Variant report

Variant	esv2609237
Chromosome Location	chr15:51044042-51045622
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	BRCA1	chr15:51045608-51045972	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr15:51045541-51046051	Hela-S3	cervix:	n/a	chr15:51045815-51045826 chr15:51045875-51045886 chr15:51045875-51045888
3	CEBPB	chr15:51045622-51046046	K562	blood:	n/a	chr15:51045815-51045826 chr15:51045875-51045886 chr15:51045875-51045888
4	CEBPB	chr15:51045591-51046047	IMR90	lung:	n/a	chr15:51045815-51045826 chr15:51045875-51045886 chr15:51045875-51045888
5	CEBPB	chr15:51045545-51046082	K562	blood:	n/a	chr15:51045815-51045826 chr15:51045875-51045886 chr15:51045875-51045888
6	CTCF	chr15:51044685-51044722	Spleen_OC	spleen:	n/a	n/a
7	EP300	chr15:51045562-51045971	Hela-S3	cervix:	n/a	chr15:51045873-51045887
8	EP300	chr15:51044909-51045174	K562	blood:	n/a	n/a
9	EP300	chr15:51045512-51046083	K562	blood:	n/a	chr15:51045873-51045887
10	GATA1	chr15:51045431-51046506	PBDE	blood:	n/a	chr15:51045951-51045961 chr15:51045946-51045967 chr15:51045942-51045959 chr15:51045951-51045960 chr15:51045949-51045962 chr15:51045953-51045960
11	GATA1	chr15:51044813-51046191	K562	blood:	n/a	chr15:51045951-51045961 chr15:51045946-51045967 chr15:51045942-51045959 chr15:51045951-51045960 chr15:51045949-51045962 chr15:51045953-51045960
12	MYC	chr15:51045599-51045986	K562	blood:	n/a	n/a
13	POLR2A	chr15:51045163-51045190	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr15:51044012-51044197	GM12878	blood:	n/a	n/a
15	STAT3	chr15:51045614-51045967	Hela-S3	cervix:	n/a	n/a
16	TAL1	chr15:51044929-51045204	K562	blood:	n/a	n/a
17	TEAD4	chr15:51045583-51046158	K562	blood:	n/a	n/a
18	TEAD4	chr15:51045586-51046102	K562	blood:	n/a	n/a
19	TEAD4	chr15:51044830-51045180	K562	blood:	n/a	n/a
20	ZMIZ1	chr15:51045622-51046019	K562	blood:	n/a	n/a
21	ZNF384	chr15:51044918-51045135	K562	blood:	n/a	n/a
22	ZNF384	chr15:51045439-51046172	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:51044672-51044722	Hela-S3	cervix:	n/a
2	chr15:51044672-51044722	PFSK-1	brain:	n/a
3	chr15:51044672-51044722	NHBE	bronchial:	n/a
4	chr15:51044672-51044722	AG04450	lung:	fetal
5	chr15:51044672-51044722	HRPEpiC	eye:	n/a
6	chr15:51044672-51044722	Jurkat	blood:	n/a
7	chr15:51044672-51044722	LNCaP	prostate:	n/a
8	chr15:51044672-51044722	Caco-2	colon:	n/a
9	chr15:51044672-51044722	T-47D	breast:	n/a
10	chr15:51044672-51044722	GM06990	blood:	n/a
11	chr15:51044672-51044722	NB4	blood:	n/a
12	chr15:51044672-51044722	HepG2	liver:	n/a
13	chr15:51044672-51044722	HCM	heart:	n/a
14	chr15:51044672-51044722	H1-hESC	embryonic stem cell:	embryo
15	chr15:51044672-51044722	HIPEpiC	eye:	n/a
16	chr15:51044672-51044722	MCF-7	breast:	n/a
17	chr15:51044672-51044722	HUVEC	blood vessel:	n/a
18	chr15:51044672-51044722	GM12891	blood:	n/a
19	chr15:51044672-51044722	ovcar-3	ovarian:	n/a
20	chr15:51044672-51044722	Hepatocyte	liver:	n/a
21	chr15:51044672-51044722	PANC-1	pancreas:	n/a
22	chr15:51044672-51044722	SAEC	small airway:	n/a
23	chr15:51044672-51044722	SK-N-SH_RA	brain:	n/a
24	chr15:51044672-51044722	HNPCEpiC	eye:	n/a
25	chr15:51044672-51044722	HAEpiC	amniotic membrane:	n/a
26	chr15:51044672-51044722	BJ	skin:	n/a
27	chr15:51044672-51044722	ECC-1	luminal epithelium:	n/a
28	chr15:51044672-51044722	NHDF-neo	bronchial:	n/a
29	chr15:51044672-51044722	PrEC	prostate:	n/a
30	chr15:51044672-51044722	HL-60	blood:	n/a
31	chr15:51044672-51044722	HCF	heart:	n/a
32	chr15:51044672-51044722	HRE	kidney:	n/a
33	chr15:51044672-51044722	GM19239	blood:	n/a
34	chr15:51044672-51044722	BE2_C	brain:	n/a
35	chr15:51044672-51044722	SK-N-MC	brain:	n/a
36	chr15:51044672-51044722	ProgFib	skin:	n/a
37	chr15:51044672-51044722	GM12878	blood:	n/a
38	chr15:51044672-51044722	HCT-116	colon:	n/a
39	chr15:51044672-51044722	A549	lung:	n/a
40	chr15:51044672-51044722	NT2-D1	testis:	n/a
41	chr15:51044672-51044722	HEEpiC	esophagus:	n/a
42	chr15:51044672-51044722	AG09319	gingival:	n/a
43	chr15:51044672-51044722	HRCEpiC	kidney:	n/a
44	chr15:51044672-51044722	AG09309	skin:	n/a
45	chr15:51044672-51044722	SK-N-SH	brain:	n/a
46	chr15:51044672-51044722	U87	brain:	n/a
47	chr15:51044672-51044722	AG04449	skin:	fetal
48	chr15:51044672-51044722	NH-A	brain:	n/a
