Variant report

Variant	esv3465341
Chromosome Location	chr11:101376895-101383766
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	chr11:101379723-101379937	HepG2	liver:	n/a	chr11:101379791-101379802 chr11:101379790-101379803
2	CTCF	chr11:101376980-101377130	HMF	breast:	n/a	n/a
3	JUN	chr11:101378384-101378463	HepG2	liver:	n/a	chr11:101378435-101378448
4	MAFK	chr11:101381400-101381594	HepG2	liver:	n/a	n/a
5	MAFK	chr11:101381361-101381593	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:101378385-101378398	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:101380873-101381050	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr11:101379150-101379405	GM12891	blood:	n/a	chr11:101379303-101379316 chr11:101379360-101379367 chr11:101379302-101379315 chr11:101379359-101379368 chr11:101379250-101379263 chr11:101379357-101379370 chr11:101379356-101379369 chr11:101379305-101379312 chr11:101379300-101379309
9	SPI1	chr11:101379197-101379377	GM12878	blood:	n/a	chr11:101379303-101379316 chr11:101379360-101379367 chr11:101379302-101379315 chr11:101379359-101379368 chr11:101379250-101379263 chr11:101379357-101379370 chr11:101379356-101379369 chr11:101379305-101379312 chr11:101379300-101379309
10	SPI1	chr11:101379103-101379393	GM12891	blood:	n/a	chr11:101379303-101379316 chr11:101379360-101379367 chr11:101379302-101379315 chr11:101379359-101379368 chr11:101379250-101379263 chr11:101379357-101379370 chr11:101379356-101379369 chr11:101379305-101379312 chr11:101379300-101379309
11	SPI1	chr11:101379041-101379425	GM12878	blood:	n/a	chr11:101379303-101379316 chr11:101379360-101379367 chr11:101379302-101379315 chr11:101379359-101379368 chr11:101379250-101379263 chr11:101379357-101379370 chr11:101379356-101379369 chr11:101379305-101379312 chr11:101379300-101379309
12	SPI1	chr11:101379151-101379498	HL-60	blood:	n/a	chr11:101379303-101379316 chr11:101379360-101379367 chr11:101379302-101379315 chr11:101379359-101379368 chr11:101379250-101379263 chr11:101379357-101379370 chr11:101379356-101379369 chr11:101379305-101379312 chr11:101379300-101379309
13	SPI1	chr11:101379172-101379419	GM12878	blood:	n/a	chr11:101379303-101379316 chr11:101379360-101379367 chr11:101379302-101379315 chr11:101379359-101379368 chr11:101379250-101379263 chr11:101379357-101379370 chr11:101379356-101379369 chr11:101379305-101379312 chr11:101379300-101379309

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101383577..101385608-chr11:101393235..101396099,2	MCF-7	breast:
2	chr11:101373238..101376109-chr11:101378947..101380579,2	K562	blood:

Variant related genes	Relation type
TRPC6	TF binding region
ENSG00000137672	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:251 , 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	rs547181368	chr11:101376898-101376899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566980613	chr11:101376904-101376905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34875945	chr11:101376907-101376908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552703189	chr11:101376975-101376976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569197935	chr11:101376976-101376977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538225160	chr11:101377004-101377005	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557004840	chr11:101377021-101377022	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148054293	chr11:101377034-101377035	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115719560	chr11:101377059-101377060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567682074	chr11:101377085-101377086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs116182965	chr11:101377116-101377117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs180672218	chr11:101377148-101377149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75002973	chr11:101377157-101377158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575164918	chr11:101377176-101377177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116577782	chr11:101377245-101377246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561439720	chr11:101377333-101377334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530378268	chr11:101377365-101377366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536237776	chr11:101377375-101377376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186441768	chr11:101377383-101377384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114120197	chr11:101377384-101377385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532746113	chr11:101377448-101377449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4754763	chr11:101377484-101377485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189743974	chr11:101377538-101377539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569316569	chr11:101377560-101377561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537877435	chr11:101377600-101377601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575579678	chr11:101377635-101377636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375385336	chr11:101377719-101377720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142707097	chr11:101377728-101377729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35863834	chr11:101377738-101377739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397848475	chr11:101377739-101377740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536093451	chr11:101377756-101377757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10590147	chr11:101377781-101377782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141075300	chr11:101377783-101377784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373723182	chr11:101377819-101377820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11224806	chr11:101377832-101377833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374424594	chr11:101377943-101377944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145996078	chr11:101377945-101377946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538430882	chr11:101377960-101377961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557941044	chr11:101377978-101377979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558397635	chr11:101378029-101378030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115935617	chr11:101378054-101378055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199511895	chr11:101378061-101378062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144965095	chr11:101378062-101378063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139923780	chr11:101378103-101378104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34917579	chr11:101378111-101378112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554503535	chr11:101378117-101378118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574483182	chr11:101378136-101378137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143645735	chr11:101378141-101378142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77869143	chr11:101378152-101378153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10750605	chr11:101378158-101378159	Weak transcription	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
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
Melanoma	22183965	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
Myelofibrosis	22110671	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
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101350000-101384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:101375200-101387400	Weak transcription	Ovary	ovary
3	chr11:101375400-101378000	Weak transcription	Fetal Lung	lung
4	chr11:101375600-101377800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:101376200-101391600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:101379000-101381600	Enhancers	Fetal Intestine Large	intestine
7	chr11:101379000-101382200	Enhancers	Fetal Intestine Small	intestine
8	chr11:101379200-101379600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:101379200-101379800	Enhancers	Primary B cells from cord blood	blood
10	chr11:101379400-101380000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:101379600-101380600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:101380000-101380800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:101380600-101380800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:101380800-101381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:101380800-101381200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:101381000-101381800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr11:101381200-101381400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:101381200-101382000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:101381200-101382200	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:101381400-101381800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:101381400-101381800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr11:101381400-101382200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:101382000-101386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:101382200-101387000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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