Variant report

Variant	nsv897092
Chromosome Location	chr11:24609026-24648325
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	chr11:24633675..24635960-chr11:24640173..24641928,2	MCF-7	breast:
2	chr11:24637190..24639298-chr11:24640996..24643885,2	K562	blood:
3	chr11:24637190..24639298-chr11:24640996..24643885,2	K562	blood:
4	chr11:24580149..24580792-chr11:24639250..24640044,2	MCF-7	breast:
5	chr11:24633675..24635960-chr11:24640173..24641928,2	MCF-7	breast:
6	chr11:24616790..24617455-chr12:118453452..118454276,2	MCF-7	breast:
7	chr11:24630589..24632702-chr11:24693704..24695798,2	K562	blood:
8	chr11:24601988..24604927-chr11:24607850..24610565,2	MCF-7	breast:
9	chr11:24614743..24616666-chr11:24619987..24622477,2	K562	blood:
10	chr10:88282828..88283523-chr11:24625182..24626065,2	MCF-7	breast:
11	chr11:24614743..24616666-chr11:24619987..24622477,2	K562	blood:

No data

Extended variants
information (count: 744 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7941966	chr11:24609026-24609027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544857765	chr11:24609052-24609053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80045589	chr11:24609061-24609062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530517213	chr11:24609075-24609076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550451007	chr11:24609076-24609077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567332090	chr11:24609091-24609092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529496545	chr11:24609109-24609110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188708568	chr11:24609145-24609146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114176793	chr11:24609151-24609152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191643037	chr11:24609190-24609191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115009995	chr11:24609193-24609194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571589870	chr11:24609194-24609195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537434880	chr11:24609195-24609196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557210943	chr11:24609263-24609264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76346166	chr11:24609283-24609284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184185629	chr11:24609332-24609333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552752927	chr11:24609333-24609334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80059404	chr11:24609339-24609340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74870882	chr11:24609340-24609341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188270916	chr11:24609351-24609352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544943054	chr11:24609386-24609387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570180020	chr11:24609394-24609395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191579386	chr11:24609408-24609409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185630581	chr11:24609424-24609425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560685249	chr11:24609486-24609487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190502331	chr11:24609560-24609561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546668914	chr11:24609577-24609578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566284864	chr11:24609579-24609580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528683819	chr11:24609580-24609581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs36072305	chr11:24609612-24609613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552146367	chr11:24609624-24609625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182478330	chr11:24609643-24609644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537533618	chr11:24609648-24609649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537314490	chr11:24609717-24609718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112887006	chr11:24609783-24609784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150282321	chr11:24609788-24609789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186600323	chr11:24609868-24609869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549495404	chr11:24609882-24609883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553041641	chr11:24609997-24609998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572748640	chr11:24610004-24610005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1858156	chr11:24610019-24610020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs558456623	chr11:24610036-24610037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16912881	chr11:24610066-24610067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544149217	chr11:24610084-24610085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138923715	chr11:24610118-24610119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs5790419	chr11:24610180-24610181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5009346	chr11:24610187-24610188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs5012310	chr11:24610188-24610189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566265164	chr11:24610189-24610190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199980343	chr11:24610208-24610209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24607000-24609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:24608800-24610000	Enhancers	NH-A	brain
3	chr11:24609000-24610000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:24609000-24610000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:24609000-24610200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:24609000-24610200	Enhancers	Hela-S3	cervix
7	chr11:24609000-24610200	Enhancers	HUVEC	blood vessel
8	chr11:24609200-24609600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:24609400-24610000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:24609400-24610200	Enhancers	NHEK	skin
11	chr11:24610000-24613600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:24610000-24614000	Weak transcription	NH-A	brain
13	chr11:24610000-24615000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:24610200-24612800	Weak transcription	Hela-S3	cervix
15	chr11:24610200-24613400	Weak transcription	HUVEC	blood vessel
16	chr11:24612800-24616200	Enhancers	Hela-S3	cervix
17	chr11:24613400-24614400	Enhancers	HUVEC	blood vessel
18	chr11:24613600-24615600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:24614000-24614400	Enhancers	NH-A	brain
20	chr11:24614600-24615600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:24615000-24615800	Enhancers	Fetal Heart	heart
22	chr11:24615000-24616000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:24615800-24616800	Weak transcription	Fetal Heart	heart
24	chr11:24616000-24620000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:24616800-24617800	Enhancers	Fetal Heart	heart
26	chr11:24617800-24620000	Weak transcription	Fetal Heart	heart
27	chr11:24619200-24620800	Enhancers	Brain Germinal Matrix	brain
28	chr11:24620000-24620600	Enhancers	Brain Substantia Nigra	brain
29	chr11:24620000-24620800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:24620000-24621200	Enhancers	Fetal Heart	heart
31	chr11:24624600-24625000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:24634200-24634800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:24634200-24635000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr11:24637800-24638200	Enhancers	Fetal Brain Male	brain
35	chr11:24641600-24643200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:24643200-24644000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:24644000-24644200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:24644000-24644400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:24644000-24644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:24644600-24645200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:24646000-24646600	Enhancers	Fetal Intestine Large	intestine

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