Variant report

Variant	esv1843872
Chromosome Location	chr2:7242128-7256644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:7248479..7250101-chr2:7259686..7262238,2	MCF-7	breast:
2	chr2:7242300..7245803-chr2:7246582..7248917,3	K562	blood:
3	chr2:7242300..7245803-chr2:7246582..7248917,3	K562	blood:
4	chr2:7242154..7244370-chr2:7246741..7248590,2	MCF-7	breast:
5	chr2:7177874..7178822-chr2:7251603..7252183,2	MCF-7	breast:
6	chr2:7249175..7252051-chr2:7257461..7260179,2	K562	blood:
7	chr2:7242154..7244370-chr2:7246741..7248590,2	MCF-7	breast:
8	chr2:7256324..7259010-chr2:7951318..7952975,2	MCF-7	breast:
9	chr2:7237529..7239877-chr2:7241428..7244558,3	K562	blood:
10	chr2:7236959..7238040-chr2:7251483..7252448,5	MCF-7	breast:
11	chr2:7251016..7253656-chr2:7259409..7261988,2	K562	blood:

No data

Extended variants
information (count: 578 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7585673	chr2:7242128-7242129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145211862	chr2:7242169-7242170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542252679	chr2:7242177-7242178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562584457	chr2:7242180-7242181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531327748	chr2:7242213-7242214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551519941	chr2:7242275-7242276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367730883	chr2:7242306-7242307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs33973667	chr2:7242329-7242330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147597570	chr2:7242425-7242426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140772349	chr2:7242458-7242459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567599943	chr2:7242459-7242460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370364815	chr2:7242462-7242463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150099556	chr2:7242468-7242469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555496840	chr2:7242469-7242470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112033994	chr2:7242501-7242502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187580034	chr2:7242508-7242509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537960884	chr2:7242527-7242528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138354669	chr2:7242563-7242564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578109745	chr2:7242592-7242593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191577258	chr2:7242601-7242602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374086839	chr2:7242608-7242609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149220390	chr2:7242615-7242616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531801621	chr2:7242628-7242629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574026018	chr2:7242632-7242633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184848089	chr2:7242662-7242663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562360936	chr2:7242769-7242770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11692552	chr2:7242794-7242795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6712003	chr2:7242813-7242814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs565030245	chr2:7242847-7242848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373932662	chr2:7242877-7242878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535985278	chr2:7242883-7242884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527466702	chr2:7242895-7242896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553020415	chr2:7242915-7242916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79444999	chr2:7242916-7242917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530029062	chr2:7242956-7242957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549315413	chr2:7242961-7242962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187999292	chr2:7243021-7243022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77251691	chr2:7243027-7243028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566374527	chr2:7243034-7243035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557962111	chr2:7243074-7243075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571442764	chr2:7243081-7243082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115458721	chr2:7243084-7243085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143377100	chr2:7243091-7243092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573961296	chr2:7243105-7243106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542961695	chr2:7243115-7243116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556079360	chr2:7243116-7243117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571602815	chr2:7243120-7243121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545021875	chr2:7243179-7243180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539627335	chr2:7243188-7243189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142177127	chr2:7243192-7243193	Weak transcription	n/a	n/a	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
low-grade B-cell lymphoma tumor	18367492	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Acute myeloid leukemia	20729466	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
Neuroblastoma	18923524	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7234800-7249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:7237800-7249400	Weak transcription	Fetal Kidney	kidney
3	chr2:7238000-7245200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:7238000-7245200	Weak transcription	Dnd41	blood
5	chr2:7238000-7246800	Weak transcription	Thymus	Thymus
6	chr2:7238000-7249400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:7238000-7252000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:7238000-7259000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:7238000-7259600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:7238000-7260400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:7238200-7249600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:7238200-7258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:7245200-7245600	Strong transcription	Dnd41	blood
14	chr2:7245200-7246600	Strong transcription	Primary T cells from cord blood	blood
15	chr2:7245600-7253400	Weak transcription	Dnd41	blood
16	chr2:7246600-7266400	Weak transcription	Primary T cells from cord blood	blood
17	chr2:7246800-7247000	Enhancers	Thymus	Thymus
18	chr2:7249400-7249800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:7249400-7249800	Enhancers	Fetal Brain Female	brain
20	chr2:7249400-7250000	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:7249400-7250000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:7249400-7250000	Enhancers	Fetal Brain Male	brain
23	chr2:7249400-7250400	Enhancers	Fetal Kidney	kidney
24	chr2:7249600-7250000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:7249600-7250200	Enhancers	Fetal Muscle Leg	muscle
26	chr2:7249600-7250800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:7249800-7250200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:7249800-7250400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:7249800-7250400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:7249800-7250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:7249800-7255200	Weak transcription	Fetal Brain Female	brain
32	chr2:7250000-7250600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:7250000-7251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:7250000-7255000	Weak transcription	Fetal Brain Male	brain
35	chr2:7250200-7250600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:7250200-7250600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:7250400-7259600	Weak transcription	Fetal Kidney	kidney
38	chr2:7250800-7252000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:7251600-7252200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:7251600-7252200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:7251800-7252200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:7251800-7252200	Enhancers	Esophagus	oesophagus
43	chr2:7252000-7252200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:7252000-7252200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:7252000-7252400	Enhancers	HMEC	breast
46	chr2:7255000-7258200	Enhancers	Fetal Brain Male	brain
47	chr2:7255200-7260400	Enhancers	Fetal Brain Female	brain

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