Variant report

Variant	esv3431700
Chromosome Location	chr11:107041392-107044040
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	FOS	chr11:107043766-107044068	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:107043758-107044052	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:107043833-107043986	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:107043741-107044075	MCF10A-Er-Src	breast:	n/a	chr11:107044058-107044072
5	STAT3	chr11:107043582-107043782	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr11:107043220-107043392	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr11:107043850-107044040	MCF10A-Er-Src	breast:	n/a	n/a
8	TCF7L2	chr11:107043241-107043619	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000255353	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548961150	chr11:107041392-107041393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567193193	chr11:107041403-107041404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181250338	chr11:107041412-107041413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537933768	chr11:107041432-107041433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185888108	chr11:107041441-107041442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556015027	chr11:107041546-107041547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568819891	chr11:107041558-107041559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146263482	chr11:107041559-107041560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537860160	chr11:107041611-107041612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539192912	chr11:107041633-107041634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554407661	chr11:107041691-107041692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371662261	chr11:107041707-107041708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528884411	chr11:107041721-107041722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139191518	chr11:107041726-107041727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190558895	chr11:107041738-107041739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34377970	chr11:107041742-107041743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183583385	chr11:107041783-107041784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187252088	chr11:107041797-107041798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192042093	chr11:107041798-107041799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565005818	chr11:107041832-107041833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113233704	chr11:107041844-107041845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79100825	chr11:107041862-107041863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35382582	chr11:107041873-107041874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551187236	chr11:107041891-107041892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527576768	chr11:107041892-107041893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139758755	chr11:107041913-107041914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549045405	chr11:107041933-107041934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149964853	chr11:107041966-107041967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12275167	chr11:107042094-107042095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549810160	chr11:107042103-107042104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79988958	chr11:107042108-107042109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78791159	chr11:107042179-107042180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375951977	chr11:107042191-107042192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186614263	chr11:107042192-107042193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370023147	chr11:107042222-107042223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149043970	chr11:107042229-107042230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373345721	chr11:107042265-107042266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566708247	chr11:107042313-107042314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116424434	chr11:107042391-107042392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554935445	chr11:107042393-107042394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576688999	chr11:107042412-107042413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537011250	chr11:107042504-107042505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116828012	chr11:107042688-107042689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536168878	chr11:107042735-107042736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114702364	chr11:107042820-107042821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533889999	chr11:107042846-107042847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116597342	chr11:107042863-107042864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559902535	chr11:107042872-107042873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191458770	chr11:107042878-107042879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74366571	chr11:107042946-107042947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107039400-107043400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:107043200-107044600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:107043400-107043800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:107043400-107044000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:107043400-107044000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:107043400-107044000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:107043400-107044000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:107043400-107044200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:107043400-107044600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:107043600-107044000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr11:107043600-107044000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:107043600-107044000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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