Variant report

Variant	esv3427283
Chromosome Location	chr11:121481842-121485040
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	MAFF	chr11:121484968-121485152	HepG2	liver:	n/a	chr11:121485079-121485097
2	MAFK	chr11:121484941-121485216	HepG2	liver:	n/a	chr11:121485080-121485095
3	MAFK	chr11:121484925-121485247	HepG2	liver:	n/a	chr11:121485080-121485095
4	NFIC	chr11:121484432-121484850	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:121484565-121484765	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:121482277-121482496	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:121481996-121482108	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:121483307-121483761	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:121482712-121482795	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:121483047-121483159	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:121483719-121484104	GM12878	blood:	n/a	n/a
12	USF2	chr11:121481848-121481916	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369636020	chr11:121481848-121481849	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs373532501	chr11:121481886-121481887	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546510614	chr11:121481905-121481906	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs377492907	chr11:121481913-121481914	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368909124	chr11:121481915-121481916	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531980659	chr11:121481948-121481949	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375924204	chr11:121481951-121481952	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550389361	chr11:121481964-121481965	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562222195	chr11:121481967-121481968	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529407843	chr11:121481971-121481972	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547883102	chr11:121481980-121481981	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374667405	chr11:121481984-121481985	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566080589	chr11:121481985-121481986	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192257240	chr11:121482036-121482037	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141965759	chr11:121482037-121482038	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570650642	chr11:121482055-121482056	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538083264	chr11:121482080-121482081	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555946275	chr11:121482089-121482090	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560366188	chr11:121482096-121482097	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs368515175	chr11:121482163-121482164	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184317220	chr11:121482213-121482214	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150081098	chr11:121482221-121482222	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187206428	chr11:121482231-121482232	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138477408	chr11:121482252-121482253	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192523676	chr11:121482258-121482259	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564840590	chr11:121482317-121482318	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576673837	chr11:121482325-121482326	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11218361	chr11:121482327-121482328	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544081273	chr11:121482387-121482388	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562288097	chr11:121482392-121482393	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529474351	chr11:121482396-121482397	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs546311245	chr11:121482397-121482398	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542078831	chr11:121482436-121482437	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs143566621	chr11:121482452-121482453	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533407831	chr11:121482488-121482489	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs568368556	chr11:121482532-121482533	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372558799	chr11:121482547-121482548	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537494047	chr11:121482561-121482562	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148033617	chr11:121482571-121482572	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569991631	chr11:121482572-121482573	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537773577	chr11:121482576-121482577	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142703417	chr11:121482597-121482598	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567951806	chr11:121482688-121482689	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35317339	chr11:121482731-121482732	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535250890	chr11:121482732-121482733	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377576575	chr11:121482760-121482761	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553497486	chr11:121482773-121482774	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368167957	chr11:121482778-121482779	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs565629668	chr11:121482830-121482831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199527222	chr11:121482850-121482851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121440600-121485000	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:121448800-121495600	Weak transcription	Stomach Mucosa	stomach
3	chr11:121451200-121488200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:121453200-121504200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:121453400-121491200	Weak transcription	Small Intestine	intestine
6	chr11:121453400-121505400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:121454000-121503800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:121454400-121504000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:121454800-121503600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:121455600-121503800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:121456600-121501200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:121458000-121495000	Weak transcription	Right Ventricle	heart
13	chr11:121459200-121501400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:121460400-121491800	Weak transcription	Left Ventricle	heart
15	chr11:121461000-121491200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:121461400-121506200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:121461800-121505400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:121462200-121484400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:121462200-121490400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:121462200-121500400	Strong transcription	Fetal Thymus	thymus
21	chr11:121462200-121503600	Strong transcription	Primary B cells from cord blood	blood
22	chr11:121462200-121504200	Strong transcription	Dnd41	blood
23	chr11:121462200-121505600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:121462200-121505800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:121462400-121505200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:121462600-121495200	Weak transcription	Fetal Brain Male	brain
27	chr11:121462600-121503400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:121463000-121525400	Weak transcription	Fetal Kidney	kidney
29	chr11:121463200-121504000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr11:121463400-121505200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:121463600-121487000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:121464600-121506000	Strong transcription	GM12878-XiMat	blood
33	chr11:121465400-121486800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:121467400-121485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:121467400-121488200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:121468200-121501800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:121469400-121496400	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:121470400-121503800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:121470600-121482600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:121470800-121485200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:121472200-121487200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:121472200-121503400	Strong transcription	Fetal Intestine Large	intestine
43	chr11:121472400-121484000	Strong transcription	Fetal Brain Female	brain
44	chr11:121472400-121484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:121472400-121485200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:121472400-121496800	Strong transcription	NHEK	skin
47	chr11:121472400-121502800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:121472600-121485200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:121472600-121500200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:121472600-121503400	Strong transcription	Primary B cells from peripheral blood	blood

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