Variant report

Variant	esv2575562
Chromosome Location	chr11:94191039-94192612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94190407..94192299-chr11:94225577..94228062,2	K562	blood:
2	chr11:94187673..94189503-chr11:94190154..94193053,2	K562	blood:

Variant related genes	Relation type
ENSG00000020922	chromatin interactions
ENSG00000168876	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201532416	chr11:94191039-94191040	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368233217	chr11:94191049-94191050	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372775253	chr11:94191051-94191052	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372404360	chr11:94191053-94191054	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs3837389	chr11:94191054-94191055	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs3016399	chr11:94191055-94191056	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201801759	chr11:94191057-94191058	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs59362426	chr11:94191070-94191071	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530550245	chr11:94191079-94191080	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs59279005	chr11:94191080-94191081	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200256227	chr11:94191205-94191206	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201307200	chr11:94191206-94191207	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199759258	chr11:94191207-94191208	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs397704166	chr11:94191208-94191209	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142370475	chr11:94191259-94191260	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557222584	chr11:94191328-94191329	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564388305	chr11:94191342-94191343	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192886708	chr11:94191364-94191365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575490468	chr11:94191365-94191366	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532954374	chr11:94191373-94191374	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185482490	chr11:94191405-94191406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs13447672	chr11:94191411-94191412	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs13447671	chr11:94191416-94191417	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs13447670	chr11:94191486-94191487	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535933830	chr11:94191512-94191513	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144452476	chr11:94191556-94191557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs59352318	chr11:94191557-94191558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79810810	chr11:94191558-94191559	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367831141	chr11:94191559-94191560	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs58485772	chr11:94191561-94191562	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532109659	chr11:94191566-94191567	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs13447669	chr11:94191574-94191575	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562783635	chr11:94191584-94191585	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530327796	chr11:94191592-94191593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191900427	chr11:94191610-94191611	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549109943	chr11:94191645-94191646	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184242221	chr11:94191655-94191656	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188091136	chr11:94191750-94191751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111776690	chr11:94191772-94191773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13447668	chr11:94191814-94191815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117503744	chr11:94191849-94191850	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs13447667	chr11:94191907-94191908	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550784741	chr11:94191921-94191922	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568916536	chr11:94191934-94191935	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77973064	chr11:94191989-94191990	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541373187	chr11:94192040-94192041	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs13447666	chr11:94192041-94192042	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs625245	chr11:94192103-94192104	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs573107978	chr11:94192117-94192118	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201546881	chr11:94192142-94192143	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
6	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
9	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
13	chr11:94166600-94216400	Weak transcription	Gastric	stomach
14	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
15	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
17	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
20	chr11:94170000-94192600	Weak transcription	Aorta	Aorta
21	chr11:94170000-94192800	Weak transcription	Right Ventricle	heart
22	chr11:94170000-94192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:94170000-94194200	Weak transcription	Spleen	Spleen
24	chr11:94170200-94192400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:94170400-94192200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:94177800-94192600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:94178400-94192800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:94178600-94192400	Weak transcription	HUVEC	blood vessel
30	chr11:94179000-94192600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:94179000-94192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
33	chr11:94179200-94199000	Weak transcription	Fetal Brain Female	brain
34	chr11:94179200-94200000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:94179400-94192400	Weak transcription	HSMM	muscle
36	chr11:94179400-94192600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:94179600-94192800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:94180400-94192600	Weak transcription	NH-A	brain
41	chr11:94180400-94192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:94180400-94199000	Weak transcription	Brain Germinal Matrix	brain
43	chr11:94180600-94192200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:94180600-94192400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:94180600-94192600	Weak transcription	Fetal Intestine Large	intestine
46	chr11:94180600-94192800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:94180600-94202800	Weak transcription	Brain Anterior Caudate	brain
48	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
49	chr11:94180800-94192600	Weak transcription	Placenta	Placenta
50	chr11:94180800-94194200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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