49	chr15:51044672-51044722	HEK293	kidney:	embryo
50	chr15:51044672-51044722	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50987564..50989809-chr15:51045515..51047081,2	MCF-7	breast:
2	chr15:50977470..50980168-chr15:51041572..51044508,3	MCF-7	breast:
3	chr15:50978651..50980490-chr15:51043656..51047241,4	K562	blood:
4	chr15:51039307..51042785-chr15:51044008..51048436,3	MCF-7	breast:
5	chr15:51042311..51046863-chr15:51056466..51060433,4	MCF-7	breast:

Variant related genes	Relation type
SPPL2A	TF binding region
SPPL2A	CpG island
ENSG00000092439	chromatin interactions
ENSG00000138600	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551661322	chr15:51044046-51044047	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs560287278	chr15:51044062-51044063	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs111530491	chr15:51044076-51044077	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs138505825	chr15:51044093-51044094	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs141517713	chr15:51044105-51044106	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs573644749	chr15:51044129-51044130	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs567385312	chr15:51044172-51044173	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188687600	chr15:51044217-51044218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544093668	chr15:51044264-51044265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549791254	chr15:51044348-51044349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144466328	chr15:51044370-51044371	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538877125	chr15:51044455-51044456	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148793484	chr15:51044458-51044459	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28859950	chr15:51044465-51044466	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532745766	chr15:51044554-51044555	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs56811013	chr15:51044596-51044597	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs191362227	chr15:51044608-51044609	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183505733	chr15:51044681-51044682	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs544271110	chr15:51044686-51044687	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs188575317	chr15:51044750-51044751	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191484537	chr15:51044816-51044817	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150871129	chr15:51044822-51044823	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184732802	chr15:51044826-51044827	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112938393	chr15:51044914-51044915	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75943490	chr15:51044916-51044917	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113874704	chr15:51044928-51044929	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560449259	chr15:51044935-51044936	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140089324	chr15:51044991-51044992	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs79610173	chr15:51044992-51044993	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560813562	chr15:51045002-51045003	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190391564	chr15:51045018-51045019	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549616653	chr15:51045022-51045023	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377748476	chr15:51045067-51045068	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140867340	chr15:51045099-51045100	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs71471514	chr15:51045107-51045108	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181658323	chr15:51045163-51045164	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs71471515	chr15:51045181-51045182	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536445900	chr15:51045188-51045189	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554789563	chr15:51045223-51045224	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569760231	chr15:51045262-51045263	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs16963874	chr15:51045362-51045363	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567070396	