Variant report

Variant	esv3327231
Chromosome Location	chr11:59535476-59539774
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59523011..59526082-chr11:59538557..59541399,3	K562	blood:
2	chr11:59528800..59530439-chr11:59536843..59538361,2	K562	blood:
3	chr11:59537934..59539919-chr11:59561620..59564569,2	K562	blood:
4	chr11:59537545..59539274-chr11:59543031..59545057,2	K562	blood:
5	chr11:59533582..59535558-chr11:59538883..59542385,3	K562	blood:
6	chr11:59536748..59539443-chr11:59541723..59543400,2	MCF-7	breast:
7	chr11:59527952..59530580-chr11:59535251..59538243,2	MCF-7	breast:
8	chr11:59533582..59535558-chr11:59538883..59542385,3	K562	blood:
9	chr11:59536179..59538749-chr11:59573920..59575586,2	K562	blood:
10	chr11:59534862..59537569-chr11:59577750..59579659,2	K562	blood:
11	chr11:59533196..59536602-chr11:59539532..59544445,5	MCF-7	breast:
12	chr11:59534794..59538075-chr11:59541360..59543900,3	MCF-7	breast:
13	chr11:59536734..59539483-chr11:59558581..59561508,2	K562	blood:
14	chr11:59521316..59524312-chr11:59538184..59540491,4	MCF-7	breast:
15	chr11:59536792..59538546-chr11:59543250..59544969,2	K562	blood:
16	chr11:59535283..59538247-chr11:59566815..59570479,3	K562	blood:
17	chr11:59533196..59536602-chr11:59539532..59544445,5	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL16-2	chr11:59537334-59537765	NONHSAT021543
2	lnc-MRPL16-2	chr11:59537829-59537994	NONHSAT021543

No data

Variant related genes	Relation type
ENSG00000254477	chromatin interactions
ENSG00000166900	chromatin interactions
ENSG00000166902	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189932375	chr11:59535517-59535518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541687667	chr11:59535548-59535549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79399061	chr11:59535562-59535563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147335322	chr11:59535604-59535605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530110283	chr11:59535661-59535662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546022571	chr11:59535664-59535665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370459511	chr11:59535687-59535688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573922125	chr11:59535732-59535733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564013701	chr11:59535771-59535772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528533279	chr11:59535788-59535789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181242525	chr11:59535847-59535848	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528151587	chr11:59535848-59535849	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149417064	chr11:59535850-59535851	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143948273	chr11:59535883-59535884	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs41384548	chr11:59535902-59535903	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548885165	chr11:59535943-59535944	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541295447	chr11:59535950-59535951	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373738413	chr11:59535968-59535969	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559146784	chr11:59535973-59535974	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61548613	chr11:59535983-59535984	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs515974	chr11:59536062-59536063	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574369991	chr11:59536076-59536077	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553310046	chr11:59536082-59536083	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552085093	chr11:59536085-59536086	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34957879	chr11:59536088-59536089	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs516912	chr11:59536179-59536180	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574474578	chr11:59536205-59536206	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77264356	chr11:59536271-59536272	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556831675	chr11:59536285-59536286	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75501583	chr11:59536298-59536299	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148641200	chr11:59536308-59536309	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568053101	chr11:59536423-59536424	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564262963	chr11:59536453-59536454	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528299339	chr11:59536484-59536485	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540291354	chr11:59536485-59536486	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77199971	chr11:59536501-59536502	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572324098	chr11:59536549-59536550	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112284788	chr11:59536608-59536609	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570354238	chr11:59536621-59536622	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143131874	chr11:59536659-59536660	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186848292	chr11:59536668-59536669	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570989447	chr11:59536693-59536694	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368838053	chr11:59536737-59536738	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534938890	chr11:59536793-59536794	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553378882	chr11:59536827-59536828	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs568260011	chr11:59536828-59536829	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374699875	chr11:59536838-59536839	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201681674	chr11:59536845-59536846	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556893023	chr11:59536862-59536863	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139126690	chr11:59536894-59536895	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	18632612	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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59524000-59539200	Weak transcription	Liver	Liver
2	chr11:59524200-59545200	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:59524400-59542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:59524400-59545600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:59524400-59557000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:59524600-59537200	Weak transcription	NHLF	lung
7	chr11:59524600-59538400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:59524600-59557400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:59524600-59573800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:59524800-59536400	Weak transcription	NHDF-Ad	bronchial
11	chr11:59524800-59539400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:59524800-59540600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:59524800-59543000	Weak transcription	A549	lung
14	chr11:59524800-59543800	Weak transcription	NH-A	brain
15	chr11:59524800-59553400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:59524800-59555400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:59525000-59539000	Weak transcription	HUVEC	blood vessel
18	chr11:59525200-59537400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:59525200-59540600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:59525200-59543600	Weak transcription	Hela-S3	cervix
21	chr11:59525400-59540600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:59525400-59543400	Weak transcription	HMEC	breast
23	chr11:59525400-59551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:59525600-59557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:59526000-59541600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:59527800-59541800	Weak transcription	Fetal Stomach	stomach
27	chr11:59529400-59541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:59530000-59540600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:59530400-59540600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:59530400-59540600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:59530600-59538400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:59530800-59540400	Weak transcription	NHEK	skin
33	chr11:59530800-59545000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:59531000-59540200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:59531000-59541600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:59531600-59536800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:59532000-59536000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:59532000-59536400	Enhancers	Fetal Intestine Large	intestine
39	chr11:59532000-59539600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:59532000-59543800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:59532600-59535800	Enhancers	Stomach Mucosa	stomach
42	chr11:59532600-59536400	Enhancers	Left Ventricle	heart
43	chr11:59532600-59538200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr11:59532800-59536000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:59532800-59537400	Enhancers	Primary B cells from cord blood	blood
46	chr11:59532800-59537400	Weak transcription	Esophagus	oesophagus
47	chr11:59532800-59537600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr11:59533000-59535600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:59533000-59537200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:59533000-59544000	Weak transcription	Psoas Muscle	Psoas

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