Variant report

Variant	nsv545406
Chromosome Location	chr1:10915507-10935232
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:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10912236..10914687-chr1:10919102..10920834,2	K562	blood:
2	chr1:10752227..10753991-chr1:10926922..10928500,5	MCF-7	breast:
3	chr1:10834395..10836864-chr1:10924588..10926735,2	MCF-7	breast:
4	chr1:10923092..10926846-chr1:10929418..10932147,4	K562	blood:
5	chr1:10908264..10910893-chr1:10918893..10922550,4	K562	blood:
6	chr1:10914701..10916708-chr1:10923191..10926876,3	MCF-7	breast:
7	chr1:10489961..10490892-chr1:10926816..10927795,3	K562	blood:
8	chr1:10914701..10916708-chr1:10923191..10926876,3	MCF-7	breast:
9	chr1:10926420..10929831-chr1:10932404..10934606,3	K562	blood:
10	chr1:10919663..10923359-chr1:10925488..10928766,3	MCF-7	breast:
11	chr1:10562142..10564951-chr1:10926770..10929049,2	K562	blood:
12	chr1:10568670..10571119-chr1:10926842..10928478,2	K562	blood:
13	chr1:10754807..10756455-chr1:10925799..10928452,2	MCF-7	breast:
14	chr1:10590066..10590945-chr1:10927189..10927789,2	K562	blood:
15	chr1:10554756..10555464-chr1:10926875..10927459,2	K562	blood:
16	chr1:10919663..10923359-chr1:10925488..10928766,3	MCF-7	breast:
17	chr1:10895615..10898736-chr1:10923813..10928307,5	K562	blood:
18	chr1:10923927..10926846-chr1:10929418..10932147,3	K562	blood:
19	chr1:10927850..10929832-chr1:10934675..10937595,2	K562	blood:
20	chr1:10923092..10926846-chr1:10929418..10932147,4	K562	blood:
21	chr1:10927411..10929903-chr1:10960980..10963469,2	MCF-7	breast:
22	chr1:10931595..10935539-chr1:10959152..10962920,5	MCF-7	breast:
23	chr1:10574408..10575004-chr1:10926842..10927727,2	K562	blood:
24	chr1:10918685..10920467-chr1:10928857..10931525,2	K562	blood:
25	chr1:10911727..10913949-chr1:10927458..10930368,2	K562	blood:
26	chr1:10918685..10920467-chr1:10928857..10931525,2	K562	blood:
27	chr1:10588978..10590692-chr1:10934341..10936990,2	MCF-7	breast:
28	chr1:10925966..10930455-chr1:10932404..10937595,5	K562	blood:
29	chr1:10576160..10578872-chr1:10926632..10929593,2	MCF-7	breast:
30	chr1:10751694..10755124-chr1:10925813..10928871,3	MCF-7	breast:
31	chr1:10925966..10930455-chr1:10932404..10937595,5	K562	blood:
32	chr1:10567095..10568153-chr1:10926865..10927880,8	K562	blood:
33	chr1:10926964..10929247-chr1:10959901..10962873,4	MCF-7	breast:
34	chr1:10530427..10532577-chr1:10930271..10932190,2	K562	blood:
35	chr1:10926420..10929831-chr1:10932404..10934606,3	K562	blood:
36	chr1:10930308..10932056-chr1:10957466..10959792,2	MCF-7	breast:
37	chr1:10923927..10926846-chr1:10929418..10932147,3	K562	blood:
38	chr1:10892514..10895346-chr1:10924391..10927017,2	K562	blood:
39	chr1:10927850..10929832-chr1:10934675..10937595,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TARDBP-9	chr1:10925409-10925611	NONHSAT000869

No data

Variant related genes	Relation type
ENSG00000130940	chromatin interactions
ENSG00000251503	chromatin interactions
ENSG00000175279	chromatin interactions
ENSG00000160049	chromatin interactions
ENSG00000271989	chromatin interactions
ENSG00000142655	chromatin interactions

