Variant report

Variant	esv3328249
Chromosome Location	chr2:86502516-86502693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191214656	chr2:86502525-86502526	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs62147604	chr2:86502588-86502589	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11687392	chr2:86502663-86502664	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs567091358	chr2:86502683-86502684	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183721421	chr2:86502690-86502691	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86499000-86510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:86499200-86503000	Weak transcription	Fetal Stomach	stomach
3	chr2:86499200-86503200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:86499200-86509600	Weak transcription	Aorta	Aorta
5	chr2:86499800-86507200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:86500000-86507400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:86500200-86506800	Weak transcription	Fetal Brain Male	brain
9	chr2:86500400-86504000	Strong transcription	Fetal Brain Female	brain
10	chr2:86500800-86503600	Enhancers	GM12878-XiMat	blood
11	chr2:86501200-86502600	Enhancers	HSMMtube	muscle
12	chr2:86501200-86502800	Enhancers	Fetal Muscle Leg	muscle
13	chr2:86501200-86502800	Enhancers	Small Intestine	intestine
14	chr2:86501200-86502800	Enhancers	HSMM	muscle
15	chr2:86501200-86503600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:86501200-86503800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:86501200-86503800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:86501200-86504000	Enhancers	Fetal Intestine Large	intestine
19	chr2:86501200-86504000	Enhancers	Psoas Muscle	Psoas
20	chr2:86501400-86502600	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:86501400-86502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:86501400-86502800	Enhancers	Colon Smooth Muscle	Colon
23	chr2:86501400-86502800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:86501400-86502800	Enhancers	Hela-S3	cervix
25	chr2:86501400-86503000	Enhancers	Fetal Intestine Small	intestine
26	chr2:86501400-86503200	Enhancers	Stomach Mucosa	stomach
27	chr2:86501400-86503600	Enhancers	Right Ventricle	heart
28	chr2:86501600-86502600	Enhancers	Fetal Heart	heart
29	chr2:86501800-86502600	Enhancers	HepG2	liver
30	chr2:86501800-86503400	Enhancers	Colonic Mucosa	Colon
31	chr2:86501800-86503400	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:86501800-86503400	Enhancers	Gastric	stomach
33	chr2:86501800-86503400	Enhancers	Left Ventricle	heart
34	chr2:86502000-86502600	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:86502000-86502800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:86502000-86502800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:86502000-86502800	Enhancers	Pancreas	Pancrea
38	chr2:86502000-86503000	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:86502000-86503000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:86502000-86503200	Enhancers	Esophagus	oesophagus
41	chr2:86502000-86505800	Weak transcription	Right Atrium	heart
42	chr2:86502200-86502600	Genic enhancers	Brain Germinal Matrix	brain
43	chr2:86502200-86502600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr2:86502200-86502800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:86502200-86506800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:86502200-86507000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:86502400-86502800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:86502400-86507000	Weak transcription	Brain Anterior Caudate	brain
49	chr2:86502400-86507000	Weak transcription	Fetal Lung	lung
50	chr2:86502600-86502800	Genic enhancers	HSMMtube	muscle

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