Variant report

Variant	nsv975223
Chromosome Location	chr11:104904476-104905607
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	chr11:104905287-104906325	Hela-S3	cervix:	n/a	chr11:104905915-104905932 chr11:104905600-104905613 chr11:104905919-104905930
2	CEBPB	chr11:104905228-104906180	IMR90	lung:	n/a	chr11:104905915-104905932 chr11:104905600-104905613 chr11:104905919-104905930
3	CHD2	chr11:104904637-104904755	GM12878	blood:	n/a	n/a
4	CTCF	chr11:104905019-104905026	Fibrobl	skin:	n/a	n/a
5	CTCF	chr11:104905277-104905441	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr11:104904968-104905017	Fibrobl	skin:	n/a	n/a
7	EP300	chr11:104905472-104906162	Hela-S3	cervix:	n/a	chr11:104905633-104905647
8	EP300	chr11:104904660-104904681	GM12878	blood:	n/a	n/a
9	GTF2F1	chr11:104905601-104906124	Hela-S3	cervix:	n/a	n/a
10	MYC	chr11:104904651-104904680	NB4	blood:	n/a	n/a
11	POLR2A	chr11:104904887-104905211	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:104905540-104905620	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:104905518-104906052	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:104905605-104906063	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:104904498-104904818	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:104905497-104905989	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:104905374-104906718	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:104905605-104906164	HL-60	blood:	n/a	n/a
19	POU2F2	chr11:104905594-104906204	GM12878	blood:	n/a	chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905938-104905952 chr11:104905938-104905960 chr11:104905941-104905955
20	REST	chr11:104905440-104906126	HL-60	blood:	n/a	n/a
21	SPI1	chr11:104905500-104905715	GM12891	blood:	n/a	chr11:104905697-104905710
22	SPI1	chr11:104905374-104905745	GM12891	blood:	n/a	chr11:104905697-104905710
23	SPI1	chr11:104905408-104906113	HL-60	blood:	n/a	chr11:104905697-104905710
24	STAT3	chr11:104904835-104904984	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr11:104905455-104906118	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
26	STAT3	chr11:104905435-104905506	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr11:104905499-104906107	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARD16-1	chr11:104904935-104905085	NONHSAT023950

Variant related genes	Relation type
CASP1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575151605	chr11:104904520-104904521	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2282660	chr11:104904529-104904530	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544041126	chr11:104904549-104904550	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs185109840	chr11:104904565-104904566	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568910	chr11:104904570-104904571	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs113526545	chr11:104904583-104904584	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540309746	chr11:104904611-104904612	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375042748	chr11:104904615-104904616	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559960498	chr11:104904623-104904624	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532157122	chr11:104904639-104904640	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560913641	chr11:104904648-104904649	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551840769	chr11:104904659-104904660	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369414538	chr11:104904664-104904665	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs45481997	chr11:104904729-104904730	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187866796	chr11:104904742-104904743	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs193166845	chr11:104904776-104904777	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567843597	chr11:104904781-104904782	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536409928	chr11:104904788-104904789	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs547092954	chr11:104904799-104904800	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566804826	chr11:104904801-104904802	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs202143888	chr11:104904804-104904805	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs539030217	chr11:104904864-104904865	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558517105	chr11:104904888-104904889	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs538383743	chr11:104904889-104904890	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs144113721	chr11:104904913-104904914	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2253995	chr11:104904918-104904919	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs148187218	chr11:104904938-104904939	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs61738279	chr11:104904942-104904943	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs2509649	chr11:104904955-104904956	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs554380065	chr11:104904956-104904957	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs185047753	chr11:104904959-104904960	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs61738278	chr11:104904966-104904967	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs201809300	chr11:104904977-104904978	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs201137094	chr11:104904987-104904988	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs12289229	chr11:104905020-104905021	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs147322917	chr11:104905028-104905029	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs539595	chr11:104905047-104905048	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs143162890	chr11:104905053-104905054	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs150883720	chr11:104905069-104905070	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs62640913	chr11:104905076-104905077	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs201044584	chr11:104905093-104905094	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs61755275	chr11:104905100-104905101	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs1042743	chr11:104905165-104905166	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561394708	chr11:104905166-104905167	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3016805	chr11:104905174-104905175	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111937100	chr11:104905203-104905204	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2509650	chr11:104905208-104905209	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs369601363	chr11:104905218-104905219	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372339419	chr11:104905226-104905227	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377723132	chr11:104905228-104905229	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	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:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104894200-104905600	Weak transcription	Esophagus	oesophagus
2	chr11:104897800-104905600	Weak transcription	Ovary	ovary
3	chr11:104899200-104905400	Weak transcription	Aorta	Aorta
4	chr11:104899400-104905400	Weak transcription	Fetal Brain Male	brain
5	chr11:104899400-104905600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:104899600-104905200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:104899600-104909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:104899800-104905000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:104901600-104904600	Weak transcription	Placenta	Placenta
10	chr11:104901600-104905000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:104902000-104905400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:104902200-104906800	Weak transcription	Gastric	stomach
13	chr11:104903000-104906000	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr11:104903000-104906000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:104903200-104904600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:104903200-104904800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr11:104903200-104905000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr11:104903200-104906200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:104903200-104906200	Flanking Active TSS	Dnd41	blood
20	chr11:104903200-104906400	Active TSS	Rectal Smooth Muscle	rectum
21	chr11:104903400-104905200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr11:104903400-104905200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr11:104903400-104906000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:104903400-104906000	Active TSS	GM12878-XiMat	blood
25	chr11:104903400-104906200	Active TSS	Primary T cells fromperipheralblood	blood
26	chr11:104903400-104906400	Active TSS	Right Atrium	heart
27	chr11:104903600-104905200	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr11:104903600-104906200	Active TSS	Brain Hippocampus Middle	brain
29	chr11:104903800-104905200	Enhancers	Stomach Mucosa	stomach
30	chr11:104904000-104904600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:104904000-104904600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:104904000-104904600	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr11:104904000-104904600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:104904000-104904600	Enhancers	Thymus	Thymus
35	chr11:104904000-104905200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:104904000-104905200	Flanking Active TSS	NHEK	skin
37	chr11:104904000-104905800	Active TSS	Colonic Mucosa	Colon
38	chr11:104904000-104906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:104904000-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:104904200-104904800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:104904200-104905000	Enhancers	Fetal Thymus	thymus
42	chr11:104904200-104905200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:104904200-104905400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr11:104904200-104905400	Flanking Active TSS	HMEC	breast
45	chr11:104904200-104906000	Active TSS	Brain Anterior Caudate	brain
46	chr11:104904200-104906000	Active TSS	Colon Smooth Muscle	Colon
47	chr11:104904200-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:104904200-104906200	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:104904200-104906200	Active TSS	Stomach Smooth Muscle	stomach
50	chr11:104904400-104904600	Active TSS	Primary hematopoietic stem cells	blood

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