Variant report

Variant	esv3359382
Chromosome Location	chr11:57258801-57261349
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57260501..57261553-chr11:57294214..57295258,6	MCF-7	breast:
2	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:
3	chr11:57258888..57259762-chr11:57412016..57412949,3	MCF-7	breast:
4	chr11:57258861..57259534-chr11:57294323..57294936,2	MCF-7	breast:
5	chr11:57260987..57261534-chr11:57294341..57295268,4	K562	blood:
6	chr11:57192415..57195414-chr11:57258192..57260689,2	K562	blood:
7	chr11:57260838..57262632-chr11:57281221..57283072,2	K562	blood:
8	chr11:57260557..57261860-chr11:57294319..57295311,12	MCF-7	breast:
9	chr11:57253056..57260530-chr11:57277596..57285007,11	K562	blood:
10	chr11:57258981..57259832-chr11:57294341..57295266,3	K562	blood:
11	chr11:57260621..57264536-chr11:57264640..57268839,7	K562	blood:
12	chr11:57225843..57227137-chr11:57260517..57261378,3	MCF-7	breast:
13	chr11:57260580..57261537-chr11:57411949..57412991,4	K562	blood:
14	chr11:57254555..57260449-chr11:57262001..57269915,7	K562	blood:
15	chr11:57258661..57259261-chr11:57328962..57329548,2	MCF-7	breast:
16	chr11:57260595..57261527-chr11:57335333..57335865,2	MCF-7	breast:
17	chr11:57247726..57251510-chr11:57253790..57259247,6	K562	blood:
18	chr11:57260706..57264705-chr11:57283186..57286169,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149150	chromatin interactions
ENSG00000134809	chromatin interactions
ENSG00000134802	chromatin interactions
ENSG00000156587	chromatin interactions
ENSG00000251995	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367948008	chr11:57258801-57258802	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs138052685	chr11:57258813-57258814	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs375162573	chr11:57258831-57258832	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs548569955	chr11:57258846-57258847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201830827	chr11:57258883-57258884	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs572417153	chr11:57258895-57258896	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs536502882	chr11:57258933-57258934	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555807830	chr11:57258966-57258967	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs573943872	chr11:57258999-57259000	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148279036	chr11:57259002-57259003	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs112839175	chr11:57259014-57259015	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs200129666	chr11:57259015-57259016	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs545234607	chr11:57259028-57259029	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375289516	chr11:57259032-57259033	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs536957216	chr11:57259033-57259034	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369228611	chr11:57259041-57259042	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs149047417	chr11:57259074-57259075	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs202180094	chr11:57259088-57259089	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs202018601	chr11:57259115-57259116	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs201015966	chr11:57259130-57259131	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs200416899	chr11:57259140-57259141	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375084625	chr11:57259148-57259149	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs71484452	chr11:57259159-57259160	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs377637790	chr11:57259163-57259164	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs80180256	chr11:57259178-57259179	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs376126438	chr11:57259179-57259180	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs368500654	chr11:57259181-57259182	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs35730224	chr11:57259193-57259194	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs376891589	chr11:57259228-57259229	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs148131852	chr11:57259237-57259238	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs538987593	chr11:57259280-57259281	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370449939	chr11:57259283-57259284	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs372756120	chr11:57259301-57259302	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs141938667	chr11:57259320-57259321	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs201650859	chr11:57259321-57259322	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs200433921	chr11:57259330-57259331	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs190774372	chr11:57259361-57259362	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs75089385	chr11:57259521-57259522	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs150827269	chr11:57259580-57259581	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs576232381	chr11:57259596-57259597	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs538270263	chr11:57259599-57259600	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs35726939	chr11:57259609-57259610	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs183429006	chr11:57259624-57259625	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs578082514	chr11:57259634-57259635	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs10750864	chr11:57259694-57259695	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs145491475	chr11:57259698-57259699	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs28655441	chr11:57259783-57259784	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs572280061	chr11:57259884-57259885	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs200983541	chr11:57259904-57259905	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs58752761	chr11:57259917-57259918	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Angio-oedema	21790735	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57250600-57259600	Strong transcription	Pancreas	Pancrea
2	chr11:57250800-57259600	Strong transcription	HepG2	liver
3	chr11:57250800-57266000	Weak transcription	Right Atrium	heart
4	chr11:57251000-57260600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:57251000-57261400	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:57251000-57266800	Weak transcription	HUVEC	blood vessel
7	chr11:57251000-57267400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:57251200-57259600	Strong transcription	Liver	Liver
9	chr11:57251200-57260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:57251200-57260800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:57251200-57261000	Weak transcription	Brain Angular Gyrus	brain
12	chr11:57251200-57261000	Weak transcription	Dnd41	blood
13	chr11:57251200-57263800	Strong transcription	Ovary	ovary
14	chr11:57251200-57266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:57251200-57266800	Weak transcription	HSMM	muscle
16	chr11:57251200-57280600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:57251400-57261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:57251400-57266000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:57251400-57266200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:57251400-57266400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:57251400-57266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:57251400-57279200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:57251400-57281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:57251600-57259600	Strong transcription	Fetal Intestine Small	intestine
25	chr11:57251600-57259800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr11:57251600-57260800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:57251600-57266800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:57251800-57266200	Strong transcription	Fetal Stomach	stomach
29	chr11:57252000-57259200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:57252000-57259200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:57252000-57259200	Strong transcription	Aorta	Aorta
32	chr11:57252000-57259400	Strong transcription	Gastric	stomach
33	chr11:57252000-57260800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:57252200-57259400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:57252200-57259400	Strong transcription	Colon Smooth Muscle	Colon
36	chr11:57252200-57259400	Strong transcription	Right Ventricle	heart
37	chr11:57252200-57261000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:57252200-57261000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:57252400-57264000	Weak transcription	Stomach Mucosa	stomach
40	chr11:57252600-57259000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:57252600-57267600	Weak transcription	Small Intestine	intestine
42	chr11:57252800-57266800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:57253200-57259600	Strong transcription	Spleen	Spleen
44	chr11:57253200-57266800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:57253200-57266800	Weak transcription	Thymus	Thymus
46	chr11:57253400-57259600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:57253400-57263200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:57253400-57266800	Weak transcription	Fetal Thymus	thymus
49	chr11:57253600-57259000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:57253600-57259200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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