Variant report

Variant	esv3393674
Chromosome Location	chr2:11470501-11471699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11470381..11472827-chr2:11486435..11488434,2	MCF-7	breast:
2	chr2:11294029..11296824-chr2:11471660..11473792,2	K562	blood:
3	chr2:11467535..11471011-chr2:11482918..11485202,3	MCF-7	breast:
4	chr2:11468962..11471644-chr2:11473176..11474699,2	MCF-7	breast:
5	chr2:11471245..11477004-chr2:11481417..11486329,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162976	chromatin interactions
ENSG00000134318	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547320822	chr2:11470512-11470513	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565534371	chr2:11470533-11470534	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78111655	chr2:11470539-11470540	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183901263	chr2:11470551-11470552	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569897133	chr2:11470559-11470560	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28441302	chr2:11470642-11470643	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555914411	chr2:11470664-11470665	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187191856	chr2:11470692-11470693	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72789546	chr2:11470709-11470710	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553380159	chr2:11470710-11470711	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577949951	chr2:11470716-11470717	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13014721	chr2:11470733-11470734	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs563611363	chr2:11470735-11470736	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575447444	chr2:11470752-11470753	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542770542	chr2:11470780-11470781	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138768756	chr2:11470795-11470796	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150856635	chr2:11470861-11470862	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148690962	chr2:11470866-11470867	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377400799	chr2:11470873-11470874	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192889140	chr2:11470878-11470879	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185329923	chr2:11470885-11470886	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190205726	chr2:11470896-11470897	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140021247	chr2:11470963-11470964	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182470342	chr2:11470988-11470989	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374724337	chr2:11471066-11471067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113113002	chr2:11471067-11471068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141197068	chr2:11471079-11471080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370879264	chr2:11471082-11471083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529029861	chr2:11471108-11471109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547164056	chr2:11471109-11471110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559331499	chr2:11471140-11471141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532939518	chr2:11471143-11471144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183655994	chr2:11471153-11471154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143741429	chr2:11471162-11471163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140676493	chr2:11471168-11471169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs376676251	chr2:11471169-11471170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188216076	chr2:11471171-11471172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs70953389	chr2:11471184-11471185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569933671	chr2:11471209-11471210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180959729	chr2:11471246-11471247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114554366	chr2:11471285-11471286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567347680	chr2:11471290-11471291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185689449	chr2:11471332-11471333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553176824	chr2:11471360-11471361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114972673	chr2:11471437-11471438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191581881	chr2:11471450-11471451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376065095	chr2:11471507-11471508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557240361	chr2:11471512-11471513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575484584	chr2:11471592-11471593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542909126	chr2:11471606-11471607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
4	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:11467400-11472600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:11467600-11471400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:11467600-11472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:11467800-11470800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:11467800-11470800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:11467800-11471400	Weak transcription	Right Ventricle	heart
13	chr2:11467800-11471400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:11467800-11473400	Weak transcription	Adipose Nuclei	Adipose
15	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
17	chr2:11468200-11470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
19	chr2:11469400-11470600	Enhancers	Osteobl	bone
20	chr2:11469400-11470800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:11469400-11470800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:11469400-11470800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:11469400-11471000	Enhancers	HSMM	muscle
24	chr2:11469600-11470600	Enhancers	Liver	Liver
25	chr2:11469600-11470600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:11469800-11470600	Enhancers	NHEK	skin
27	chr2:11469800-11470800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:11469800-11470800	Enhancers	Hela-S3	cervix
29	chr2:11470000-11470600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:11470000-11470800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:11470200-11470800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:11470200-11471600	Weak transcription	HepG2	liver
33	chr2:11470200-11473800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:11470400-11470800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:11470400-11470800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:11470400-11470800	Active TSS	Right Atrium	heart
37	chr2:11470400-11470800	Enhancers	K562	blood
38	chr2:11470400-11470800	Active TSS	NHDF-Ad	bronchial
39	chr2:11470400-11470800	Active TSS	NHLF	lung
40	chr2:11470400-11471000	Active TSS	Ovary	ovary
41	chr2:11470400-11472200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:11470400-11472400	Weak transcription	A549	lung
43	chr2:11470400-11472600	Weak transcription	Fetal Heart	heart
44	chr2:11470400-11479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:11470400-11481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:11470600-11470800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:11470600-11470800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:11470600-11471400	Weak transcription	Liver	Liver
49	chr2:11470600-11475200	Weak transcription	Osteobl	bone
50	chr2:11470800-11471000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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