Variant report

Variant	esv3397576
Chromosome Location	chr15:34638154-34639262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:34638349-34638604	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr15:34638231-34638233	K562	blood:	n/a	n/a
3	ZNF384	chr15:34638937-34639242	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:34638511-34638561	CMK	blood:	n/a
2	chr15:34638511-34638561	SK-N-SH	brain:	n/a
3	chr15:34638511-34638561	GM06990	blood:	n/a
4	chr15:34638511-34638561	NB4	blood:	n/a
5	chr15:34638511-34638561	GM12891	blood:	n/a
6	chr15:34638511-34638561	ProgFib	skin:	n/a
7	chr15:34638511-34638561	PrEC	prostate:	n/a
8	chr15:34638511-34638561	AG04450	lung:	fetal
9	chr15:34638511-34638561	NHBE	bronchial:	n/a
10	chr15:34638511-34638561	HUVEC	blood vessel:	n/a
11	chr15:34638511-34638561	HRPEpiC	eye:	n/a
12	chr15:34638511-34638561	SKMC	muscle:	n/a
13	chr15:34638511-34638561	HRE	kidney:	n/a
14	chr15:34638511-34638561	BJ	skin:	n/a
15	chr15:34638511-34638561	AG10803	skin:	n/a
16	chr15:34638511-34638561	A549	lung:	n/a
17	chr15:34638511-34638561	Jurkat	blood:	n/a
18	chr15:34638511-34638561	T-47D	breast:	n/a
19	chr15:34638511-34638561	HL-60	blood:	n/a
20	chr15:34638511-34638561	BE2_C	brain:	n/a
21	chr15:34638511-34638561	HPAEpiC	pulmonary alveolar:	n/a
22	chr15:34638511-34638561	NT2-D1	testis:	n/a
23	chr15:34638511-34638561	GM19239	blood:	n/a
24	chr15:34638511-34638561	Hela-S3	cervix:	n/a
25	chr15:34638511-34638561	LNCaP	prostate:	n/a
26	chr15:34638511-34638561	AG09309	skin:	n/a
27	chr15:34638511-34638561	IMR90	lung:	fetal
28	chr15:34638511-34638561	HEK293	kidney:	embryo
29	chr15:34638511-34638561	ECC-1	luminal epithelium:	n/a
30	chr15:34638511-34638561	HRCEpiC	kidney:	n/a
31	chr15:34638511-34638561	SK-N-SH_RA	brain:	n/a
32	chr15:34638511-34638561	HCT-116	colon:	n/a
33	chr15:34638511-34638561	HAEpiC	amniotic membrane:	n/a
34	chr15:34638511-34638561	HCF	heart:	n/a
35	chr15:34638511-34638561	Caco-2	colon:	n/a
36	chr15:34638511-34638561	SAEC	small airway:	n/a
37	chr15:34638511-34638561	HepG2	liver:	n/a
38	chr15:34638511-34638561	U87	brain:	n/a
39	chr15:34638511-34638561	PFSK-1	brain:	n/a
40	chr15:34638511-34638561	NH-A	brain:	n/a
41	chr15:34638511-34638561	HCM	heart:	n/a
42	chr15:34638511-34638561	HNPCEpiC	eye:	n/a
43	chr15:34638511-34638561	AG09319	gingival:	n/a
44	chr15:34638511-34638561	HEEpiC	esophagus:	n/a
45	chr15:34638511-34638561	SK-N-MC	brain:	n/a
46	chr15:34638511-34638561	PANC-1	pancreas:	n/a
47	chr15:34638511-34638561	GM12892	blood:	n/a
48	chr15:34638511-34638561	NHDF-neo	bronchial:	n/a
49	chr15:34638511-34638561	Hepatocyte	liver:	n/a
50	chr15:34638511-34638561	AoSMC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34638937..34641770-chr15:34643644..34645209,2	K562	blood:
2	chr15:34633865..34636798-chr15:34637017..34639359,2	K562	blood:
3	chr15:34636826..34639011-chr15:34652309..34655135,2	K562	blood:

