Variant report

Variant	nsv897025
Chromosome Location	chr11:17619908-17640500
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17620264..17621016-chr11:17999920..18001368,5	MCF-7	breast:
2	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
3	chr11:17612630..17615852-chr11:17618211..17621966,5	K562	blood:
4	chr11:17622618..17623441-chr11:17752027..17752742,2	K562	blood:
5	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
6	chr11:17613851..17615852-chr11:17618266..17620129,2	K562	blood:
7	chr11:17622422..17624117-chr11:17750393..17752396,2	MCF-7	breast:
8	chr11:17622892..17623600-chr11:17752018..17752807,2	MCF-7	breast:
9	chr11:17622678..17623570-chr11:17743313..17743816,2	MCF-7	breast:
10	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
11	chr11:17620217..17621179-chr11:17742829..17744247,6	MCF-7	breast:
12	chr11:17620453..17621194-chr11:17656903..17657523,2	K562	blood:
13	chr11:17619891..17621109-chr11:17743288..17744431,5	MCF-7	breast:
14	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
15	chr11:17620244..17621142-chr11:17752157..17753016,5	MCF-7	breast:
16	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
17	chr11:17620278..17621149-chr11:18000256..18000759,2	MCF-7	breast:
18	chr11:17620168..17621149-chr11:17752060..17752755,3	K562	blood:
19	chr11:17620215..17621250-chr11:17751773..17752935,12	MCF-7	breast:

No data

Extended variants
information (count: 759 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs757984	chr11:17619908-17619909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537329395	chr11:17619909-17619910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192514070	chr11:17619925-17619926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577203296	chr11:17619992-17619993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35011543	chr11:17619993-17619994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78877065	chr11:17619998-17619999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183178364	chr11:17620032-17620033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566587850	chr11:17620083-17620084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553062917	chr11:17620138-17620139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577580741	chr11:17620174-17620175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544958796	chr11:17620218-17620219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563112873	chr11:17620228-17620229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188601044	chr11:17620257-17620258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35306838	chr11:17620305-17620306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77251078	chr11:17620316-17620317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560754373	chr11:17620378-17620379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528233472	chr11:17620381-17620382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547505035	chr11:17620412-17620413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7112790	chr11:17620442-17620443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552212106	chr11:17620451-17620452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533246596	chr11:17620551-17620552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551788803	chr11:17620552-17620553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192766728	chr11:17620650-17620651	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371141860	chr11:17620669-17620670	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369559068	chr11:17620671-17620672	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537787084	chr11:17620699-17620700	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145874902	chr11:17620700-17620701	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567867741	chr11:17620708-17620709	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141724529	chr11:17620712-17620713	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570679881	chr11:17620726-17620727	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553122401	chr11:17620738-17620739	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577692862	chr11:17620750-17620751	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536610714	chr11:17620831-17620832	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544759752	chr11:17620859-17620860	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376916149	chr11:17620894-17620895	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138699238	chr11:17620967-17620968	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542524565	chr11:17620974-17620975	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141267323	chr11:17620986-17620987	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528295598	chr11:17621000-17621001	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540065763	chr11:17621011-17621012	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564916541	chr11:17621049-17621050	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11823125	chr11:17621068-17621069	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556183222	chr11:17621124-17621125	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551581733	chr11:17621163-17621164	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563702083	chr11:17621181-17621182	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117005078	chr11:17621218-17621219	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146929722	chr11:17621228-17621229	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147988190	chr11:17621251-17621252	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78811392	chr11:17621263-17621264	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547202957	chr11:17621305-17621306	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17616400-17621000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:17618600-17620600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:17620400-17620800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:17620400-17621600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:17620400-17628800	Weak transcription	Right Atrium	heart
6	chr11:17620600-17621000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:17620600-17621000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:17620800-17621000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr11:17620800-17621000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:17620800-17621000	Enhancers	Brain Cingulate Gyrus	brain
11	chr11:17620800-17622200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:17621000-17621200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:17621000-17624400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:17621200-17621400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:17621400-17622400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:17621400-17622600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:17621600-17622600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:17622000-17623600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr11:17622200-17623800	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:17622200-17625200	Enhancers	Fetal Muscle Leg	muscle
21	chr11:17622400-17623600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:17622400-17623600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:17622600-17622800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr11:17622600-17622800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr11:17622600-17622800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr11:17622600-17622800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr11:17622600-17623000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:17622600-17623000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:17622600-17623400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr11:17622600-17623400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr11:17622600-17623600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:17622600-17623600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:17622600-17623600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:17622600-17623600	Enhancers	HSMM	muscle
35	chr11:17622800-17623000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr11:17622800-17623600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:17622800-17623600	Enhancers	HSMMtube	muscle
38	chr11:17623400-17626000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:17623600-17627000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:17623600-17627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:17623800-17624000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr11:17624400-17625200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr11:17624400-17629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:17625600-17625800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr11:17625800-17626800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:17626400-17626600	Enhancers	Fetal Muscle Leg	muscle
47	chr11:17626600-17627400	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:17627000-17628400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:17627200-17628200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr11:17627400-17628400	Enhancers	Fetal Muscle Leg	muscle

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