Variant report

Variant	esv3335428
Chromosome Location	chr15:40314068-40314402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40314138..40317117-chr15:40317356..40320550,4	K562	blood:
2	chr15:40313947..40315649-chr15:40329559..40331258,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BUB1B-5	chr15:40313744-40314806	NONHSAT041785

Variant related genes	Relation type
ENSG00000140319	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11635600	chr15:40314073-40314074	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373771247	chr15:40314093-40314094	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs140934729	chr15:40314094-40314095	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs189284865	chr15:40314099-40314100	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs11635537	chr15:40314191-40314192	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs560459780	chr15:40314193-40314194	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs377181408	chr15:40314198-40314199	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs573377664	chr15:40314280-40314281	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs112985891	chr15:40314296-40314297	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs564034341	chr15:40314317-40314318	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs142104639	chr15:40314382-40314383	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs375091699	chr15:40314383-40314384	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
3	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
4	chr15:40301000-40322000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:40303000-40329600	Strong transcription	Liver	Liver
6	chr15:40303800-40320600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:40305200-40330200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:40306800-40315200	Strong transcription	NHEK	skin
9	chr15:40306800-40319200	Strong transcription	Fetal Intestine Large	intestine
10	chr15:40306800-40319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:40306800-40328800	Weak transcription	Stomach Mucosa	stomach
12	chr15:40306800-40329800	Strong transcription	Osteobl	bone
13	chr15:40307000-40315000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:40307000-40315400	Strong transcription	Fetal Stomach	stomach
15	chr15:40307000-40318600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:40307000-40329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:40307000-40329400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:40307200-40315400	Strong transcription	Fetal Muscle Leg	muscle
19	chr15:40307200-40329600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:40307400-40326800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:40307400-40329600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:40307600-40314800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr15:40307600-40314800	Strong transcription	Placenta	Placenta
24	chr15:40307600-40317400	Strong transcription	HUVEC	blood vessel
25	chr15:40307600-40319000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:40307600-40326200	Strong transcription	HSMM	muscle
27	chr15:40307600-40329200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr15:40307600-40329200	Strong transcription	HMEC	breast
29	chr15:40307800-40315400	Strong transcription	Fetal Intestine Small	intestine
30	chr15:40307800-40329600	Strong transcription	NH-A	brain
31	chr15:40307800-40330000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:40308000-40329000	Strong transcription	HepG2	liver
33	chr15:40308000-40329600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:40308000-40329800	Strong transcription	NHDF-Ad	bronchial
35	chr15:40308000-40330000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:40308200-40315000	Strong transcription	Lung	lung
37	chr15:40308200-40318200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:40308200-40319000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:40308200-40329600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr15:40308400-40315600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:40308600-40328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:40308600-40330000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:40308800-40330000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:40309000-40318800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:40309200-40329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:40309600-40315000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:40309800-40314400	Strong transcription	Right Ventricle	heart
48	chr15:40310000-40326400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr15:40310000-40329200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr15:40310000-40329400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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