No data

Variant related genes	Relation type
NOP10	TF binding region
NOP10	CpG island
ENSG00000184507	chromatin interactions
ENSG00000176454	chromatin interactions
ENSG00000182117	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368680128	chr15:34638189-34638190	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs12595504	chr15:34638198-34638199	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs200279336	chr15:34638236-34638237	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376561921	chr15:34638249-34638250	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533257672	chr15:34638307-34638308	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs544999559	chr15:34638332-34638333	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs563275490	chr15:34638335-34638336	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs12592913	chr15:34638342-34638343	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs78390288	chr15:34638512-34638513	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs554413156	chr15:34638526-34638527	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs402784	chr15:34638544-34638545	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146303447	chr15:34638573-34638574	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs571535258	chr15:34638613-34638614	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539316375	chr15:34638668-34638669	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs571967746	chr15:34638708-34638709	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs557409025	chr15:34638727-34638728	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs569541798	chr15:34638750-34638751	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs74244098	chr15:34638784-34638785	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
19	rs12904395	chr15:34638793-34638794	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs143039059	chr15:34638802-34638803	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs116760868	chr15:34638804-34638805	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs386782890	chr15:34638808-34638809	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs148728314	chr15:34638809-34638810	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs117073215	chr15:34638811-34638812	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs8036112	chr15:34638834-34638835	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs375590661	chr15:34638841-34638842	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs62017528	chr15:34638843-34638844	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs386782891	chr15:34638847-34638848	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs60954407	chr15:34638848-34638849	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs573338691	chr15:34638854-34638855	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs540762942	chr15:34638857-34638858	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs78871221	chr15:34638862-34638863	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs386782892	chr15:34638899-34638900	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs2935162	chr15:34638910-34638911	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs386782893	chr15:34638912-34638913	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs372012106	chr15:34638917-34638918	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs531846440	chr15:34638921-34638922	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs12900504	chr15:34638924-34638925	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs375191	chr15:34638927-34638928	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs386782894	chr15:34638967-34638968	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs386782895	chr15:34638976-34638977	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs575875583	chr15:34638979-34638980	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs380642	chr15:34638999-34639000	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs200502519	chr15:34639008-34639009	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs111747943	chr15:34639014-34639015	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs383086	chr15:34639015-34639016	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs419805	chr15:34639049-34639050	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs414896	chr15:34639064-34639065	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs2927220	chr15:34639079-34639080	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs2927219	chr15:34639081-34639082	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34635400-34638200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:34635400-34645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:34635400-34645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:34635400-34645800	Weak transcription	Esophagus	oesophagus
5	chr15:34635400-34645800	Weak transcription	Gastric	stomach
6	chr15:34635400-34645800	Weak transcription	Stomach Mucosa	stomach
7	chr15:34635400-34647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:34635400-34647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:34635400-34649000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:34635600-34640600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:34635600-34645400	Weak transcription	Fetal Intestine Small	intestine
12	chr15:34635600-34645600	Weak transcription	Primary T cells from cord blood	blood
13	chr15:34635600-34645800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:34635600-34646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:34635600-34646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:34635600-34647400	Weak transcription	Osteobl	bone
17	chr15:34635600-34647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:34635600-34648600	Weak transcription	GM12878-XiMat	blood
19	chr15:34635600-34651200	Weak transcription	Pancreas	Pancrea
20	chr15:34635600-34657200	Weak transcription	Right Atrium	heart
21	chr15:34635800-34640200	Weak transcription	Spleen	Spleen
22	chr15:34635800-34640600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:34635800-34645600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:34635800-34645600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:34635800-34645800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:34635800-34645800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:34635800-34645800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:34635800-34645800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:34635800-34645800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:34635800-34646400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:34635800-34646600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:34635800-34646600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:34635800-34646800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr15:34635800-34647000	Weak transcription	NHEK	skin
35	chr15:34635800-34647600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:34635800-34648000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:34635800-34648000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:34635800-34648200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:34635800-34648400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:34635800-34648400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:34635800-34648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:34635800-34648800	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:34635800-34649000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:34635800-34650600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:34635800-34650800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr15:34635800-34650800	Weak transcription	Small Intestine	intestine
47	chr15:34635800-34652600	Weak transcription	Fetal Heart	heart
48	chr15:34636000-34638200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr15:34636000-34638200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr15:34636000-34646200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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