Variant report

Variant	esv3528441
Chromosome Location	chr10:27224050-27228175
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	CEBPB	chr10:27226988-27227113	A549	lung:	n/a	n/a
2	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
3	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
4	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
5	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
6	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
7	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
8	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
9	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
10	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
11	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
12	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
13	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr10:27225824-27225948	MCF-7	breast:	n/a	n/a
17	POLR2A	chr10:27225813-27225818	MCF-7	breast:	n/a	n/a
18	STAT3	chr10:27226975-27227232	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr10:27227594-27227794	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27228167..27230462-chr10:27233630..27235621,2	MCF-7	breast:

Variant related genes	Relation type
LINC00202-1	TF binding region

Extended variants
information (count: 274 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549983809	chr10:27224072-27224073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569769099	chr10:27224087-27224088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535515292	chr10:27224130-27224131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555506478	chr10:27224138-27224139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183784181	chr10:27224152-27224153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188127113	chr10:27224154-27224155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554147006	chr10:27224157-27224158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180849940	chr10:27224165-27224166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546193668	chr10:27224166-27224167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563070139	chr10:27224170-27224171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185736953	chr10:27224178-27224179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375847043	chr10:27224180-27224181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61848657	chr10:27224205-27224206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73596332	chr10:27224221-27224222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148335064	chr10:27224222-27224223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569243824	chr10:27224228-27224229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561883544	chr10:27224231-27224232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199718688	chr10:27224233-27224234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200355340	chr10:27224234-27224235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73596333	chr10:27224301-27224302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7902050	chr10:27224460-27224461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181851934	chr10:27224477-27224478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11015389	chr10:27224478-27224479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549831668	chr10:27224490-27224491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569786059	chr10:27224491-27224492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11015390	chr10:27224492-27224493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112468250	chr10:27224498-27224499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377751849	chr10:27224547-27224548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2448101	chr10:27224582-27224583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17530946	chr10:27224599-27224600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs386742194	chr10:27224602-27224603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17559620	chr10:27224604-27224605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145834080	chr10:27224618-27224619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111586203	chr10:27224626-27224627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113158912	chr10:27224627-27224628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576217809	chr10:27224748-27224749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185720025	chr10:27224757-27224758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7100739	chr10:27224761-27224762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572243251	chr10:27224796-27224797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12571754	chr10:27224806-27224807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs200411967	chr10:27224812-27224813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575033857	chr10:27224845-27224846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370748808	chr10:27224858-27224859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564479757	chr10:27224859-27224860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34681950	chr10:27224884-27224885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs573440715	chr10:27224885-27224886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543662941	chr10:27224889-27224890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2477268	chr10:27224891-27224892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140268328	chr10:27224892-27224893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549232178	chr10:27224901-27224902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27220600-27228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27220600-27234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:27220800-27225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:27220800-27235200	Weak transcription	Gastric	stomach
6	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
8	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
10	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
12	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
14	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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