Variant report

Variant	esv1849765
Chromosome Location	chr2:7244036-7267069
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:7251016..7253656-chr2:7259409..7261988,2	K562	blood:
2	chr2:7242300..7245803-chr2:7246582..7248917,3	K562	blood:
3	chr2:7242154..7244370-chr2:7246741..7248590,2	MCF-7	breast:
4	chr2:7177874..7178822-chr2:7251603..7252183,2	MCF-7	breast:
5	chr2:7249175..7252051-chr2:7257461..7260179,2	K562	blood:
6	chr2:7257495..7259463-chr2:8821370..8822878,2	MCF-7	breast:
7	chr2:7242300..7245803-chr2:7246582..7248917,3	K562	blood:
8	chr2:7258914..7259740-chr2:8901523..8902402,2	MCF-7	breast:
9	chr2:7266262..7268880-chr2:7270585..7272111,2	K562	blood:
10	chr2:7236959..7238040-chr2:7251483..7252448,5	MCF-7	breast:
11	chr2:7259314..7259830-chr2:7811947..7812460,2	K562	blood:
12	chr2:7248479..7250101-chr2:7259686..7262238,2	MCF-7	breast:
13	chr2:7251016..7253656-chr2:7259409..7261988,2	K562	blood:
14	chr2:7249175..7252051-chr2:7257461..7260179,2	K562	blood:
15	chr2:7248479..7250101-chr2:7259686..7262238,2	MCF-7	breast:
16	chr2:7256324..7259010-chr2:7951318..7952975,2	MCF-7	breast:
17	chr2:7242154..7244370-chr2:7246741..7248590,2	MCF-7	breast:
18	chr2:7237529..7239877-chr2:7241428..7244558,3	K562	blood:
19	chr2:7259346..7259908-chr2:8825781..8826500,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230515	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000115738	chromatin interactions

Extended variants
information (count: 964 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6722663	chr2:7244036-7244037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6722675	chr2:7244070-7244071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538227598	chr2:7244090-7244091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558601571	chr2:7244128-7244129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572127017	chr2:7244141-7244142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541128805	chr2:7244182-7244183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150616120	chr2:7244301-7244302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4668521	chr2:7244329-7244330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs543638540	chr2:7244350-7244351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139671499	chr2:7244355-7244356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560612245	chr2:7244356-7244357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74418323	chr2:7244403-7244404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557631229	chr2:7244449-7244450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564946714	chr2:7244462-7244463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527734451	chr2:7244482-7244483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547484692	chr2:7244503-7244504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567453797	chr2:7244610-7244611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75893493	chr2:7244620-7244621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550370174	chr2:7244624-7244625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570218421	chr2:7244629-7244630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185034400	chr2:7244646-7244647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558539581	chr2:7244710-7244711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149750734	chr2:7244762-7244763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13432467	chr2:7244791-7244792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554690619	chr2:7244860-7244861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190255275	chr2:7244905-7244906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114937895	chr2:7244926-7244927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557137734	chr2:7244973-7244974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60071303	chr2:7244997-7244998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545696614	chr2:7245005-7245006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559269747	chr2:7245015-7245016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376336120	chr2:7245021-7245022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147438258	chr2:7245054-7245055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561017761	chr2:7245086-7245087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530226556	chr2:7245124-7245125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139748679	chr2:7245154-7245155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145266415	chr2:7245169-7245170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532641145	chr2:7245238-7245239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546142867	chr2:7245287-7245288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369961545	chr2:7245292-7245293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201358072	chr2:7245330-7245331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566409560	chr2:7245353-7245354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534580960	chr2:7245369-7245370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554628771	chr2:7245411-7245412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56168684	chr2:7245429-7245430	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537162629	chr2:7245456-7245457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556832854	chr2:7245487-7245488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576965075	chr2:7245560-7245561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112336555	chr2:7245564-7245565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181268741	chr2:7245611-7245612	Weak transcription Strong 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:79 , 50 per page) page: 1 2

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
48	chr2:7257200-7261200	Weak transcription	Dnd41	blood
49	chr2:7258200-7258600	Weak transcription	Fetal Brain Male	brain
50	chr2:7258600-7259800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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