Variant report

Variant	esv3502371
Chromosome Location	chr11:94272035-94273401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:94272761-94272832	NHEK	skin:	n/a	n/a
2	CTCF	chr11:94272758-94272856	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:94272700-94272850	SAEC	small airway:	n/a	n/a
4	CTCF	chr11:94272700-94272850	Caco-2	colon:	n/a	n/a
5	CTCF	chr11:94272740-94272890	SAEC	small airway:	n/a	n/a
6	CTCF	chr11:94272747-94272863	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:94272660-94272810	Caco-2	colon:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:94265063..94266906-chr11:94270765..94272464,2	K562	blood:
2	chr11:94272866..94275420-chr11:94275644..94280283,4	MCF-7	breast:
3	chr11:94272096..94274160-chr11:94299141..94300708,2	K562	blood:

No data

Variant related genes	Relation type
PIWIL4	TF binding region
FUT4	TF binding region
ENSG00000196371	chromatin interactions
ENSG00000134627	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547920486	chr11:94272050-94272051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181691508	chr11:94272051-94272052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375464958	chr11:94272073-94272074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs151225011	chr11:94272080-94272081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186795149	chr11:94272085-94272086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs140390086	chr11:94272095-94272096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549224450	chr11:94272096-94272097	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570434386	chr11:94272137-94272138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150362988	chr11:94272197-94272198	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373456042	chr11:94272244-94272245	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551219508	chr11:94272247-94272248	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536903788	chr11:94272249-94272250	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537022896	chr11:94272270-94272271	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548730207	chr11:94272275-94272276	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372190328	chr11:94272301-94272302	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566047270	chr11:94272302-94272303	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201864121	chr11:94272307-94272308	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11828153	chr11:94272308-94272309	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76059151	chr11:94272314-94272315	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10831237	chr11:94272320-94272321	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10765683	chr11:94272330-94272331	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10765684	chr11:94272348-94272349	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs386756339	chr11:94272380-94272381	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10765685	chr11:94272389-94272390	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138023022	chr11:94272445-94272446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77573539	chr11:94272447-94272448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34779615	chr11:94272448-94272449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34838617	chr11:94272449-94272450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71305373	chr11:94272462-94272463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113242956	chr11:94272466-94272467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34132851	chr11:94272477-94272478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573280975	chr11:94272501-94272502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540281545	chr11:94272503-94272504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565046731	chr11:94272511-94272512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576295080	chr11:94272543-94272544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544823006	chr11:94272581-94272582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116213473	chr11:94272583-94272584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530747865	chr11:94272588-94272589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548952914	chr11:94272647-94272648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78755675	chr11:94272665-94272666	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs370197843	chr11:94272687-94272688	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs369616122	chr11:94272706-94272707	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs546679038	chr11:94272764-94272765	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs72963816	chr11:94272800-94272801	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11020822	chr11:94272846-94272847	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141534703	chr11:94272892-94272893	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs11020823	chr11:94272898-94272899	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536586651	chr11:94272945-94272946	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555244521	chr11:94272950-94272951	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148387246	chr11:94273024-94273025	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94267600-94276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:94267600-94276400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:94268800-94273400	Enhancers	Fetal Intestine Large	intestine
4	chr11:94268800-94273800	Enhancers	Duodenum Mucosa	Duodenum
5	chr11:94270600-94276400	Weak transcription	Fetal Lung	lung
6	chr11:94271000-94276200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:94271000-94276400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:94271200-94272600	Weak transcription	Stomach Mucosa	stomach
9	chr11:94271200-94273400	Weak transcription	Colonic Mucosa	Colon
10	chr11:94271200-94273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:94271200-94276000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:94271200-94276000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:94271200-94276200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:94271200-94276200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:94271200-94276200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:94271200-94276200	Weak transcription	Aorta	Aorta
17	chr11:94271200-94276400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:94271200-94276400	Weak transcription	Adipose Nuclei	Adipose
19	chr11:94271200-94276600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:94271200-94276800	Weak transcription	HMEC	breast
21	chr11:94271800-94272600	Enhancers	Small Intestine	intestine
22	chr11:94271800-94274000	Enhancers	Fetal Intestine Small	intestine
23	chr11:94272000-94272400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr11:94272000-94272800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:94272400-94276400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:94272600-94275400	Enhancers	Stomach Mucosa	stomach
27	chr11:94272600-94276800	Weak transcription	Small Intestine	intestine
28	chr11:94272800-94273400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:94273400-94273800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:94273400-94274200	Enhancers	Colonic Mucosa	Colon
31	chr11:94273400-94275400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:94273400-94276000	Weak transcription	Fetal Intestine Large	intestine

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