Variant report

Variant	esv11851
Chromosome Location	chr15:74725524-74726192
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	ATF2	chr15:74725996-74726787	GM12878	blood:	n/a	n/a
2	BACH1	chr15:74725857-74726057	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr15:74725906-74725939	K562	blood:	n/a	n/a
4	BATF	chr15:74726148-74726611	GM12878	blood:	n/a	n/a
5	BCL3	chr15:74726038-74726603	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726063-74726076
6	BCLAF1	chr15:74725906-74726705	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726022-74726035 chr15:74726063-74726076
7	BCLAF1	chr15:74726006-74726666	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726022-74726035 chr15:74726063-74726076
8	BHLHE40	chr15:74725905-74726657	HepG2	liver:	n/a	chr15:74726022-74726038
9	BHLHE40	chr15:74725856-74726684	K562	blood:	n/a	chr15:74726022-74726038
10	BHLHE40	chr15:74725918-74726764	GM12878	blood:	n/a	chr15:74726022-74726038
11	CBX3	chr15:74725794-74726155	K562	blood:	n/a	n/a
12	CCNT2	chr15:74724803-74726548	K562	blood:	n/a	chr15:74725140-74725149 chr15:74726366-74726375 chr15:74725787-74725796 chr15:74725056-74725065 chr15:74726361-74726370 chr15:74726373-74726382 chr15:74725169-74725178
13	CEBPD	chr15:74726093-74726573	HepG2	liver:	n/a	n/a
14	CEBPD	chr15:74726114-74726409	HepG2	liver:	n/a	n/a
15	CHD1	chr15:74725764-74726566	GM12878	blood:	n/a	chr15:74726359-74726369 chr15:74726366-74726376
16	CHD1	chr15:74722244-74727150	IMR90	lung:	n/a	chr15:74726359-74726369 chr15:74725431-74725441 chr15:74725141-74725151 chr15:74726366-74726376
17	CHD1	chr15:74725950-74726199	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr15:74725926-74726126	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr15:74725995-74726011	HepG2	liver:	n/a	n/a
20	CHD2	chr15:74725853-74726734	K562	blood:	n/a	chr15:74726359-74726369 chr15:74726366-74726376
21	CHD2	chr15:74726011-74727069	GM12878	blood:	n/a	chr15:74726359-74726369 chr15:74726366-74726376
22	CREB1	chr15:74725839-74726472	K562	blood:	n/a	n/a
23	CREB1	chr15:74725827-74726736	GM12878	blood:	n/a	n/a
24	CTCF	chr15:74725380-74725530	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr15:74726179-74726322	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr15:74725960-74726110	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr15:74725960-74726110	SAEC	small airway:	n/a	n/a
28	CTCF	chr15:74725955-74726199	K562	blood:	n/a	n/a
29	CTCF	chr15:74725831-74726351	K562	blood:	n/a	chr15:74726330-74726343
30	CTCF	chr15:74725980-74726130	HMEC	breast:	n/a	n/a
31	CTCF	chr15:74725940-74726090	SAEC	small airway:	n/a	n/a
32	CTCF	chr15:74725960-74726110	AG04449	skin:	n/a	n/a
33	CTCF	chr15:74725960-74726110	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr15:74726020-74726170	GM12874	blood:	n/a	n/a
35	CTCF	chr15:74726160-74726310	GM12865	blood:	n/a	n/a
36	E2F4	chr15:74725997-74727183	K562	blood:	n/a	chr15:74726516-74726526
37	E2F6	chr15:74725839-74726388	K562	blood:	n/a	n/a
38	E2F6	chr15:74725835-74726742	K562	blood:	n/a	chr15:74726516-74726526
39	EBF1	chr15:74726147-74726727	GM12878	blood:	n/a	n/a
40	EBF1	chr15:74726053-74726722	GM12878	blood:	n/a	n/a
41	EBF1	chr15:74725213-74725562	GM12878	blood:	n/a	n/a
42	EGR1	chr15:74725982-74726377	K562	blood:	n/a	chr15:74726242-74726256 chr15:74725990-74725999 chr15:74726223-74726237
43	EGR1	chr15:74725780-74726411	K562	blood:	n/a	chr15:74726242-74726256 chr15:74725781-74725796 chr15:74725782-74725795 chr15:74725782-74725795 chr15:74725990-74725999 chr15:74725783-74725793 chr15:74726223-74726237
44	EGR1	chr15:74726054-74726480	GM12878	blood:	n/a	chr15:74726242-74726256 chr15:74726223-74726237
45	EGR1	chr15:74726149-74726336	GM12878	blood:	n/a	chr15:74726242-74726256 chr15:74726223-74726237
46	ELF1	chr15:74725613-74726933	GM12878	blood:	n/a	chr15:74725667-74725679 chr15:74725853-74725865
47	ELF1	chr15:74725966-74726720	MCF-7	breast:	n/a	n/a
48	ELF1	chr15:74725970-74726548	K562	blood:	n/a	n/a
49	ELF1	chr15:74725631-74726756	GM12878	blood:	n/a	chr15:74725667-74725679 chr15:74725853-74725865
