Variant report

Variant	esv2480100
Chromosome Location	chr15:75866167-75867820
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75860740..75863258-chr15:75866377..75868431,2	K562	blood:
2	chr1:17229749..17231799-chr15:75867380..75868889,2	K562	blood:
3	chr15:75860084..75867497-chr15:75867809..75873787,11	MCF-7	breast:
4	chr15:75859984..75863258-chr15:75866377..75869193,4	K562	blood:
5	chr15:75851394..75854536-chr15:75867744..75871108,3	K562	blood:
6	chr15:75862791..75867744-chr15:75868149..75872408,7	MCF-7	breast:
7	chr1:149224401..149225908-chr15:75865883..75867385,2	MCF-7	breast:
8	chr15:75864375..75868073-chr15:75869193..75873820,11	K562	blood:
9	chr15:75743022..75744794-chr15:75864546..75866192,2	MCF-7	breast:
10	chr15:75846082..75849079-chr15:75867653..75869638,2	K562	blood:
11	chr15:75865359..75867704-chr15:75932021..75934061,2	MCF-7	breast:
12	chr15:75856629..75858738-chr15:75865984..75868280,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX33-3	chr15:75866561-75866644	l_1190_chr15:75866560-75868093_testes
2	lnc-SNX33-3	chr15:75867286-75868093	l_1190_chr15:75866560-75868093_testes

No data

Variant related genes	Relation type
ENSG00000169375	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000169410	chromatin interactions
ENSG00000177971	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371925261	chr15:75866209-75866210	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534477203	chr15:75866242-75866243	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529479249	chr15:75866257-75866258	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550902105	chr15:75866332-75866333	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139715106	chr15:75866351-75866352	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs547837880	chr15:75866455-75866456	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187857404	chr15:75866557-75866558	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550924884	chr15:75866573-75866574	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs373662373	chr15:75866574-75866575	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs566112927	chr15:75866636-75866637	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs533601101	chr15:75866640-75866641	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs555434402	chr15:75866661-75866662	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536763925	chr15:75866687-75866688	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78942372	chr15:75866707-75866708	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556337863	chr15:75866712-75866713	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556107164	chr15:75866764-75866765	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372672746	chr15:75866809-75866810	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146637625	chr15:75866810-75866811	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114069705	chr15:75866843-75866844	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554137846	chr15:75866858-75866859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538074990	chr15:75866904-75866905	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573271275	chr15:75867079-75867080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550312693	chr15:75867080-75867081	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs4886449	chr15:75867094-75867095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs529371348	chr15:75867095-75867096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544761399	chr15:75867130-75867131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140798355	chr15:75867151-75867152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11635588	chr15:75867173-75867174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs558316078	chr15:75867174-75867175	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112559598	chr15:75867234-75867235	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551633392	chr15:75867313-75867314	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs377012904	chr15:75867343-75867344	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs141738486	chr15:75867350-75867351	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs150608482	chr15:75867351-75867352	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs368208883	chr15:75867416-75867417	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs113003033	chr15:75867484-75867485	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs572037345	chr15:75867509-75867510	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs540899561	chr15:75867591-75867592	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs369148211	chr15:75867611-75867612	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs371638904	chr15:75867612-75867613	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs374660949	chr15:75867613-75867614	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs566866763	chr15:75867622-75867623	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs184763855	chr15:75867644-75867645	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs189534068	chr15:75867689-75867690	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs548706693	chr15:75867693-75867694	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs567328248	chr15:75867696-75867697	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs111256157	chr15:75867782-75867783	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs556330579	chr15:75867791-75867792	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs199667530	chr15:75867792-75867793	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 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:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75819600-75866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:75819600-75869200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:75819800-75869600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:75823800-75869600	Weak transcription	Fetal Thymus	thymus
5	chr15:75824600-75869800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:75835200-75866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:75837000-75869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:75837400-75869800	Weak transcription	Thymus	Thymus
9	chr15:75837600-75869400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:75837600-75869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:75839600-75866200	Weak transcription	Left Ventricle	heart
12	chr15:75839600-75869800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:75846200-75870200	Weak transcription	Esophagus	oesophagus
14	chr15:75847400-75869600	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:75852800-75868400	Weak transcription	HepG2	liver
16	chr15:75853200-75869400	Weak transcription	Fetal Kidney	kidney
17	chr15:75854800-75869400	Weak transcription	HSMM	muscle
18	chr15:75854800-75869600	Weak transcription	Fetal Intestine Large	intestine
19	chr15:75854800-75869600	Weak transcription	Small Intestine	intestine
20	chr15:75857200-75868400	Weak transcription	Placenta	Placenta
21	chr15:75857800-75869600	Weak transcription	Ovary	ovary
22	chr15:75858000-75869200	Weak transcription	Fetal Lung	lung
23	chr15:75858200-75869400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:75858400-75869200	Weak transcription	HSMMtube	muscle
25	chr15:75860600-75866400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:75861400-75866400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr15:75861400-75869400	Weak transcription	Brain Substantia Nigra	brain
28	chr15:75862000-75869200	Weak transcription	Liver	Liver
29	chr15:75862200-75869800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:75862600-75869400	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:75862800-75869400	Weak transcription	Brain Anterior Caudate	brain
32	chr15:75862800-75869600	Weak transcription	Primary T cells from cord blood	blood
33	chr15:75863000-75868600	Weak transcription	Right Atrium	heart
34	chr15:75863000-75869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:75863000-75869600	Weak transcription	Right Ventricle	heart
36	chr15:75863000-75869800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:75863200-75869400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:75863200-75869600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr15:75863200-75869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:75863200-75869600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:75863400-75867800	Weak transcription	Dnd41	blood
42	chr15:75864400-75866600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:75864400-75866600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr15:75864400-75866800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr15:75864400-75866800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:75864800-75866200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:75864800-75866400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:75864800-75866400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:75864800-75867000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr15:75864800-75868400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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