Variant report

Variant	esv3387660
Chromosome Location	chr11:8998801-9001349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8994885..8996463-chr11:9001232..9004055,2	K562	blood:
2	chr11:8996657..8999652-chr11:9004082..9006608,2	MCF-7	breast:
3	chr11:8996724..8999605-chr11:9022687..9025353,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKIP1-1	chr11:8998972-8999074	ENSG00000254860.1
2	lnc-AKIP1-1	chr11:8998966-8999019	ENSG00000254860.1

Variant related genes	Relation type
ENSG00000175352	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142203196	chr11:8998808-8998809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376606682	chr11:8998830-8998831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149771894	chr11:8998866-8998867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558390803	chr11:8998867-8998868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552012614	chr11:8998872-8998873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372829994	chr11:8998995-8998996	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs4909965	chr11:8999006-8999007	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs4910238	chr11:8999056-8999057	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs71062803	chr11:8999101-8999102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61876268	chr11:8999209-8999210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185750264	chr11:8999304-8999305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370426661	chr11:8999341-8999342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377529551	chr11:8999382-8999383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553871251	chr11:8999645-8999646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563036229	chr11:8999649-8999650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536004946	chr11:8999653-8999654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200702705	chr11:8999796-8999797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113681371	chr11:8999806-8999807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113660956	chr11:9000075-9000076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61876271	chr11:9000168-9000169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368265491	chr11:9000256-9000257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9988890	chr11:9000305-9000306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11042144	chr11:9000350-9000351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573099578	chr11:9000457-9000458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532197933	chr11:9000485-9000486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4910255	chr11:9000499-9000500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531643635	chr11:9000527-9000528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7480803	chr11:9000558-9000559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189016312	chr11:9000584-9000585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10082675	chr11:9000678-9000679	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs200116691	chr11:9000689-9000690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558736941	chr11:9000705-9000706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181691752	chr11:9000798-9000799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3916733	chr11:9000989-9000990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1985275	chr11:9000993-9000994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552316145	chr11:9001027-9001028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373006519	chr11:9001054-9001055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544402657	chr11:9001069-9001070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1977042	chr11:9001072-9001073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370211974	chr11:9001100-9001101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566084793	chr11:9001105-9001106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575912557	chr11:9001108-9001109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202146985	chr11:9001111-9001112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138809085	chr11:9001112-9001113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59211587	chr11:9001115-9001116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60378556	chr11:9001116-9001117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534041823	chr11:9001152-9001153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554113519	chr11:9001159-9001160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12421656	chr11:9001176-9001177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567469823	chr11:9001213-9001214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8987000-9007200	Weak transcription	Brain Germinal Matrix	brain
2	chr11:8987000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:8987000-9010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:8987000-9011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:8987600-9005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:8987600-9006400	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:8987600-9010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:8987600-9010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:8987800-8999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:8987800-9005000	Weak transcription	Brain Angular Gyrus	brain
11	chr11:8987800-9010200	Weak transcription	NHDF-Ad	bronchial
12	chr11:8987800-9012000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:8989200-8999000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:8989600-9001400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:8989600-9002400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:8989600-9003400	Weak transcription	Fetal Stomach	stomach
17	chr11:8989600-9010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:8989600-9011200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:8991800-9015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:8992400-8999200	Weak transcription	Placenta	Placenta
22	chr11:8994000-9008600	Weak transcription	K562	blood
23	chr11:8996400-9005800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:8999600-9009800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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