Variant report

Variant	nsv982989
Chromosome Location	chr11:17456773-17457868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:17456640-17456790	WERI-Rb-1	eye:	n/a	n/a
2	EGR1	chr11:17456626-17456862	K562	blood:	n/a	chr11:17456722-17456731 chr11:17456752-17456762 chr11:17456721-17456734 chr11:17456752-17456762 chr11:17456751-17456762 chr11:17456750-17456764 chr11:17456751-17456762
3	EGR1	chr11:17456601-17456917	K562	blood:	n/a	chr11:17456722-17456731 chr11:17456752-17456762 chr11:17456721-17456734 chr11:17456752-17456762 chr11:17456751-17456762 chr11:17456750-17456764 chr11:17456751-17456762

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNJ11-3	chr11:17457219-17457728	NONHSAT018235

Variant related genes	Relation type
SDHCP4	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 53 )

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	rs75089521	chr11:17456773-17456774	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs75523645	chr11:17456777-17456778	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs79050109	chr11:17456779-17456780	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs75960542	chr11:17456791-17456792	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs76944991	chr11:17456792-17456793	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs75747645	chr11:17456807-17456808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80170521	chr11:17456843-17456844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79900871	chr11:17456846-17456847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77034702	chr11:17456861-17456862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76521230	chr11:17456866-17456867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79584400	chr11:17456886-17456887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76948244	chr11:17456888-17456889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79452342	chr11:17456889-17456890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538938832	chr11:17456940-17456941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184854570	chr11:17456956-17456957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375370221	chr11:17457031-17457032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75156366	chr11:17457039-17457040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552180589	chr11:17457057-17457058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557753739	chr11:17457063-17457064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371034224	chr11:17457070-17457071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536834752	chr11:17457117-17457118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111342583	chr11:17457183-17457184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113305902	chr11:17457210-17457211	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs143902504	chr11:17457243-17457244	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555185931	chr11:17457244-17457245	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
26	rs373434838	chr11:17457248-17457249	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
27	rs111389269	chr11:17457261-17457262	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
28	rs199704053	chr11:17457263-17457264	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200093094	chr11:17457277-17457278	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
30	rs199969269	chr11:17457287-17457288	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
31	rs189191331	chr11:17457296-17457297	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
32	rs554249968	chr11:17457306-17457307	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
33	rs75622570	chr11:17457314-17457315	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
34	rs79325635	chr11:17457322-17457323	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
35	rs78398904	chr11:17457331-17457332	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs78627792	chr11:17457332-17457333	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs77313772	chr11:17457333-17457334	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs74975854	chr11:17457335-17457336	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs572315962	chr11:17457342-17457343	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs79837978	chr11:17457343-17457344	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs77832494	chr11:17457346-17457347	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs116898823	chr11:17457375-17457376	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs76203009	chr11:17457388-17457389	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs76802439	chr11:17457390-17457391	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs78632482	chr11:17457406-17457407	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs79049059	chr11:17457422-17457423	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs79183751	chr11:17457424-17457425	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs75800583	chr11:17457425-17457426	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs75456263	chr11:17457434-17457435	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs114746662	chr11:17457440-17457441	Weak transcription Enhancers	lncRNA	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
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
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
2	chr11:17443600-17458000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:17446400-17460600	Weak transcription	Fetal Intestine Small	intestine
5	chr11:17450200-17457800	Enhancers	Fetal Muscle Leg	muscle
6	chr11:17451800-17458800	Weak transcription	Fetal Thymus	thymus
7	chr11:17452600-17457600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:17452800-17459000	Weak transcription	Lung	lung
9	chr11:17453000-17460200	Weak transcription	Gastric	stomach
10	chr11:17454000-17464000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:17454200-17458800	Weak transcription	Dnd41	blood
12	chr11:17454200-17465800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:17454800-17457200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:17455400-17457000	Enhancers	Fetal Brain Male	brain
15	chr11:17455600-17456800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:17455600-17457800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:17455800-17457200	Enhancers	HSMMtube	muscle
18	chr11:17456000-17457000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:17456000-17457200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:17456000-17457200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:17456000-17457800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:17456200-17457000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:17456200-17460200	Weak transcription	Fetal Brain Female	brain
25	chr11:17456200-17461000	Weak transcription	Spleen	Spleen
26	chr11:17456400-17456800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr11:17456600-17457400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:17456600-17457800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:17456600-17460400	Weak transcription	Fetal Lung	lung
30	chr11:17456800-17457000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:17457000-17457400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:17457000-17467200	Weak transcription	Fetal Brain Male	brain
33	chr11:17457200-17457400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:17457200-17459200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:17457200-17465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:17457400-17464600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:17457600-17457800	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:17457600-17458400	Enhancers	Hela-S3	cervix
39	chr11:17457800-17459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:17457800-17460400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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