Variant report

Variant	esv1216158
Chromosome Location	chr15:83424315-83424316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83422950..83425938-chr15:83474104..83476004,2	K562	blood:
2	chr15:83423255..83426158-chr15:83477607..83479598,3	MCF-7	breast:
3	chr15:83417813..83422044-chr15:83423321..83428058,7	MCF-7	breast:
4	chr15:83377728..83380235-chr15:83424270..83425985,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WHAMM-2	chr15:83421636-83425960	ENSG00000252690.2

Variant related genes	Relation type
ENSG00000103723	chromatin interactions
ENSG00000250988	chromatin interactions
ENSG00000252690	chromatin interactions
ENSG00000186628	chromatin interactions
ENSG00000156232	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71455422	chr15:83424315-83424316	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83420000-83426600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:83420200-83427000	Weak transcription	Gastric	stomach
3	chr15:83420200-83433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:83420400-83424400	Weak transcription	Fetal Heart	heart
5	chr15:83420400-83427000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:83420400-83427000	Weak transcription	Esophagus	oesophagus
7	chr15:83420400-83436400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:83420600-83426400	Weak transcription	Thymus	Thymus
9	chr15:83420600-83429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:83420800-83427000	Weak transcription	Aorta	Aorta
11	chr15:83420800-83427000	Weak transcription	Right Ventricle	heart
12	chr15:83420800-83431400	Weak transcription	Stomach Mucosa	stomach
13	chr15:83421000-83428000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:83421000-83428200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:83421000-83428400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:83421000-83428400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:83421000-83428600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:83421000-83429400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:83421200-83424600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr15:83421200-83425200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr15:83421200-83426000	Strong transcription	K562	blood
22	chr15:83421200-83426600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:83421200-83428200	Strong transcription	Fetal Thymus	thymus
24	chr15:83421200-83430000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr15:83421200-83431200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:83421200-83431200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:83421200-83431600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr15:83421200-83432000	Strong transcription	A549	lung
29	chr15:83421400-83426600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:83421400-83427000	Weak transcription	Pancreas	Pancrea
31	chr15:83421400-83428200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:83421400-83428200	Strong transcription	HUVEC	blood vessel
33	chr15:83421400-83428400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:83421400-83431400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:83421400-83431600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:83421600-83428200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:83421600-83431200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:83421600-83431600	Strong transcription	Adipose Nuclei	Adipose
39	chr15:83421600-83432800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:83421800-83425400	Strong transcription	Brain Germinal Matrix	brain
41	chr15:83421800-83427600	Strong transcription	Fetal Muscle Leg	muscle
42	chr15:83422000-83427000	Weak transcription	Fetal Intestine Small	intestine
43	chr15:83422000-83428200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:83422000-83430600	Weak transcription	Small Intestine	intestine
45	chr15:83422000-83431400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr15:83422000-83431600	Strong transcription	Liver	Liver
47	chr15:83422200-83426200	Weak transcription	Fetal Stomach	stomach
48	chr15:83422200-83429800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr15:83422200-83431200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:83422200-83431600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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