50	ELF1	chr15:74726005-74726607	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:74725662-74725712	T-47D	breast:	n/a
2	chr15:74726143-74726193	K562	blood:	n/a
3	chr15:74726143-74726193	SKMC	muscle:	n/a
4	chr15:74725882-74725932	HRCEpiC	kidney:	n/a
5	chr15:74725593-74725643	HAEpiC	amniotic membrane:	n/a
6	chr15:74725593-74725643	CMK	blood:	n/a
7	chr15:74725882-74725932	HEEpiC	esophagus:	n/a
8	chr15:74725662-74725712	HMEC	breast:	n/a
9	chr15:74726136-74726186	GM12892	blood:	n/a
10	chr15:74726139-74726189	HRE	kidney:	n/a
11	chr15:74726139-74726189	NH-A	brain:	n/a
12	chr15:74725980-74726030	AG04449	skin:	fetal
13	chr15:74726143-74726193	Hepatocyte	liver:	n/a
14	chr15:74726136-74726186	SK-N-SH	brain:	n/a
15	chr15:74726136-74726186	HNPCEpiC	eye:	n/a
16	chr15:74725662-74725712	SK-N-SH	brain:	n/a
17	chr15:74725593-74725643	Caco-2	colon:	n/a
18	chr15:74725882-74725932	GM12891	blood:	n/a
19	chr15:74725882-74725932	HRPEpiC	eye:	n/a
20	chr15:74725593-74725643	ECC-1	luminal epithelium:	n/a
21	chr15:74725980-74726030	AG10803	skin:	n/a
22	chr15:74726136-74726186	HEEpiC	esophagus:	n/a
23	chr15:74726143-74726193	SK-N-SH	brain:	n/a
24	chr15:74725980-74726030	HNPCEpiC	eye:	n/a
25	chr15:74725662-74725712	SK-N-MC	brain:	n/a
26	chr15:74725882-74725932	HEK293	kidney:	embryo
27	chr15:74726143-74726193	HNPCEpiC	eye:	n/a
28	chr15:74726143-74726193	A549	lung:	n/a
29	chr15:74725593-74725643	HepG2	liver:	n/a
30	chr15:74726143-74726193	H1-hESC	embryonic stem cell:	embryo
31	chr15:74726143-74726193	SK-N-MC	brain:	n/a
32	chr15:74726136-74726186	HCM	heart:	n/a
33	chr15:74726136-74726186	HUVEC	blood vessel:	n/a
34	chr15:74726136-74726186	HRE	kidney:	n/a
35	chr15:74726136-74726186	BE2_C	brain:	n/a
36	chr15:74725593-74725643	NHDF-neo	bronchial:	n/a
37	chr15:74725662-74725712	AG09319	gingival:	n/a
38	chr15:74725882-74725932	SAEC	small airway:	n/a
39	chr15:74725980-74726030	LNCaP	prostate:	n/a
40	chr15:74726139-74726189	K562	blood:	n/a
41	chr15:74725593-74725643	Hela-S3	cervix:	n/a
42	chr15:74726143-74726193	AG10803	skin:	n/a
43	chr15:74725882-74725932	T-47D	breast:	n/a
44	chr15:74725980-74726030	HEK293	kidney:	embryo
45	chr15:74725662-74725712	HEEpiC	esophagus:	n/a
46	chr15:74725980-74726030	Hepatocyte	liver:	n/a
47	chr15:74726143-74726193	HAEpiC	amniotic membrane:	n/a
48	chr15:74725593-74725643	AG04450	lung:	fetal
49	chr15:74726143-74726193	PANC-1	pancreas:	n/a
50	chr15:74726136-74726186	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74724666..74727655-chr15:74741238..74745335,3	MCF-7	breast:
2	chr15:74725782..74726755-chr17:41465710..41466295,2	NB4	blood:
3	chr15:74725986..74726600-chrX:46771960..46772662,2	NB4	blood:
4	chr15:74676164..74677951-chr15:74723828..74725756,2	MCF-7	breast:
5	chr15:74725918..74726573-chr6:157802147..157802863,2	HCT-116	colon:
6	chr15:74724949..74727531-chr15:74752948..74755543,2	K562	blood:
7	chr15:74724949..74728351-chr15:74752030..74754909,4	K562	blood:
8	chr12:22777643..22778220-chr15:74725782..74726536,2	NB4	blood:

Variant related genes	Relation type
SEMA7A	TF binding region
SEMA7A	CpG island
ENSG00000257023	chromatin interactions
ENSG00000102221	chromatin interactions
ENSG00000138629	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000175048	chromatin interactions
ENSG00000139163	chromatin interactions
ENSG00000247240	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543601640	chr15:74725554-74725555	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554960909	chr15:74725672-74725673	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566898308	chr15:74725782-74725783	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs183120031	chr15:74725802-74725803	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs12910841	chr15:74725822-74725823	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1437655	chr15:74725823-74725824	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs577622736	chr15:74725914-74725915	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs187798281	chr15:74725943-74725944	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs554043915	chr15:74725962-74725963	