Extended variants
information (count: 803 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs667444	chr1:10915507-10915508	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538709511	chr1:10915529-10915530	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs570494652	chr1:10915546-10915547	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs542757717	chr1:10915570-10915571	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs148314429	chr1:10915583-10915584	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs548442748	chr1:10915609-10915610	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533390898	chr1:10915664-10915665	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537265389	chr1:10915675-10915676	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537015190	chr1:10915690-10915691	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552159058	chr1:10915722-10915723	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558373018	chr1:10915739-10915740	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs511730	chr1:10915740-10915741	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555515998	chr1:10915743-10915744	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374601627	chr1:10915794-10915795	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115501852	chr1:10915906-10915907	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75736805	chr1:10915966-10915967	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72643281	chr1:10915994-10915995	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116270249	chr1:10916026-10916027	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552733091	chr1:10916137-10916138	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146300575	chr1:10916138-10916139	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139556491	chr1:10916144-10916145	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555207547	chr1:10916171-10916172	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576364762	chr1:10916202-10916203	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113029523	chr1:10916216-10916217	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534479208	chr1:10916219-10916220	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543755991	chr1:10916233-10916234	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558689483	chr1:10916261-10916262	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12748591	chr1:10916285-10916286	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11589968	chr1:10916319-10916320	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532512113	chr1:10916343-10916344	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146161033	chr1:10916414-10916415	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140007282	chr1:10916428-10916429	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529871212	chr1:10916458-10916459	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554808917	chr1:10916498-10916499	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563551371	chr1:10916525-10916526	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372287647	chr1:10916534-10916535	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530710928	chr1:10916538-10916539	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552242246	chr1:10916565-10916566	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570444807	chr1:10916653-10916654	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs149815121	chr1:10916795-10916796	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs575375771	chr1:10916811-10916812	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112324992	chr1:10916821-10916822	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566155659	chr1:10916857-10916858	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189987905	chr1:10916866-10916867	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542865724	chr1:10916881-10916882	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554970063	chr1:10916935-10916936	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576721906	chr1:10916936-10916937	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs564820	chr1:10916942-10916943	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537337411	chr1:10916962-10916963	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558564303	chr1:10916977-10916978	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10912800-10916200	Weak transcription	Fetal Heart	heart
2	chr1:10912800-10917200	Weak transcription	Psoas Muscle	Psoas
3	chr1:10913000-10915600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:10913200-10916200	Weak transcription	Right Ventricle	heart
5	chr1:10914000-10920800	Weak transcription	Gastric	stomach
6	chr1:10915400-10918600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:10915600-10916600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:10915600-10919400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:10915800-10916800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:10916200-10918600	Enhancers	Fetal Heart	heart
11	chr1:10916200-10918600	Enhancers	Right Ventricle	heart
12	chr1:10916400-10917400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:10916600-10917000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:10916600-10917600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:10916600-10918400	Enhancers	HSMMtube	muscle
16	chr1:10916800-10917000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:10916800-10917400	Enhancers	Right Atrium	heart
18	chr1:10916800-10917600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:10917000-10917200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:10917000-10917200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr1:10917000-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:10917200-10917400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:10917200-10917600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:10917200-10917600	Bivalent Enhancer	NHEK	skin
25	chr1:10917200-10918600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:10917200-10918600	Enhancers	Esophagus	oesophagus
27	chr1:10917200-10918800	Enhancers	Psoas Muscle	Psoas
28	chr1:10917400-10919600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:10917400-10921600	Weak transcription	Right Atrium	heart
30	chr1:10917600-10918000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:10917600-10918200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:10918000-10918600	Enhancers	Left Ventricle	heart
33	chr1:10918000-10919000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:10918200-10918600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:10918200-10918800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:10918200-10919200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:10918200-10919800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:10918600-10919000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:10918600-10920400	Weak transcription	Right Ventricle	heart
40	chr1:10918600-10920600	Weak transcription	Fetal Heart	heart
41	chr1:10918600-10920600	Weak transcription	Left Ventricle	heart
42	chr1:10918600-10923000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:10918600-10926600	Weak transcription	Esophagus	oesophagus
44	chr1:10918800-10920600	Weak transcription	Psoas Muscle	Psoas
45	chr1:10918800-10920800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:10919000-10920800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:10919600-10920000	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr1:10919600-10922200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:10919800-10920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:10919800-10920600	Enhancers	HUES48 Cell Line	embryonic stem cell

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