chr15:51045389-51045390	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187574684	chr15:51045407-51045408	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577956639	chr15:51045454-51045455	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189338262	chr15:51045459-51045460	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs180916860	chr15:51045513-51045514	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs185131322	chr15:51045526-51045527	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111667833	chr15:51045536-51045537	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs149766488	chr15:51045538-51045539	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs58695039	chr15:51045553-51045554	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50988000-51056800	Weak transcription	Esophagus	oesophagus
2	chr15:50995600-51046000	Weak transcription	Small Intestine	intestine
3	chr15:50997000-51044800	Weak transcription	K562	blood
4	chr15:51000000-51045000	Weak transcription	NHEK	skin
5	chr15:51004000-51056200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:51011400-51045000	Weak transcription	Fetal Heart	heart
7	chr15:51020000-51045600	Weak transcription	Stomach Mucosa	stomach
8	chr15:51022600-51047600	Weak transcription	Aorta	Aorta
9	chr15:51028400-51045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:51028600-51055400	Weak transcription	Dnd41	blood
11	chr15:51029800-51045400	Weak transcription	Hela-S3	cervix
12	chr15:51029800-51055200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:51031200-51045400	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:51031400-51056400	Weak transcription	Fetal Brain Female	brain
15	chr15:51032000-51046400	Weak transcription	Fetal Brain Male	brain
16	chr15:51032000-51056000	Weak transcription	HSMM	muscle
17	chr15:51033400-51049600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:51035600-51055400	Weak transcription	Primary T cells from cord blood	blood
19	chr15:51037800-51047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:51038200-51046000	Weak transcription	Gastric	stomach
21	chr15:51038200-51047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:51038200-51053400	Weak transcription	Spleen	Spleen
23	chr15:51038600-51056000	Weak transcription	Thymus	Thymus
24	chr15:51039200-51047400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:51039200-51053000	Weak transcription	Fetal Intestine Small	intestine
26	chr15:51039200-51055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:51039600-51045000	Weak transcription	HMEC	breast
28	chr15:51039600-51046000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:51039600-51053400	Weak transcription	Left Ventricle	heart
30	chr15:51039600-51054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:51039600-51054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:51039600-51056200	Weak transcription	NH-A	brain
33	chr15:51039800-51045000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:51039800-51055200	Weak transcription	Fetal Thymus	thymus
35	chr15:51039800-51056600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:51040000-51048000	Weak transcription	HSMMtube	muscle
37	chr15:51040000-51055200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:51040000-51056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:51040000-51056200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:51040000-51056200	Weak transcription	Brain Germinal Matrix	brain
41	chr15:51040200-51045200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:51040200-51045400	Weak transcription	A549	lung
43	chr15:51040200-51047600	Weak transcription	NHDF-Ad	bronchial
44	chr15:51040200-51047600	Weak transcription	Osteobl	bone
45	chr15:51040200-51056400	Weak transcription	Fetal Intestine Large	intestine
46	chr15:51040400-51046400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:51040400-51054600	Weak transcription	Primary B cells from cord blood	blood
48	chr15:51040400-51056400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:51040400-51056800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:51041000-51056400	Weak transcription	Colonic Mucosa	Colon

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