Variant report

Variant	esv3406442
Chromosome Location	chr2:172907706-172911904
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
2	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
3	chr2:172910103..172911798-chr2:172947544..172950259,2	MCF-7	breast:
4	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:
5	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
6	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:
7	chr2:172894190..172896473-chr2:172910929..172913288,2	K562	blood:
8	chr2:172805225..172806853-chr2:172911394..172913520,2	K562	blood:
9	chr2:172909513..172911907-chr2:172948039..172950967,2	MCF-7	breast:
10	chr2:172911399..172913242-chr2:172927772..172930159,2	K562	blood:
11	chr2:172910524..172912386-chr2:172915560..172917116,2	K562	blood:
12	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
13	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
14	chr2:172911212..172913559-chr2:172957702..172960003,2	MCF-7	breast:
15	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:
16	chr2:172906506..172908883-chr2:172947128..172949722,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144355	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201008651	chr2:172907707-172907708	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs56235685	chr2:172907708-172907709	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111491288	chr2:172907709-172907710	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60479543	chr2:172907710-172907711	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs587742160	chr2:172907714-172907715	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62183823	chr2:172907720-172907721	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540702456	chr2:172907724-172907725	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189404748	chr2:172907731-172907732	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145972030	chr2:172907734-172907735	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565149685	chr2:172907738-172907739	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202246130	chr2:172907742-172907743	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371690711	chr2:172907751-172907752	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs60231166	chr2:172907753-172907754	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570222126	chr2:172907762-172907763	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs80301786	chr2:172907774-172907775	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10572204	chr2:172907784-172907785	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569529252	chr2:172907793-172907794	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201513888	chr2:172907796-172907797	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199646261	chr2:172907801-172907802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148895312	chr2:172907830-172907831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377618328	chr2:172907833-172907834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372459633	chr2:172907834-172907835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530267434	chr2:172907844-172907845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs60898194	chr2:172907845-172907846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79817250	chr2:172907846-172907847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs202244822	chr2:172907847-172907848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200613075	chr2:172907848-172907849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181044973	chr2:172907856-172907857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534430690	chr2:172907936-172907937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201715708	chr2:172907949-172907950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570571360	chr2:172908009-172908010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113700420	chr2:172908059-172908060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113970182	chr2:172908067-172908068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200293565	chr2:172908101-172908102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553018554	chr2:172908119-172908120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs80021850	chr2:172908148-172908149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143510434	chr2:172908169-172908170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78692251	chr2:172908249-172908250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77714475	chr2:172908282-172908283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553101740	chr2:172908289-172908290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146761856	chr2:172908293-172908294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs59067642	chr2:172908331-172908332	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148893389	chr2:172908333-172908334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574603737	chr2:172908428-172908429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544416553	chr2:172908462-172908463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143450196	chr2:172908466-172908467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62183826	chr2:172908490-172908491	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561266970	chr2:172908526-172908527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368453886	chr2:172908553-172908554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544582677	chr2:172908615-172908616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172907400-172907800	ZNF genes & repeats	Fetal Kidney	kidney
2	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney
3	chr2:172910600-172911000	Enhancers	Primary T cells from cord blood	blood
4	chr2:172910600-172911000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:172910600-172911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:172910600-172911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:172910600-172911400	Enhancers	Dnd41	blood
8	chr2:172910800-172911200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:172910800-172911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:172910800-172911200	Enhancers	HSMM	muscle
11	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:172910800-172911400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:172910800-172911400	Enhancers	K562	blood
15	chr2:172911000-172912200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:172911000-172930000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:172911200-172912800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:172911200-172915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:172911200-172947200	Weak transcription	HSMM	muscle
20	chr2:172911400-172911800	Weak transcription	K562	blood
21	chr2:172911400-172914400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:172911400-172915200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:172911400-172916400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:172911400-172916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:172911400-172916800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:172911600-172912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:172911600-172913400	Enhancers	HepG2	liver
28	chr2:172911800-172913400	Enhancers	K562	blood

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