Variant report

Variant	esv2631763
Chromosome Location	chr11:16319386-16320889
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16301382..16303241-chr11:16318945..16321849,2	K562	blood:
2	chr11:16320208..16325267-chr11:16327688..16333055,7	K562	blood:
3	chr11:16253250..16255469-chr11:16319154..16321553,2	K562	blood:
4	chr11:16318535..16320234-chr11:16433595..16435121,2	K562	blood:
5	chr11:16315356..16317680-chr11:16319663..16321885,2	K562	blood:
6	chr11:16312308..16315200-chr11:16317482..16320293,3	K562	blood:
7	chr11:16317353..16319622-chr11:16356044..16358376,2	K562	blood:
8	chr11:16319654..16322461-chr11:16374502..16376452,2	K562	blood:
9	chr11:16315419..16322751-chr11:16322783..16327004,9	K562	blood:

No data

Extended variants
information (count: 41 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11023905	chr11:16319386-16319387	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201981756	chr11:16319399-16319400	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550157457	chr11:16319410-16319411	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569958754	chr11:16319478-16319479	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562051292	chr11:16319534-16319535	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542986632	chr11:16319536-16319537	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528833637	chr11:16319577-16319578	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546970262	chr11:16319641-16319642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565372614	chr11:16319656-16319657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539152953	chr11:16319668-16319669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12225830	chr11:16319714-16319715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs373105600	chr11:16319830-16319831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192640831	chr11:16319901-16319902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537259946	chr11:16319917-16319918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10741696	chr11:16319922-16319923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140857419	chr11:16319998-16319999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534944415	chr11:16320074-16320075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554191325	chr11:16320086-16320087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572443560	chr11:16320093-16320094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545976324	chr11:16320108-16320109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184621404	chr11:16320177-16320178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565251361	chr11:16320208-16320209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113856057	chr11:16320238-16320239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576517329	chr11:16320247-16320248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74741765	chr11:16320317-16320318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532541245	chr11:16320370-16320371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189024049	chr11:16320393-16320394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529529024	chr11:16320417-16320418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548429952	chr11:16320423-16320424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369183468	chr11:16320462-16320463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112487693	chr11:16320484-16320485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537248778	chr11:16320542-16320543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373802250	chr11:16320553-16320554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547726186	chr11:16320615-16320616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558921859	chr11:16320704-16320705	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576153874	chr11:16320758-16320759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551149286	chr11:16320796-16320797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569748996	chr11:16320797-16320798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149770838	chr11:16320805-16320806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549176804	chr11:16320877-16320878	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567502586	chr11:16320887-16320888	Weak transcription Enhancers Flanking Active TSS	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16302200-16321600	Weak transcription	Left Ventricle	heart
2	chr11:16313200-16319800	Enhancers	Fetal Heart	heart
3	chr11:16313400-16322200	Enhancers	Brain Germinal Matrix	brain
4	chr11:16315200-16351800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:16315400-16319400	Weak transcription	Small Intestine	intestine
6	chr11:16315600-16321600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:16315600-16322200	Weak transcription	Fetal Kidney	kidney
8	chr11:16317000-16320000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:16317200-16319400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:16317400-16327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:16318800-16319800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:16319000-16319400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:16319000-16319400	Weak transcription	Fetal Brain Female	brain
14	chr11:16319000-16319400	Enhancers	Fetal Muscle Leg	muscle
15	chr11:16319000-16319400	Enhancers	Pancreas	Pancrea
16	chr11:16319000-16319400	Enhancers	Psoas Muscle	Psoas
17	chr11:16319000-16319400	Enhancers	Right Ventricle	heart
18	chr11:16319000-16319400	Flanking Active TSS	K562	blood
19	chr11:16319000-16319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:16319000-16319600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:16319000-16319600	Enhancers	Fetal Lung	lung
22	chr11:16319200-16319400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:16319200-16319600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:16319200-16319600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr11:16319200-16319600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:16319400-16319600	Enhancers	K562	blood
27	chr11:16319400-16319800	Enhancers	Fetal Brain Female	brain
28	chr11:16319400-16321400	Weak transcription	Pancreas	Pancrea
29	chr11:16319400-16321600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:16319400-16321600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:16319400-16322000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:16319400-16377600	Weak transcription	Psoas Muscle	Psoas
33	chr11:16319600-16320600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:16319600-16320800	Weak transcription	K562	blood
35	chr11:16319600-16321400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:16319600-16321800	Weak transcription	Fetal Lung	lung
37	chr11:16319600-16321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:16319800-16321200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:16320000-16320400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:16320400-16320600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:16320600-16321000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:16320600-16340600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:16320800-16321000	Flanking Active TSS	K562	blood
44	chr11:16320800-16321600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:16320800-16321800	Enhancers	HepG2	liver

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