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs190321670	chr15:74725966-74725967	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs543328759	chr15:74725973-74725974	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs144642175	chr15:74726062-74726063	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs550611342	chr15:74726066-74726067	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs531735795	chr15:74726072-74726073	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs543975316	chr15:74726092-74726093	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs370718073	chr15:74726132-74726133	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74721200-74726400	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr15:74723200-74725800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr15:74723400-74726600	Active TSS	HSMMtube	muscle
4	chr15:74723600-74726000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr15:74723600-74726200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:74724200-74725600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
7	chr15:74724200-74726400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:74724200-74726400	Active TSS	Osteobl	bone
9	chr15:74724400-74725600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:74724400-74725800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:74724600-74725600	Enhancers	Pancreas	Pancrea
12	chr15:74724600-74725600	Flanking Bivalent TSS/Enh	Dnd41	blood
13	chr15:74724600-74726600	Active TSS	Brain Angular Gyrus	brain
14	chr15:74724600-74727000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:74724800-74725600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:74724800-74725600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr15:74724800-74725800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:74724800-74726000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr15:74724800-74726400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:74724800-74726400	Active TSS	Primary T cells from cord blood	blood
21	chr15:74724800-74726400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr15:74724800-74726400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr15:74724800-74726600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr15:74724800-74726600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr15:74724800-74726600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:74725000-74725600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr15:74725000-74725600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:74725000-74725600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:74725000-74725600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr15:74725000-74725800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:74725000-74725800	Active TSS	Right Atrium	heart
32	chr15:74725000-74726200	Bivalent/Poised TSS	Small Intestine	intestine
33	chr15:74725000-74726400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:74725000-74726400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:74725000-74726400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:74725000-74726400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:74725000-74726400	Active TSS	Brain Substantia Nigra	brain
38	chr15:74725000-74726400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:74725000-74726400	Active TSS	GM12878-XiMat	blood
40	chr15:74725000-74726400	Active TSS	HMEC	breast
41	chr15:74725000-74726400	Active TSS	HSMM	muscle
42	chr15:74725000-74726400	Active TSS	NH-A	brain
43	chr15:74725000-74726400	Active TSS	NHDF-Ad	bronchial
44	chr15:74725000-74726600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:74725000-74726600	Active TSS	Brain Anterior Caudate	brain
46	chr15:74725000-74726600	Active TSS	Brain Cingulate Gyrus	brain
47	chr15:74725000-74726600	Active TSS	Brain Hippocampus Middle	brain
48	chr15:74725000-74726600	Active TSS	A549	lung
49	chr15:74725000-74726800	Active TSS	Right Ventricle	heart
50	chr15:74725200-74725600	Flanking Active TSS	Gastric	stomach

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