Variant report

Variant	esv3335445
Chromosome Location	chr11:16301976-16306474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16306276..16308117-chr11:16316163..16319101,2	K562	blood:
2	chr11:16306276..16309122-chr11:16315814..16317663,2	K562	blood:
3	chr11:16289702..16293016-chr11:16300436..16303911,5	K562	blood:
4	chr11:16292606..16296428-chr11:16299635..16303061,5	K562	blood:
5	chr11:16253830..16255900-chr11:16301377..16303054,2	K562	blood:
6	chr11:16300243..16302575-chr11:16402868..16404616,2	K562	blood:
7	chr11:16296567..16299036-chr11:16300156..16302132,2	K562	blood:
8	chr11:16302806..16305054-chr11:16360203..16362191,2	K562	blood:
9	chr11:16300623..16303536-chr11:16310934..16312660,2	K562	blood:
10	chr11:16304365..16307291-chr11:16625396..16627357,2	K562	blood:
11	chr11:16301382..16303241-chr11:16318945..16321849,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110693	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370204568	chr11:16302001-16302002	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531861826	chr11:16302018-16302019	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550334228	chr11:16302059-16302060	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs202125172	chr11:16302065-16302066	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150536676	chr11:16302078-16302079	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566946788	chr11:16302137-16302138	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79093481	chr11:16302142-16302143	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535525454	chr11:16302172-16302173	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535708776	chr11:16302184-16302185	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563856214	chr11:16302212-16302213	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548027503	chr11:16302251-16302252	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117581210	chr11:16302269-16302270	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569073226	chr11:16302281-16302282	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539015729	chr11:16302331-16302332	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557346564	chr11:16302377-16302378	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35570543	chr11:16302415-16302416	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111309867	chr11:16302423-16302424	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114500699	chr11:16302424-16302425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557610357	chr11:16302425-16302426	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573957346	chr11:16302448-16302449	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4336994	chr11:16302494-16302495	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139441214	chr11:16302573-16302574	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141519729	chr11:16302589-16302590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546188300	chr11:16302647-16302648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374369039	chr11:16302704-16302705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564459347	chr11:16302715-16302716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531770365	chr11:16302795-16302796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186742126	chr11:16302797-16302798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562049639	chr11:16302803-16302804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113914150	chr11:16302817-16302818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547692863	chr11:16302830-16302831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566328419	chr11:16302835-16302836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558915128	chr11:16302850-16302851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533430698	chr11:16302867-16302868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547718219	chr11:16302885-16302886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551683891	chr11:16302926-16302927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4757391	chr11:16302939-16302940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
38	rs146196587	chr11:16302971-16302972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191160817	chr11:16302988-16302989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567252558	chr11:16302997-16302998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534788734	chr11:16303148-16303149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75724450	chr11:16303151-16303152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577949201	chr11:16303205-16303206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553634381	chr11:16303317-16303318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17552977	chr11:16303359-16303360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557341259	chr11:16303388-16303389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139388152	chr11:16303401-16303402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543454097	chr11:16303426-16303427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562180429	chr11:16303468-16303469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529381759	chr11:16303470-16303471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16286800-16314800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:16298600-16302800	Weak transcription	Pancreas	Pancrea
3	chr11:16298800-16302000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr11:16300200-16313400	Weak transcription	Brain Germinal Matrix	brain
5	chr11:16300800-16302000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:16300800-16302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:16300800-16302000	Weak transcription	Fetal Intestine Small	intestine
8	chr11:16300800-16314200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:16301200-16302200	Active TSS	K562	blood
10	chr11:16301400-16302200	Enhancers	Primary T cells from cord blood	blood
11	chr11:16301600-16302000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:16301600-16302200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:16301600-16302200	Active TSS	Right Atrium	heart
14	chr11:16301600-16302400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:16301600-16302400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:16301600-16302400	Flanking Active TSS	NHEK	skin
17	chr11:16301600-16302400	Active TSS	Osteobl	bone
18	chr11:16301800-16302000	Active TSS	Adipose Nuclei	Adipose
19	chr11:16301800-16302000	Active TSS	Duodenum Mucosa	Duodenum
20	chr11:16301800-16302000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:16301800-16302000	Active TSS	HUVEC	blood vessel
22	chr11:16301800-16302200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:16301800-16302400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:16301800-16302400	Enhancers	Fetal Intestine Large	intestine
25	chr11:16301800-16302600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:16302000-16302200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:16302000-16302200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:16302000-16302200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:16302000-16302200	Enhancers	Fetal Intestine Small	intestine
30	chr11:16302000-16302200	Enhancers	Fetal Muscle Leg	muscle
31	chr11:16302000-16302200	Enhancers	Left Ventricle	heart
32	chr11:16302000-16302400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:16302000-16302400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:16302000-16302400	Enhancers	Fetal Lung	lung
35	chr11:16302000-16302400	Flanking Active TSS	HUVEC	blood vessel
36	chr11:16302000-16302800	Enhancers	Fetal Heart	heart
37	chr11:16302200-16302400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:16302200-16302600	Flanking Active TSS	K562	blood
39	chr11:16302200-16309000	Weak transcription	Fetal Intestine Small	intestine
40	chr11:16302200-16314200	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:16302200-16321600	Weak transcription	Left Ventricle	heart
42	chr11:16302400-16302600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr11:16302400-16302600	Enhancers	HUVEC	blood vessel
44	chr11:16302400-16307600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:16302400-16309200	Weak transcription	Fetal Intestine Large	intestine
46	chr11:16302600-16303000	Enhancers	K562	blood
47	chr11:16302600-16305400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:16303000-16310800	Weak transcription	K562	blood
49	chr11:16305400-16305800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr11:16305800-16308600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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