Variant report

Variant	nsv897024
Chromosome Location	chr11:17617468-17692011
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:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17622618..17623441-chr11:17752027..17752742,2	K562	blood:
2	chr11:17620264..17621016-chr11:17999920..18001368,5	MCF-7	breast:
3	chr11:17620217..17621179-chr11:17742829..17744247,6	MCF-7	breast:
4	chr11:17658918..17660836-chr11:17665440..17668031,2	MCF-7	breast:
5	chr11:17613851..17615852-chr11:17618266..17620129,2	K562	blood:
6	chr11:17622892..17623600-chr11:17752018..17752807,2	MCF-7	breast:
7	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:
8	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
9	chr11:17620168..17621149-chr11:17752060..17752755,3	K562	blood:
10	chr11:17619891..17621109-chr11:17743288..17744431,5	MCF-7	breast:
11	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
12	chr11:17674426..17676272-chr11:17704010..17706690,2	K562	blood:
13	chr11:17658918..17660836-chr11:17665440..17668031,2	MCF-7	breast:
14	chr11:17652629..17655545-chr17:62222984..62224755,2	MCF-7	breast:
15	chr11:17405649..17406157-chr11:17617828..17618472,2	MCF-7	breast:
16	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
17	chr11:17658237..17658957-chr11:49872663..49873515,2	MCF-7	breast:
18	chr11:17666374..17668800-chr11:17671992..17673793,2	K562	blood:
19	chr11:17677366..17679663-chr11:17682918..17684836,2	K562	blood:
20	chr11:17622422..17624117-chr11:17750393..17752396,2	MCF-7	breast:
21	chr11:17666374..17668800-chr11:17671992..17673793,2	K562	blood:
22	chr11:17620215..17621250-chr11:17751773..17752935,12	MCF-7	breast:
23	chr11:17620453..17621194-chr11:17656903..17657523,2	K562	blood:
24	chr11:17620244..17621142-chr11:17752157..17753016,5	MCF-7	breast:
25	chr11:17661202..17663655-chr11:17664754..17666769,2	MCF-7	breast:
26	chr11:17622678..17623570-chr11:17743313..17743816,2	MCF-7	breast:
27	chr11:17649369..17651435-chr11:17694889..17696565,2	MCF-7	breast:
28	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
29	chr11:17677366..17679663-chr11:17682918..17684836,2	K562	blood:
30	chr11:17661202..17663655-chr11:17664754..17666769,2	MCF-7	breast:
31	chr11:17620278..17621149-chr11:18000256..18000759,2	MCF-7	breast:
32	chr11:17612630..17615852-chr11:17618211..17621966,5	K562	blood:
33	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
34	chr11:17620453..17621194-chr11:17656903..17657523,2	K562	blood:
35	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
36	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USH1C-1	chr11:17673394-17673887	l_441_chr11:17673393-17675099_testes
2	lnc-USH1C-1	chr11:17674942-17675179	l_441_chr11:17673393-17675099_testes

No data

Variant related genes	Relation type
ENSG00000266402	chromatin interactions
ENSG00000199753	chromatin interactions

Extended variants
information (count: 2138 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11820576	chr11:17617468-17617469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117364846	chr11:17617474-17617475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527830494	chr11:17617475-17617476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551862127	chr11:17617553-17617554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570415168	chr11:17617559-17617560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149548384	chr11:17617593-17617594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7122875	chr11:17617599-17617600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568040033	chr11:17617603-17617604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548446522	chr11:17617606-17617607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535798729	chr11:17617607-17617608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566656271	chr11:17617613-17617614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113275496	chr11:17617711-17617712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189137404	chr11:17617718-17617719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200989642	chr11:17617720-17617721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375364422	chr11:17617726-17617727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577296384	chr11:17617728-17617729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117718159	chr11:17617738-17617739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568562249	chr11:17617776-17617777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574488747	chr11:17617845-17617846	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs542120673	chr11:17617861-17617862	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs560371639	chr11:17617862-17617863	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs529276569	chr11:17617881-17617882	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs527892619	chr11:17617888-17617889	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs546050020	chr11:17617897-17617898	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs374239489	chr11:17617922-17617923	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs369974178	chr11:17617927-17617928	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs199625923	chr11:17617947-17617948	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs181690674	chr11:17618008-17618009	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs556244297	chr11:17618060-17618061	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs531349293	chr11:17618077-17618078	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs549848526	chr11:17618117-17618118	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs537521833	chr11:17618169-17618170	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs185818692	chr11:17618197-17618198	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs368109999	chr11:17618215-17618216	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs191311533	chr11:17618242-17618243	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs557426441	chr11:17618245-17618246	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs7126777	chr11:17618298-17618299	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs148673136	chr11:17618299-17618300	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs183182785	chr11:17618325-17618326	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs199997098	chr11:17618357-17618358	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs553241203	chr11:17618440-17618441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551320755	chr11:17618443-17618444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569822555	chr11:17618448-17618449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538001611	chr11:17618485-17618486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143393149	chr11:17618490-17618491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560339163	chr11:17618536-17618537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574498870	chr11:17618537-17618538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116947228	chr11:17618546-17618547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554063575	chr11:17618555-17618556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572431509	chr11:17618567-17618568	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:200 , 50 per page) page: 1 2 3 4

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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