Variant report

Variant	nsv975224
Chromosome Location	chr11:104941023-104949677
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	BATF	chr11:104948119-104948459	GM12878	blood:	n/a	chr11:104948321-104948332
2	CEBPB	chr11:104948635-104948827	HepG2	liver:	n/a	chr11:104948658-104948669
3	CTCF	chr11:104948711-104948822	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr11:104945420-104945570	BE2_C	brain:	n/a	n/a
5	CTCF	chr11:104945360-104945510	AG09309	skin:	n/a	n/a
6	CTCF	chr11:104941845-104941925	Lung_OC	lung:	n/a	n/a
7	CTCF	chr11:104943363-104943427	GM13976	blood:	n/a	n/a
8	CTCF	chr11:104945394-104945576	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F4	chr11:104945873-104946021	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr11:104946814-104946837	GM12878	blood:	n/a	chr11:104946815-104946826
11	FOS	chr11:104941168-104941469	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
12	FOS	chr11:104948211-104948907	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:104942187-104942387	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:104944266-104944785	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr11:104942242-104942452	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:104948241-104948837	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:104948262-104948729	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:104948928-104949030	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:104941176-104941474	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
20	FOS	chr11:104941207-104941399	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
21	FOS	chr11:104942222-104942367	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:104941274-104941386	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
23	JUN	chr11:104945011-104945062	K562	blood:	n/a	n/a
24	MAFF	chr11:104941396-104941578	HepG2	liver:	n/a	chr11:104941492-104941510
25	MAFF	chr11:104947432-104947580	HepG2	liver:	n/a	n/a
26	MAFK	chr11:104947352-104947628	HepG2	liver:	n/a	n/a
27	MAFK	chr11:104947451-104947500	HepG2	liver:	n/a	n/a
28	MYC	chr11:104942084-104942475	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr11:104948580-104948902	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr11:104948687-104948837	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr11:104942094-104942573	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:104948645-104948863	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:104946010-104946015	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:104944737-104944855	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:104942006-104942470	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:104949545-104949721	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:104946338-104946365	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:104941419-104941619	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:104941990-104942437	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:104945881-104945963	GM12878	blood:	n/a	n/a
41	RAD21	chr11:104945332-104945573	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr11:104945406-104945623	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr11:104945370-104945739	H1-hESC	embryonic stem cell:	n/a	n/a
44	STAT3	chr11:104942173-104942368	MCF10A-Er-Src	breast:	n/a	chr11:104942263-104942274
45	STAT3	chr11:104942305-104942368	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr11:104948624-104948796	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:104948205-104948399	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr11:104941458-104941474	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr11:104948292-104948852	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr11:104948702-104948718	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CASP1P2	TF binding region

Extended variants
information (count: 418 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192421046	chr11:104941023-104941024	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs509287	chr11:104941024-104941025	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3016801	chr11:104941034-104941035	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527668087	chr11:104941039-104941040	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375308741	chr11:104941043-104941044	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547419284	chr11:104941044-104941045	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570713775	chr11:104941047-104941048	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548874490	chr11:104941074-104941075	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539311900	chr11:104941082-104941083	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556325138	chr11:104941091-104941092	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569484781	chr11:104941102-104941103	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528962	chr11:104941103-104941104	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555029508	chr11:104941104-104941105	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3016802	chr11:104941123-104941124	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs508337	chr11:104941140-104941141	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs1785876	chr11:104941184-104941185	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs577468197	chr11:104941190-104941191	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546150612	chr11:104941199-104941200	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563110388	chr11:104941202-104941203	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs115213799	chr11:104941218-104941219	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs115063948	chr11:104941219-104941220	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530009	chr11:104941257-104941258	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562163038	chr11:104941301-104941302	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527729725	chr11:104941309-104941310	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs386757113	chr11:104941361-104941362	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs188502154	chr11:104941362-104941363	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533281369	chr11:104941375-104941376	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549774523	chr11:104941376-104941377	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148424066	chr11:104941395-104941396	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535250802	chr11:104941396-104941397	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs555083760	chr11:104941397-104941398	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565446880	chr11:104941398-104941399	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534373077	chr11:104941404-104941405	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557755831	chr11:104941405-104941406	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577529695	chr11:104941407-104941408	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79888734	chr11:104941409-104941410	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375042745	chr11:104941416-104941417	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs556555521	chr11:104941418-104941419	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111910511	chr11:104941423-104941424	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576753993	chr11:104941429-104941430	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs542436027	chr11:104941437-104941438	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562226072	chr11:104941438-104941439	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572577820	chr11:104941441-104941442	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541140134	chr11:104941444-104941445	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs142549706	chr11:104941452-104941453	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533158981	chr11:104941455-104941456	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550078459	chr11:104941472-104941473	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563239452	chr11:104941480-104941481	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs116871092	chr11:104941482-104941483	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112950192	chr11:104941486-104941487	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Renal cell carcinoma	18194544	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
low-grade B-cell lymphoma tumor	18367492	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
Melanoma	17363583	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
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104935200-104941200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:104938200-104941800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:104940200-104941400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr11:104940200-104942400	Active TSS	Primary T cells fromperipheralblood	blood
5	chr11:104940600-104941400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr11:104940600-104941400	Enhancers	Dnd41	blood
7	chr11:104940800-104941200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr11:104940800-104941400	Enhancers	NHEK	skin
9	chr11:104940800-104941600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr11:104940800-104943200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:104941000-104941200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr11:104941000-104941400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:104941000-104941400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:104941000-104941400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr11:104941000-104941600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:104941000-104941800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:104941000-104942000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:104941000-104942200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:104941000-104942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:104941000-104942600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:104941000-104942600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:104941200-104941400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:104941200-104941600	Active TSS	Duodenum Mucosa	Duodenum
24	chr11:104941200-104942000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:104941200-104942200	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:104941200-104942400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:104941200-104942400	Enhancers	Placenta	Placenta
28	chr11:104941400-104941600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:104941400-104942000	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:104941400-104942200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:104941400-104942400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr11:104941400-104942400	Flanking Active TSS	NHEK	skin
33	chr11:104941400-104942600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:104941400-104942600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:104941600-104941800	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:104941600-104941800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr11:104941600-104941800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr11:104941600-104942200	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:104941600-104942400	Enhancers	HMEC	breast
40	chr11:104941800-104942000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:104941800-104942000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr11:104941800-104942000	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:104941800-104942200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:104941800-104942200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:104941800-104942200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:104942000-104942200	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr11:104942000-104942200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr11:104942000-104942200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:104942000-104942400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:104942000-104942400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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