Variant report

Variant	esv3311835
Chromosome Location	chr15:75867147-75867689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75856629..75858738-chr15:75865984..75868280,2	K562	blood:
2	chr15:75865359..75867704-chr15:75932021..75934061,2	MCF-7	breast:
3	chr1:17229749..17231799-chr15:75867380..75868889,2	K562	blood:
4	chr15:75862791..75867744-chr15:75868149..75872408,7	MCF-7	breast:
5	chr15:75864375..75868073-chr15:75869193..75873820,11	K562	blood:
6	chr15:75859984..75863258-chr15:75866377..75869193,4	K562	blood:
7	chr15:75860084..75867497-chr15:75867809..75873787,11	MCF-7	breast:
8	chr1:149224401..149225908-chr15:75865883..75867385,2	MCF-7	breast:
9	chr15:75846082..75849079-chr15:75867653..75869638,2	K562	blood:
10	chr15:75860740..75863258-chr15:75866377..75868431,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX33-3	chr15:75867286-75868093	l_1190_chr15:75866560-75868093_testes

No data

Variant related genes	Relation type
ENSG00000169410	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000177971	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140798355	chr15:75867151-75867152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11635588	chr15:75867173-75867174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558316078	chr15:75867174-75867175	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112559598	chr15:75867234-75867235	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551633392	chr15:75867313-75867314	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs377012904	chr15:75867343-75867344	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs141738486	chr15:75867350-75867351	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs150608482	chr15:75867351-75867352	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs368208883	chr15:75867416-75867417	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs113003033	chr15:75867484-75867485	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs572037345	chr15:75867509-75867510	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs540899561	chr15:75867591-75867592	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs369148211	chr15:75867611-75867612	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs371638904	chr15:75867612-75867613	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs374660949	chr15:75867613-75867614	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs566866763	chr15:75867622-75867623	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs184763855	chr15:75867644-75867645	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs189534068	chr15:75867689-75867690	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75819600-75869200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:75819800-75869600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr15:75823800-75869600	Weak transcription	Fetal Thymus	thymus
4	chr15:75824600-75869800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:75837000-75869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:75837400-75869800	Weak transcription	Thymus	Thymus
7	chr15:75837600-75869400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:75837600-75869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:75839600-75869800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:75846200-75870200	Weak transcription	Esophagus	oesophagus
11	chr15:75847400-75869600	Weak transcription	Fetal Muscle Leg	muscle
12	chr15:75852800-75868400	Weak transcription	HepG2	liver
13	chr15:75853200-75869400	Weak transcription	Fetal Kidney	kidney
14	chr15:75854800-75869400	Weak transcription	HSMM	muscle
15	chr15:75854800-75869600	Weak transcription	Fetal Intestine Large	intestine
16	chr15:75854800-75869600	Weak transcription	Small Intestine	intestine
17	chr15:75857200-75868400	Weak transcription	Placenta	Placenta
18	chr15:75857800-75869600	Weak transcription	Ovary	ovary
19	chr15:75858000-75869200	Weak transcription	Fetal Lung	lung
20	chr15:75858200-75869400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:75858400-75869200	Weak transcription	HSMMtube	muscle
22	chr15:75861400-75869400	Weak transcription	Brain Substantia Nigra	brain
23	chr15:75862000-75869200	Weak transcription	Liver	Liver
24	chr15:75862200-75869800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:75862600-75869400	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:75862800-75869400	Weak transcription	Brain Anterior Caudate	brain
27	chr15:75862800-75869600	Weak transcription	Primary T cells from cord blood	blood
28	chr15:75863000-75868600	Weak transcription	Right Atrium	heart
29	chr15:75863000-75869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:75863000-75869600	Weak transcription	Right Ventricle	heart
31	chr15:75863000-75869800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:75863200-75869400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:75863200-75869600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:75863200-75869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:75863200-75869600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:75863400-75867800	Weak transcription	Dnd41	blood
37	chr15:75864800-75868400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:75864800-75869600	Weak transcription	Fetal Stomach	stomach
39	chr15:75865000-75867600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:75865000-75868400	Weak transcription	Fetal Brain Male	brain
41	chr15:75865000-75869400	Weak transcription	Brain Angular Gyrus	brain
42	chr15:75865000-75870000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:75865000-75870200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:75865000-75870200	Weak transcription	Gastric	stomach
45	chr15:75865400-75867200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:75865600-75869400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:75865600-75869400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr15:75865600-75869400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:75865600-75869400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr15:75865600-75869600	Weak transcription	Colonic Mucosa	Colon

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