Variant report

Variant	nsv469938
Chromosome Location	chr11:17615203-17656148
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
2	chr11:17620278..17621149-chr11:18000256..18000759,2	MCF-7	breast:
3	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
4	chr11:17622892..17623600-chr11:17752018..17752807,2	MCF-7	breast:
5	chr11:17620264..17621016-chr11:17999920..18001368,5	MCF-7	breast:
6	chr11:17620215..17621250-chr11:17751773..17752935,12	MCF-7	breast:
7	chr11:17612630..17615852-chr11:17618211..17621966,5	K562	blood:
8	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:
9	chr11:17605717..17608224-chr11:17613045..17615760,2	K562	blood:
10	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
11	chr11:17620217..17621179-chr11:17742829..17744247,6	MCF-7	breast:
12	chr11:17619891..17621109-chr11:17743288..17744431,5	MCF-7	breast:
13	chr11:17649369..17651435-chr11:17694889..17696565,2	MCF-7	breast:
14	chr11:17622678..17623570-chr11:17743313..17743816,2	MCF-7	breast:
15	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
16	chr11:17614076..17616630-chr11:18008858..18011445,2	K562	blood:
17	chr11:17622618..17623441-chr11:17752027..17752742,2	K562	blood:
18	chr11:17612630..17615852-chr11:17618211..17621966,5	K562	blood:
19	chr11:17405649..17406157-chr11:17617828..17618472,2	MCF-7	breast:
20	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
21	chr11:17652629..17655545-chr17:62222984..62224755,2	MCF-7	breast:
22	chr11:17613851..17615852-chr11:17618266..17620129,2	K562	blood:
23	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:
24	chr11:17614764..17616023-chr11:17751704..17752684,3	MCF-7	breast:
25	chr11:17620453..17621194-chr11:17656903..17657523,2	K562	blood:
26	chr11:17620244..17621142-chr11:17752157..17753016,5	MCF-7	breast:
27	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
28	chr11:17622422..17624117-chr11:17750393..17752396,2	MCF-7	breast:
29	chr11:17620168..17621149-chr11:17752060..17752755,3	K562	blood:
30	chr11:17613851..17615852-chr11:17618266..17620129,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199753	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000129158	chromatin interactions

Extended variants
information (count: 1226 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1226 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11024333	chr11:17615203-17615204	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562773231	chr11:17615236-17615237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56359117	chr11:17615244-17615245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs875696	chr11:17615249-17615250	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs528406185	chr11:17615280-17615281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540127546	chr11:17615336-17615337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564786276	chr11:17615372-17615373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192198327	chr11:17615423-17615424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs875695	chr11:17615424-17615425	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570099734	chr11:17615430-17615431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530832371	chr11:17615503-17615504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549384890	chr11:17615540-17615541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11024334	chr11:17615556-17615557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535379289	chr11:17615580-17615581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12792504	chr11:17615586-17615587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7936324	chr11:17615604-17615605	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539192142	chr11:17615605-17615606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571215839	chr11:17615640-17615641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7936354	chr11:17615655-17615656	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146781877	chr11:17615656-17615657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368239137	chr11:17615691-17615692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542345465	chr11:17615695-17615696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184364246	chr11:17615705-17615706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7936484	chr11:17615728-17615729	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540139833	chr11:17615760-17615761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117106806	chr11:17615771-17615772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532190973	chr11:17615793-17615794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188862491	chr11:17615848-17615849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562520422	chr11:17615859-17615860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536422673	chr11:17615881-17615882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192896299	chr11:17615913-17615914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549198221	chr11:17615939-17615940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374481989	chr11:17615940-17615941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528446271	chr11:17615960-17615961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140475093	chr11:17615994-17615995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7938781	chr11:17616035-17616036	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538944996	chr11:17616068-17616069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184499760	chr11:17616088-17616089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573014419	chr11:17616127-17616128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534085372	chr11:17616136-17616137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145649720	chr11:17616167-17616168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7117215	chr11:17616201-17616202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534854951	chr11:17616233-17616234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146624160	chr11:17616248-17616249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554198370	chr11:17616256-17616257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572515098	chr11:17616266-17616267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539809117	chr11:17616268-17616269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558447381	chr11:17616269-17616270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576755383	chr11:17616271-17616272	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117788160	chr11:17616289-17616290	Inactive region	Chromatin interactive region	1 gene(s)	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:90 , 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	chr11:17617800-17618400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr11:17618600-17620600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:17619400-17619800	Enhancers	Fetal Heart	heart
5	chr11:17620400-17620800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:17620400-17621600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr11:17620400-17628800	Weak transcription	Right Atrium	heart
8	chr11:17620600-17621000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr11:17620600-17621000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:17620800-17621000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr11:17620800-17621000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:17620800-17621000	Enhancers	Brain Cingulate Gyrus	brain
13	chr11:17620800-17622200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:17621000-17621200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:17621000-17624400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:17621200-17621400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:17621400-17622400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:17621400-17622600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:17621600-17622600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:17622000-17623600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr11:17622200-17623800	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:17622200-17625200	Enhancers	Fetal Muscle Leg	muscle
23	chr11:17622400-17623600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:17622400-17623600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:17622600-17622800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr11:17622600-17622800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr11:17622600-17622800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr11:17622600-17622800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:17622600-17623000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:17622600-17623000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:17622600-17623400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr11:17622600-17623400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr11:17622600-17623600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:17622600-17623600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:17622600-17623600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:17622600-17623600	Enhancers	HSMM	muscle
37	chr11:17622800-17623000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
38	chr11:17622800-17623600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:17622800-17623600	Enhancers	HSMMtube	muscle
40	chr11:17623400-17626000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:17623600-17627000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:17623600-17627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:17623800-17624000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr11:17624400-17625200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr11:17624400-17629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:17625600-17625800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:17625800-17626800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:17626400-17626600	Enhancers	Fetal Muscle Leg	muscle
49	chr11:17626600-17627400	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:17627000-17628400	Enhancers	Skeletal Muscle Male	skeletal muscle

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