Variant report

Variant	esv1827498
Chromosome Location	chr2:189851872-189855943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:189851459-189851983	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr2:189851428-189852217	SK-N-SH	brain:	n/a	chr2:189852094-189852104 chr2:189852132-189852146
3	EP300	chr2:189851374-189852017	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr2:189851355-189852201	SK-N-SH	brain:	n/a	chr2:189852094-189852104 chr2:189852132-189852146
5	EP300	chr2:189851242-189852553	SK-N-SH	brain:	n/a	chr2:189852094-189852104 chr2:189851297-189851307 chr2:189852132-189852146
6	FOSL2	chr2:189851384-189852062	SK-N-SH	brain:	n/a	n/a
7	FOXM1	chr2:189851509-189852080	SK-N-SH	brain:	n/a	n/a
8	GATA2	chr2:189851457-189851970	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr2:189851161-189852225	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr2:189851211-189852190	SK-N-SH	brain:	n/a	n/a
11	JUND	chr2:189851303-189852149	SK-N-SH	brain:	n/a	n/a
12	JUND	chr2:189851312-189852057	SK-N-SH	brain:	n/a	n/a
13	MYC	chr2:189855391-189855546	MCF10A-Er-Src	breast:	n/a	n/a
14	NFIC	chr2:189851265-189852183	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr2:189851361-189851928	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr2:189851308-189852067	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr2:189851381-189852023	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr2:189853267-189853503	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr2:189855286-189856046	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr2:189852874-189853178	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr2:189851401-189852024	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr2:189851257-189852047	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr2:189852095-189853543	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr2:189854280-189855236	SK-N-SH	brain:	n/a	n/a
25	RAD21	chr2:189851655-189851931	SK-N-SH_RA	brain:	n/a	n/a
26	RAD21	chr2:189851553-189851925	SK-N-SH_RA	brain:	n/a	n/a
27	RXRA	chr2:189851384-189852081	SK-N-SH	brain:	n/a	n/a
28	SIN3AK20	chr2:189851576-189851964	SK-N-SH	brain:	n/a	n/a
29	STAT3	chr2:189855220-189855221	MCF10A-Er-Src	breast:	n/a	n/a
30	TAF1	chr2:189851722-189851898	SK-N-SH	brain:	n/a	n/a
31	TCF12	chr2:189851183-189852120	SK-N-SH	brain:	n/a	n/a
32	TCF12	chr2:189851385-189852059	SK-N-SH	brain:	n/a	n/a
33	TEAD4	chr2:189851352-189852066	SK-N-SH	brain:	n/a	n/a
34	TEAD4	chr2:189851377-189851980	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189849262..189851265-chr2:189851542..189854419,2	MCF-7	breast:

Variant related genes	Relation type
COL3A1	TF binding region

Extended variants
information (count: 204 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16830979	chr2:189851887-189851888	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369476950	chr2:189851902-189851903	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562053617	chr2:189851905-189851906	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs367704099	chr2:189851910-189851911	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561435412	chr2:189851934-189851935	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569104099	chr2:189852081-189852082	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529402585	chr2:189852088-189852089	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200811296	chr2:189852092-189852093	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199970446	chr2:189852093-189852094	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563391782	chr2:189852111-189852112	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568826862	chr2:189852114-189852115	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7576108	chr2:189852115-189852116	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190640343	chr2:189852116-189852117	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138751203	chr2:189852162-189852163	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533776418	chr2:189852172-189852173	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111266246	chr2:189852187-189852188	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567587574	chr2:189852188-189852189	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537609694	chr2:189852209-189852210	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs140356458	chr2:189852219-189852220	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561427984	chr2:189852260-189852261	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575627080	chr2:189852286-189852287	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546326369	chr2:189852287-189852288	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117310680	chr2:189852289-189852290	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528656117	chr2:189852310-189852311	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs368613380	chr2:189852321-189852322	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs78352804	chr2:189852396-189852397	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540236703	chr2:189852420-189852421	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs562018848	chr2:189852430-189852431	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs529609651	chr2:189852442-189852443	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs544465847	chr2:189852449-189852450	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563142694	chr2:189852461-189852462	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116057341	chr2:189852464-189852465	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546892229	chr2:189852489-189852490	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs566572718	chr2:189852497-189852498	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs527250144	chr2:189852524-189852525	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs565752172	chr2:189852540-189852541	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs539567937	chr2:189852591-189852592	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs549015130	chr2:189852598-189852599	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567549852	chr2:189852603-189852604	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372403022	chr2:189852644-189852645	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538167794	chr2:189852653-189852654	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs556082487	chr2:189852659-189852660	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs376948987	chr2:189852662-189852663	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs551390100	chr2:189852672-189852673	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571461900	chr2:189852685-189852686	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538464745	chr2:189852722-189852723	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113768611	chr2:189852725-189852726	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs187093110	chr2:189852727-189852728	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573025549	chr2:189852781-189852782	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs41272797	chr2:189852809-189852810	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189839400-189858000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189841400-189864000	Weak transcription	Left Ventricle	heart
3	chr2:189841800-189875200	Weak transcription	Colonic Mucosa	Colon
4	chr2:189842400-189866600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:189843400-189861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:189843600-189874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:189844400-189866200	Weak transcription	Psoas Muscle	Psoas
8	chr2:189844600-189859000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:189844800-189857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:189847600-189879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:189847800-189858600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:189848200-189858000	Weak transcription	Aorta	Aorta
13	chr2:189849200-189852000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:189849400-189852000	Genic enhancers	Adipose Nuclei	Adipose
15	chr2:189849400-189852200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:189849400-189877600	Strong transcription	Placenta	Placenta
17	chr2:189849600-189876200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr2:189849800-189852200	Genic enhancers	Muscle Satellite Cultured Cells	--
19	chr2:189849800-189853600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:189849800-189856200	Weak transcription	Fetal Stomach	stomach
21	chr2:189849800-189856400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:189849800-189871000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:189850000-189854200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:189850000-189854400	Weak transcription	NH-A	brain
25	chr2:189850000-189865000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:189850200-189853000	Strong transcription	NHLF	lung
27	chr2:189850400-189853400	Strong transcription	Ovary	ovary
28	chr2:189850400-189877200	Weak transcription	Right Ventricle	heart
29	chr2:189850600-189852200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:189851000-189853400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:189851600-189852000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:189851600-189852000	Genic enhancers	Fetal Lung	lung
33	chr2:189851600-189852600	Genic enhancers	Rectal Smooth Muscle	rectum
34	chr2:189851800-189852000	Strong transcription	Fetal Kidney	kidney
35	chr2:189851800-189852400	Weak transcription	HSMMtube	muscle
36	chr2:189851800-189852800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:189851800-189859000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:189851800-189862200	Strong transcription	Osteobl	bone
39	chr2:189851800-189863400	Strong transcription	NHDF-Ad	bronchial
40	chr2:189851800-189863800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr2:189851800-189877200	Strong transcription	Colon Smooth Muscle	Colon
42	chr2:189851800-189878000	Strong transcription	HSMM	muscle
43	chr2:189852000-189853400	Strong transcription	Fetal Lung	lung
44	chr2:189852000-189856800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:189852000-189856800	Weak transcription	Fetal Kidney	kidney
46	chr2:189852000-189862000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:189852000-189877400	Strong transcription	Adipose Nuclei	Adipose
48	chr2:189852200-189852800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:189852200-189858800	Strong transcription	Fetal Muscle Leg	muscle
50	chr2:189852200-189865800	Strong transcription	Muscle Satellite Cultured Cells	--

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