	Weak transcription	Colonic Mucosa	Colon
2	chr15:55612000-55665000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:55612000-55671000	Weak transcription	Right Ventricle	heart
4	chr15:55612000-55671000	Weak transcription	Small Intestine	intestine
5	chr15:55612600-55663600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:55612600-55675600	Weak transcription	Aorta	Aorta
7	chr15:55612800-55677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:55620400-55658000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:55623800-55660200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:55630000-55695000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:55630400-55675600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:55630600-55655800	Weak transcription	Brain Angular Gyrus	brain
13	chr15:55630600-55660200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:55630600-55663200	Weak transcription	Fetal Lung	lung
15	chr15:55630600-55667800	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:55630600-55668400	Weak transcription	Brain Substantia Nigra	brain
17	chr15:55630800-55683600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:55631000-55667800	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:55631200-55663200	Weak transcription	Pancreas	Pancrea
20	chr15:55631200-55674000	Weak transcription	Placenta	Placenta
21	chr15:55633600-55667200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:55635800-55675200	Weak transcription	Fetal Brain Male	brain
23	chr15:55636600-55657000	Weak transcription	Fetal Brain Female	brain
24	chr15:55636600-55678200	Weak transcription	Fetal Thymus	thymus
25	chr15:55636800-55666200	Weak transcription	Brain Germinal Matrix	brain
26	chr15:55637000-55660400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:55637000-55663000	Weak transcription	K562	blood
28	chr15:55637000-55663400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:55637000-55671400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:55637000-55699600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:55637400-55680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:55638000-55658200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:55641000-55667800	Weak transcription	Spleen	Spleen
34	chr15:55641000-55668000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:55641000-55671600	Weak transcription	Thymus	Thymus
36	chr15:55641200-55658200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:55641600-55660200	Weak transcription	Gastric	stomach
38	chr15:55643000-55664000	Weak transcription	GM12878-XiMat	blood
39	chr15:55643200-55656400	Weak transcription	Hela-S3	cervix
40	chr15:55645000-55665000	Weak transcription	Fetal Intestine Small	intestine
41	chr15:55645000-55667800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:55645000-55680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:55645200-55657400	Strong transcription	Liver	Liver
44	chr15:55645600-55681400	Weak transcription	Stomach Mucosa	stomach
45	chr15:55646400-55656200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:55646400-55657400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:55646400-55658400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr15:55646600-55658000	Strong transcription	Adipose Nuclei	Adipose
49	chr15:55646800-55660600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:55647800-55695400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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