Variant report

Variant	esv1083680
Chromosome Location	chr2:100897741-100897745
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	chr2:100895235..100899399-chr2:100936905..100939740,4	K562	blood:
2	chr2:100896929..100899724-chr2:100932462..100934829,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST10-2	chr2:100892673-100898479	NONHSAT072773

Variant related genes	Relation type
ENSG00000170500	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200286984	chr2:100897741-100897742	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs398060394	chr2:100897742-100897743	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs574704537	chr2:100897743-100897744	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100879400-100900200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:100880200-100898400	Weak transcription	A549	lung
3	chr2:100884200-100900200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100885600-100898200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:100887000-100900200	Weak transcription	Left Ventricle	heart
7	chr2:100887200-100898000	Weak transcription	Fetal Brain Female	brain
8	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:100888000-100898000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:100889400-100900200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:100889600-100898200	Weak transcription	Fetal Brain Male	brain
12	chr2:100889600-100898400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:100890600-100900200	Weak transcription	Right Ventricle	heart
14	chr2:100891400-100900000	Weak transcription	Aorta	Aorta
15	chr2:100891800-100900200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:100891800-100907600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:100892000-100898000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:100892000-100898600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:100892000-100902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:100892000-100904000	Weak transcription	Gastric	stomach
21	chr2:100892200-100898200	Weak transcription	Brain Germinal Matrix	brain
22	chr2:100892200-100900200	Weak transcription	Pancreas	Pancrea
23	chr2:100892200-100909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:100892400-100900600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:100894400-100900400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:100895600-100900200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:100896600-100898000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:100896600-100899000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:100896600-100900000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:100896600-100907000	Weak transcription	Spleen	Spleen
31	chr2:100896600-100907600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:100896800-100897800	Enhancers	K562	blood
33	chr2:100896800-100898200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:100896800-100898400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:100896800-100898800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:100897000-100898200	Weak transcription	Ovary	ovary
37	chr2:100897400-100897800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:100897400-100898000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:100897400-100898800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:100897400-100899000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:100897400-100899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:100897600-100897800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:100897600-100897800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:100897600-100897800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:100897600-100899000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:100897600-100899000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:100897600-100903600	Enhancers	Dnd41	blood

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