Variant report

Variant	esv3430138
Chromosome Location	chr2:190309373-190309618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190307453..190310457-chr2:190438182..190441040,3	K562	blood:
2	chr2:190307972..190310457-chr2:190436965..190439682,2	K562	blood:
3	chr2:190308372..190310331-chr2:190535454..190537876,3	MCF-7	breast:
4	chr2:190308951..190311414-chr2:190525622..190528539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138381	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533126663	chr2:190309382-190309383	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192859834	chr2:190309395-190309396	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13032853	chr2:190309412-190309413	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535051827	chr2:190309416-190309417	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371213088	chr2:190309456-190309457	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546961321	chr2:190309463-190309464	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183673515	chr2:190309479-190309480	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143154087	chr2:190309503-190309504	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369288244	chr2:190309508-190309509	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552825312	chr2:190309536-190309537	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557327814	chr2:190309543-190309544	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575445349	chr2:190309564-190309565	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539625592	chr2:190309613-190309614	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190309600	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr2:190306800-190309800	Enhancers	Small Intestine	intestine
3	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
6	chr2:190307000-190309600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:190307000-190309800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:190307000-190317600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:190307200-190309400	Enhancers	Osteobl	bone
11	chr2:190307200-190309600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:190307200-190309800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:190307200-190312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:190307200-190313200	Weak transcription	Fetal Kidney	kidney
15	chr2:190307200-190313400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:190307400-190309400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:190307400-190309600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:190307400-190309600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:190307400-190309600	Flanking Active TSS	GM12878-XiMat	blood
20	chr2:190307400-190311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:190307400-190312200	Weak transcription	Placenta	Placenta
22	chr2:190307400-190312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:190307400-190312800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:190307400-190312800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:190307400-190313000	Weak transcription	HSMMtube	muscle
26	chr2:190307600-190309400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:190307600-190309400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:190307600-190309400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:190307600-190309600	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:190307600-190309800	Weak transcription	Fetal Intestine Large	intestine
31	chr2:190307600-190310000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:190307600-190311000	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:190307600-190311400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:190307600-190312200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:190307600-190312200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:190307600-190312600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:190307600-190312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:190307600-190312800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:190307600-190313000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:190307600-190313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:190307600-190314200	Weak transcription	Brain Germinal Matrix	brain
42	chr2:190307600-190314800	Weak transcription	Left Ventricle	heart
43	chr2:190307600-190314800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:190307600-190315000	Weak transcription	Gastric	stomach
45	chr2:190307600-190316200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:190307600-190316200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:190307600-190316400	Weak transcription	Colonic Mucosa	Colon
48	chr2:190307600-190317000	Weak transcription	Fetal Stomach	stomach
49	chr2:190307600-190317200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:190307600-190317400	Weak transcription	Lung	lung

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