Variant report

Variant	esv3397782
Chromosome Location	chr15:33068885-33071508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71818992	chr15:33068889-33068890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371565425	chr15:33068890-33068891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74011959	chr15:33068891-33068892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201365211	chr15:33068914-33068915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571299281	chr15:33068929-33068930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150830531	chr15:33069027-33069028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374235891	chr15:33069102-33069103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557142740	chr15:33069177-33069178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191490694	chr15:33069187-33069188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542468352	chr15:33069240-33069241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80062147	chr15:33069304-33069305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139613476	chr15:33069349-33069350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540547006	chr15:33069356-33069357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564918193	chr15:33069365-33069366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544927688	chr15:33069373-33069374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200096261	chr15:33069431-33069432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562645600	chr15:33069433-33069434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1258739	chr15:33069435-33069436	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377183667	chr15:33069532-33069533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75499970	chr15:33069546-33069547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560767116	chr15:33069553-33069554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527964247	chr15:33069574-33069575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552944589	chr15:33069577-33069578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539282127	chr15:33069620-33069621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112875247	chr15:33069636-33069637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149752638	chr15:33069648-33069649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370111679	chr15:33069665-33069666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373076483	chr15:33069666-33069667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377693757	chr15:33069667-33069668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371226653	chr15:33069668-33069669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34999341	chr15:33069669-33069670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67598625	chr15:33069672-33069673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72339098	chr15:33069673-33069674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571260263	chr15:33069674-33069675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538643260	chr15:33069676-33069677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550656716	chr15:33069678-33069679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555080533	chr15:33069681-33069682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147823076	chr15:33069683-33069684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567210928	chr15:33069705-33069706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199698159	chr15:33069714-33069715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72012342	chr15:33069729-33069730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369288591	chr15:33069733-33069734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201723017	chr15:33069736-33069737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376340517	chr15:33069738-33069739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373857402	chr15:33069739-33069740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184020318	chr15:33069751-33069752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71424669	chr15:33069758-33069759	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187735964	chr15:33069760-33069761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139705420	chr15:33069788-33069789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10672366	chr15:33069814-33069815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Autism	19521722	CNVD
Bipolar disorder	19114987	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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33058200-33069800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:33060600-33097600	Weak transcription	Thymus	Thymus
3	chr15:33061200-33070200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:33061200-33141000	Weak transcription	Placenta	Placenta
5	chr15:33062600-33069600	Weak transcription	Stomach Mucosa	stomach
6	chr15:33062600-33111200	Weak transcription	Gastric	stomach
7	chr15:33063000-33069200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:33063200-33082400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:33063800-33094400	Weak transcription	Fetal Stomach	stomach
10	chr15:33064000-33069800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:33064000-33070600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:33064800-33074000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:33065400-33070600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:33065800-33098600	Weak transcription	Colonic Mucosa	Colon
15	chr15:33066200-33069200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:33066800-33070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:33067000-33070600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:33067200-33071000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr15:33067200-33077800	Weak transcription	NHLF	lung
20	chr15:33067200-33089000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:33067400-33070800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:33067400-33070800	Weak transcription	NHDF-Ad	bronchial
23	chr15:33067400-33076600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:33067400-33078800	Weak transcription	HSMMtube	muscle
25	chr15:33067600-33071200	Weak transcription	HSMM	muscle
26	chr15:33068000-33069200	Enhancers	Osteobl	bone
27	chr15:33068400-33070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:33068600-33069200	Enhancers	A549	lung
29	chr15:33068600-33070600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:33068800-33070400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:33068800-33073600	Weak transcription	NH-A	brain
32	chr15:33069200-33071200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:33069200-33074000	Weak transcription	Osteobl	bone
34	chr15:33069800-33070600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:33070200-33070400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:33070600-33071000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr15:33070600-33071400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:33070600-33072200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:33070600-33072800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr15:33070600-33078600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:33070800-33071400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:33070800-33071400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr15:33070800-33071400	ZNF genes & repeats	NHDF-Ad	bronchial
44	chr15:33071200-33071800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:33071200-33072400	ZNF genes & repeats	HSMM	muscle
46	chr15:33071400-33073600	Weak transcription	NHDF-Ad	bronchial
47	chr15:33071400-33076000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:33071400-33081000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:33071400-33082600	Weak transcription	Rectal Mucosa Donor 31	rectum

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