Variant report

Variant	esv3335224
Chromosome Location	chr15:34644977-34645574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34394445..34396841-chr15:34644524..34647284,2	K562	blood:
2	chr15:34642499..34645200-chr15:34648396..34650653,3	K562	blood:
3	chr15:34638937..34641770-chr15:34643644..34645209,2	K562	blood:
4	chr15:34636305..34639734-chr15:34642607..34646220,3	K562	blood:

Variant related genes	Relation type
ENSG00000184507	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72722512	chr15:34644985-34644986	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566210963	chr15:34644998-34644999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12904471	chr15:34645036-34645037	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35342150	chr15:34645058-34645059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181552535	chr15:34645153-34645154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184134119	chr15:34645216-34645217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532698513	chr15:34645227-34645228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544820109	chr15:34645254-34645255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112596312	chr15:34645261-34645262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530431166	chr15:34645277-34645278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188484212	chr15:34645299-34645300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566919933	chr15:34645365-34645366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117227252	chr15:34645390-34645391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569814333	chr15:34645394-34645395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371957205	chr15:34645397-34645398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189420	chr15:34645422-34645423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530739018	chr15:34645498-34645499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143771094	chr15:34645499-34645500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368699601	chr15:34645521-34645522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34393830	chr15:34645539-34645540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568796793	chr15:34645540-34645541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111830787	chr15:34645548-34645549	Weak transcription Strong transcription	Chromatin interactive region	1 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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34635400-34645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:34635400-34645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:34635400-34645800	Weak transcription	Esophagus	oesophagus
4	chr15:34635400-34645800	Weak transcription	Gastric	stomach
5	chr15:34635400-34645800	Weak transcription	Stomach Mucosa	stomach
6	chr15:34635400-34647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:34635400-34647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:34635400-34649000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:34635600-34645400	Weak transcription	Fetal Intestine Small	intestine
10	chr15:34635600-34645600	Weak transcription	Primary T cells from cord blood	blood
11	chr15:34635600-34645800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:34635600-34646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:34635600-34646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr15:34635600-34647400	Weak transcription	Osteobl	bone
15	chr15:34635600-34647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:34635600-34648600	Weak transcription	GM12878-XiMat	blood
17	chr15:34635600-34651200	Weak transcription	Pancreas	Pancrea
18	chr15:34635600-34657200	Weak transcription	Right Atrium	heart
19	chr15:34635800-34645600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:34635800-34645600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:34635800-34645800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:34635800-34645800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:34635800-34645800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:34635800-34645800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:34635800-34645800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:34635800-34646400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:34635800-34646600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:34635800-34646600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:34635800-34646800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:34635800-34647000	Weak transcription	NHEK	skin
31	chr15:34635800-34647600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr15:34635800-34648000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:34635800-34648000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr15:34635800-34648200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:34635800-34648400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:34635800-34648400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:34635800-34648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:34635800-34648800	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:34635800-34649000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:34635800-34650600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr15:34635800-34650800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr15:34635800-34650800	Weak transcription	Small Intestine	intestine
43	chr15:34635800-34652600	Weak transcription	Fetal Heart	heart
44	chr15:34636000-34646200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:34636000-34647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:34636000-34649000	Weak transcription	Dnd41	blood
47	chr15:34638800-34645800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:34638800-34647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:34638800-34647200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:34638800-34648000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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