Variant report

Variant	esv3423036
Chromosome Location	chr2:11678686-11679042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11678361..11681033-chr2:11884649..11887386,2	MCF-7	breast:
2	chr2:11482684..11486384-chr2:11678704..11682899,6	MCF-7	breast:
3	chr10:123871436..123873974-chr2:11678144..11680211,2	MCF-7	breast:
4	chr2:11678223..11684922-chr2:11747400..11752385,8	MCF-7	breast:
5	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138162	chromatin interactions
ENSG00000134324	chromatin interactions
ENSG00000134318	chromatin interactions
ENSG00000145063	chromatin interactions
ENSG00000230790	chromatin interactions
ENSG00000265583	chromatin interactions
ENSG00000150873	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377566632	chr2:11678728-11678729	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs184441482	chr2:11678735-11678736	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs190171019	chr2:11678739-11678740	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs182352214	chr2:11678743-11678744	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs187214727	chr2:11678746-11678747	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs62118293	chr2:11678756-11678757	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62118294	chr2:11678760-11678761	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11684389	chr2:11678764-11678765	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs201058893	chr2:11678768-11678769	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs375468402	chr2:11678791-11678792	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs541960603	chr2:11678800-11678801	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs66497558	chr2:11678804-11678805	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs185333722	chr2:11678808-11678809	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs62910060	chr2:11678812-11678813	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs142034631	chr2:11678822-11678823	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs11685589	chr2:11678868-11678869	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs386643217	chr2:11678873-11678874	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs182635319	chr2:11678874-11678875	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs386643218	chr2:11678884-11678885	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs374728255	chr2:11678885-11678886	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs369515124	chr2:11678886-11678887	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs367811968	chr2:11678888-11678889	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs201631045	chr2:11678892-11678893	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs377312675	chr2:11678893-11678894	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs371503302	chr2:11678894-11678895	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs386643221	chr2:11678895-11678896	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs371747458	chr2:11678896-11678897	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs374645842	chr2:11678897-11678898	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs201969284	chr2:11678902-11678903	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs201303197	chr2:11678903-11678904	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs201576796	chr2:11678904-11678905	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs369751898	chr2:11678914-11678915	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs372229850	chr2:11678921-11678922	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs199574019	chr2:11678922-11678923	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs573960126	chr2:11678923-11678924	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs561361897	chr2:11678927-11678928	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs113837423	chr2:11678930-11678931	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs553297110	chr2:11678982-11678983	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs577906276	chr2:11679019-11679020	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs139061496	chr2:11679021-11679022	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs369220522	chr2:11679022-11679023	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs150855131	chr2:11679037-11679038	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11671200-11679600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:11671400-11679200	Weak transcription	Right Atrium	heart
3	chr2:11672400-11679400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:11672400-11679800	Enhancers	Pancreas	Pancrea
5	chr2:11672800-11679400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:11673000-11679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11673600-11679400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:11673600-11679400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:11673600-11679400	Enhancers	Ovary	ovary
10	chr2:11674000-11679400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:11674400-11679200	Weak transcription	Liver	Liver
12	chr2:11674400-11679200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:11674600-11679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11675400-11679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:11675400-11679600	Weak transcription	Fetal Heart	heart
16	chr2:11676400-11679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:11676400-11679200	Weak transcription	Left Ventricle	heart
18	chr2:11676400-11679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:11676400-11679600	Weak transcription	Psoas Muscle	Psoas
20	chr2:11676400-11681800	Weak transcription	Gastric	stomach
21	chr2:11676800-11679400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:11677600-11679200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:11678000-11683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:11678200-11680000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:11678200-11681000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:11678400-11678800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:11678400-11679200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:11678400-11679200	Enhancers	HepG2	liver
29	chr2:11678400-11679400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:11678400-11679400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:11678400-11679400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
33	chr2:11678600-11679000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:11678600-11679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:11678600-11679000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:11678600-11679200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:11678600-11679600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:11678800-11679200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:11679000-11680600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:11679000-11683200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:11679000-11683400	Enhancers	H1 Cell Line	embryonic stem cell

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