Variant report

Variant	esv3436108
Chromosome Location	chr15:31849560-31853958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs4260016	chr15:31849579-31849580	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151086683	chr15:31849613-31849614	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141353475	chr15:31849663-31849664	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555320370	chr15:31849745-31849746	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568807430	chr15:31849755-31849756	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192505551	chr15:31849761-31849762	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs116221927	chr15:31849777-31849778	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577260592	chr15:31849788-31849789	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545992575	chr15:31849821-31849822	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79609559	chr15:31849834-31849835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573176618	chr15:31849848-31849849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6493777	chr15:31849879-31849880	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548712578	chr15:31849885-31849886	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375049165	chr15:31849977-31849978	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201674582	chr15:31849984-31849985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535296310	chr15:31849994-31849995	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112237576	chr15:31850002-31850003	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561633676	chr15:31850047-31850048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530739211	chr15:31850053-31850054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138882242	chr15:31850056-31850057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140473260	chr15:31850058-31850059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145629541	chr15:31850060-31850061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185113489	chr15:31850062-31850063	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566430764	chr15:31850105-31850106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73372564	chr15:31850143-31850144	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549029769	chr15:31850150-31850151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553402450	chr15:31850165-31850166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568768322	chr15:31850217-31850218	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28402940	chr15:31850275-31850276	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532049485	chr15:31850296-31850297	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557550507	chr15:31850311-31850312	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570958260	chr15:31850321-31850322	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60460548	chr15:31850330-31850331	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553207286	chr15:31850342-31850343	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs55916017	chr15:31850378-31850379	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143624726	chr15:31850468-31850469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535433219	chr15:31850488-31850489	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555386789	chr15:31850546-31850547	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575178044	chr15:31850551-31850552	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376197723	chr15:31850649-31850650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544107814	chr15:31850659-31850660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564281160	chr15:31850697-31850698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577779151	chr15:31850700-31850701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189944447	chr15:31850828-31850829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559972823	chr15:31850840-31850841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16956871	chr15:31850841-31850842	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548990759	chr15:31850850-31850851	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562477668	chr15:31850854-31850855	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570058685	chr15:31850856-31850857	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8024709	chr15:31850925-31850926	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	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
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31838200-31854200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31842400-31852600	Weak transcription	Colonic Mucosa	Colon
3	chr15:31843200-31850200	Weak transcription	Pancreas	Pancrea
4	chr15:31846400-31867800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:31847000-31849600	Weak transcription	Ovary	ovary
6	chr15:31847000-31851600	Weak transcription	NHDF-Ad	bronchial
7	chr15:31847200-31850600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:31847200-31852600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:31847400-31852000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:31847800-31851000	Weak transcription	Gastric	stomach
11	chr15:31848000-31849800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:31848000-31851200	Weak transcription	Spleen	Spleen
13	chr15:31848000-31852200	Weak transcription	Right Atrium	heart
14	chr15:31848000-31853400	Weak transcription	Adipose Nuclei	Adipose
15	chr15:31848200-31851400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:31848400-31851200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr15:31848600-31852600	Weak transcription	Left Ventricle	heart
18	chr15:31848600-31853000	Weak transcription	Right Ventricle	heart
19	chr15:31848800-31851200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:31849000-31851200	Strong transcription	Brain Anterior Caudate	brain
21	chr15:31849200-31849800	ZNF genes & repeats	Lung	lung
22	chr15:31849200-31851400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr15:31849200-31851800	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr15:31849200-31851800	Strong transcription	Brain Substantia Nigra	brain
25	chr15:31849200-31852800	Weak transcription	Brain Germinal Matrix	brain
26	chr15:31849400-31849600	ZNF genes & repeats	Aorta	Aorta
27	chr15:31849400-31850200	Strong transcription	Brain Angular Gyrus	brain
28	chr15:31849400-31850400	Strong transcription	Fetal Brain Female	brain
29	chr15:31849400-31851200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:31849400-31851600	Strong transcription	Brain Hippocampus Middle	brain
31	chr15:31849400-31859200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:31849600-31850200	Weak transcription	Aorta	Aorta
33	chr15:31849600-31851400	Strong transcription	Ovary	ovary
34	chr15:31849800-31850400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:31849800-31851200	Weak transcription	Lung	lung
36	chr15:31850200-31850400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:31850200-31850400	ZNF genes & repeats	Aorta	Aorta
38	chr15:31850200-31850400	Genic enhancers	Pancreas	Pancrea
39	chr15:31850200-31858800	Weak transcription	Brain Angular Gyrus	brain
40	chr15:31850400-31851400	Strong transcription	Pancreas	Pancrea
41	chr15:31850400-31858600	Weak transcription	Fetal Brain Female	brain
42	chr15:31850400-31858800	Weak transcription	Aorta	Aorta
43	chr15:31850400-31860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:31850600-31850800	Enhancers	Fetal Stomach	stomach
45	chr15:31850800-31851800	Weak transcription	Fetal Stomach	stomach
46	chr15:31851000-31851400	Strong transcription	Gastric	stomach
47	chr15:31851200-31851400	Enhancers	Lung	lung
48	chr15:31851200-31851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:31851200-31859200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:31851200-31861200	Weak transcription	Brain Anterior Caudate	brain

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