Variant report

Variant	esv3442396
Chromosome Location	chr15:31205738-31206060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:31200708..31203485-chr15:31204124..31206171,2	MCF-7	breast:
2	chr15:31198827..31201820-chr15:31205721..31207628,2	K562	blood:
3	chr15:31194754..31197268-chr15:31204493..31206566,3	K562	blood:
4	chr15:31194754..31196555-chr15:31204358..31205993,2	K562	blood:

Variant related genes	Relation type
ENSG00000198690	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372724816	chr15:31205759-31205760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139461076	chr15:31205774-31205775	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527736878	chr15:31205882-31205883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552507456	chr15:31205909-31205910	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11630678	chr15:31205966-31205967	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547487034	chr15:31205986-31205987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567122648	chr15:31206013-31206014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372847367	chr15:31206019-31206020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529942718	chr15:31206028-31206029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553644149	chr15:31206034-31206035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549794869	chr15:31206042-31206043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75971779	chr15:31206047-31206048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370522157	chr15:31206052-31206053	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35601362	chr15:31206059-31206060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:154)

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
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	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
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	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
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19521722	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31196600-31210800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:31196800-31210400	Weak transcription	HSMMtube	muscle
3	chr15:31196800-31213000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:31196800-31215000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:31197000-31206200	Weak transcription	NH-A	brain
6	chr15:31197000-31210600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:31197000-31213400	Weak transcription	Stomach Mucosa	stomach
8	chr15:31197000-31216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:31197200-31214000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:31197400-31207200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:31197400-31207400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:31197400-31208400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:31197400-31210600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:31197400-31211200	Strong transcription	A549	lung
15	chr15:31197400-31215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:31198200-31210400	Weak transcription	K562	blood
17	chr15:31198200-31224000	Strong transcription	Dnd41	blood
18	chr15:31198400-31213000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:31199200-31208600	Weak transcription	Fetal Heart	heart
20	chr15:31199800-31213400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:31200000-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:31200000-31213200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:31200200-31211800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:31200200-31213400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:31200200-31214400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:31200200-31224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:31200400-31213000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr15:31200400-31213400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:31200400-31213800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:31200400-31216200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:31200400-31221200	Strong transcription	Placenta	Placenta
32	chr15:31200400-31223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:31200400-31242200	Strong transcription	Primary T cells from cord blood	blood
34	chr15:31200600-31211400	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:31200600-31254800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:31200800-31213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:31200800-31213600	Strong transcription	Liver	Liver
38	chr15:31201000-31207600	Strong transcription	NHEK	skin
39	chr15:31201000-31211200	Strong transcription	Brain Hippocampus Middle	brain
40	chr15:31201200-31207600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:31201200-31211200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:31201200-31211200	Strong transcription	Fetal Brain Female	brain
43	chr15:31201200-31211400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr15:31201200-31224000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr15:31201200-31241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:31201400-31206200	Strong transcription	Colonic Mucosa	Colon
47	chr15:31201600-31207600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr15:31201800-31206800	Weak transcription	HMEC	breast
49	chr15:31201800-31208400	Weak transcription	Hela-S3	cervix
50	chr15:31202000-31212800	Weak transcription	Psoas Muscle	Psoas

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