Variant report

Variant	esv3386145
Chromosome Location	chr2:113584752-113585197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113521068..113523888-chr2:113582912..113585483,2	K562	blood:
2	chr2:113582868..113585453-chr2:113586794..113589453,2	K562	blood:
3	chr2:113583953..113585780-chr2:113586794..113589509,2	K562	blood:
4	chr2:113585135..113587533-chr2:113609223..113612199,2	K562	blood:
5	chr2:113511478..113514067-chr2:113582804..113585326,2	K562	blood:

Variant related genes	Relation type
ENSG00000180152	chromatin interactions
ENSG00000169607	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3181067	chr2:113584757-113584758	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555003989	chr2:113584782-113584783	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574771900	chr2:113584789-113584790	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533957903	chr2:113584812-113584813	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551270723	chr2:113584816-113584817	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376249763	chr2:113584894-113584895	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369126067	chr2:113584898-113584899	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371536147	chr2:113584909-113584910	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72825542	chr2:113584953-113584954	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374210566	chr2:113584978-113584979	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149998654	chr2:113585024-113585025	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12992780	chr2:113585050-113585051	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62157448	chr2:113585057-113585058	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567335790	chr2:113585062-113585063	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4848305	chr2:113585147-113585148	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556267581	chr2:113585148-113585149	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201128286	chr2:113585186-113585187	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs202014622	chr2:113585187-113585188	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113580000-113586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:113582200-113588800	Weak transcription	Lung	lung
3	chr2:113582400-113586400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:113582400-113592000	Weak transcription	NH-A	brain
5	chr2:113582800-113587000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:113582800-113589400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:113583000-113585400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:113583000-113585400	Weak transcription	Pancreas	Pancrea
9	chr2:113583000-113587000	Weak transcription	NHEK	skin
10	chr2:113583000-113587200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113583000-113592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:113583600-113585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:113583600-113587200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:113583600-113587200	Weak transcription	HMEC	breast
15	chr2:113583600-113591200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:113583600-113592000	Weak transcription	Osteobl	bone
17	chr2:113584600-113585200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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