Variant report

Variant	esv3426347
Chromosome Location	chr2:184009910-184010494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184001895..184006122-chr2:184006438..184011885,6	K562	blood:
2	chr2:184008752..184011382-chr2:184012317..184013818,2	K562	blood:
3	chr2:184006368..184007873-chr2:184008611..184010923,2	MCF-7	breast:
4	chr2:184007568..184011382-chr2:184012317..184014101,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140293834	chr2:184009923-184009924	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536334882	chr2:184009944-184009945	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560667189	chr2:184009968-184009969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2675102	chr2:184009971-184009972	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531590578	chr2:184009991-184009992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145318771	chr2:184010005-184010006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77265592	chr2:184010024-184010025	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13023969	chr2:184010035-184010036	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547545182	chr2:184010051-184010052	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75994618	chr2:184010078-184010079	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78763160	chr2:184010089-184010090	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538586113	chr2:184010129-184010130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148001915	chr2:184010139-184010140	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569454157	chr2:184010251-184010252	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552103211	chr2:184010288-184010289	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538496486	chr2:184010295-184010296	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189967842	chr2:184010325-184010326	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574519455	chr2:184010335-184010336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571940629	chr2:184010401-184010402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534406054	chr2:184010412-184010413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531255161	chr2:184010431-184010432	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2248705	chr2:184010492-184010493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
3	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
4	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
5	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
8	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
9	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:183991000-184018400	Weak transcription	Gastric	stomach
13	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
14	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:183991200-184011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
20	chr2:183991400-184034000	Weak transcription	NHLF	lung
21	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
22	chr2:183991600-184014200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
25	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:183996000-184013400	Weak transcription	Ovary	ovary
27	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:183996400-184013600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:183996400-184013800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:183996400-184018400	Weak transcription	Lung	lung
31	chr2:183996400-184025800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:184001000-184015000	Weak transcription	HSMM	muscle
33	chr2:184002200-184017600	Weak transcription	Pancreas	Pancrea
34	chr2:184004800-184011400	Weak transcription	Fetal Stomach	stomach
35	chr2:184005000-184025200	Weak transcription	Left Ventricle	heart
36	chr2:184005600-184010200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:184006400-184012000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:184006400-184013400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:184006600-184013000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:184007600-184010200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr2:184007800-184016600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:184008000-184012200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr2:184008000-184013600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:184008400-184011600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:184009000-184010200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:184009000-184011000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:184009000-184011200	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:184009000-184011800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:184009000-184012200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:184009000-184013600	Weak transcription	Osteobl	bone

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