Variant report

Variant	nsv975987
Chromosome Location	chr11:121231771-121233603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:121231844-121231848	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr11:121233401-121233418	GM13976	blood:	n/a	n/a
3	CTCF	chr11:121232170-121232252	GM10248	blood:	n/a	n/a
4	CTCF	chr11:121232656-121232685	Kidney_OC	kidney:	n/a	n/a
5	POLR2A	chr11:121233595-121233977	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:121233498-121234083	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:121233599-121233979	A549	lung:	n/a	n/a
8	POLR2A	chr11:121233571-121233974	Gliobla	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:121232763-121232813	HL-60	blood:	n/a
2	chr11:121232763-121232813	GM12878	blood:	n/a
3	chr11:121232763-121232813	AG09319	gingival:	n/a
4	chr11:121232763-121232813	BJ	skin:	n/a
5	chr11:121232763-121232813	HAEpiC	amniotic membrane:	n/a
6	chr11:121232763-121232813	AG09309	skin:	n/a
7	chr11:121232763-121232813	SK-N-MC	brain:	n/a
8	chr11:121232763-121232813	Hepatocyte	liver:	n/a
9	chr11:121232763-121232813	Jurkat	blood:	n/a
10	chr11:121232763-121232813	HIPEpiC	eye:	n/a
11	chr11:121232763-121232813	NT2-D1	testis:	n/a
12	chr11:121232763-121232813	HCT-116	colon:	n/a
13	chr11:121232763-121232813	HEEpiC	esophagus:	n/a
14	chr11:121232763-121232813	RPTEC	kidney:	n/a
15	chr11:121232763-121232813	BE2_C	brain:	n/a
16	chr11:121232763-121232813	Caco-2	colon:	n/a
17	chr11:121232763-121232813	GM12892	blood:	n/a
18	chr11:121232763-121232813	NB4	blood:	n/a
19	chr11:121232763-121232813	GM12891	blood:	n/a
20	chr11:121232763-121232813	AG10803	skin:	n/a
21	chr11:121232763-121232813	AG04450	lung:	fetal
22	chr11:121232763-121232813	GM19239	blood:	n/a
23	chr11:121232763-121232813	SKMC	muscle:	n/a
24	chr11:121232763-121232813	HCPEpiC	choroid plexus:	n/a
25	chr11:121232763-121232813	HCM	heart:	n/a
26	chr11:121232763-121232813	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:121232763-121232813	PrEC	prostate:	n/a
28	chr11:121232763-121232813	A549	lung:	n/a
29	chr11:121232763-121232813	IMR90	lung:	fetal
30	chr11:121232763-121232813	PANC-1	pancreas:	n/a
31	chr11:121232763-121232813	NHBE	bronchial:	n/a
32	chr11:121232763-121232813	AG04449	skin:	fetal
33	chr11:121232763-121232813	LNCaP	prostate:	n/a
34	chr11:121232763-121232813	HUVEC	blood vessel:	n/a
35	chr11:121232763-121232813	HNPCEpiC	eye:	n/a
36	chr11:121232763-121232813	MCF-7	breast:	n/a
37	chr11:121232763-121232813	HRE	kidney:	n/a
38	chr11:121232763-121232813	HRPEpiC	eye:	n/a
39	chr11:121232763-121232813	MCF10A-Er-Src	breast:	n/a
40	chr11:121232763-121232813	HRCEpiC	kidney:	n/a
41	chr11:121232763-121232813	H1-hESC	embryonic stem cell:	embryo
42	chr11:121232763-121232813	HCF	heart:	n/a
43	chr11:121232763-121232813	ECC-1	luminal epithelium:	n/a
44	chr11:121232763-121232813	Hela-S3	cervix:	n/a
45	chr11:121232763-121232813	ProgFib	skin:	n/a
46	chr11:121232763-121232813	NHDF-neo	bronchial:	n/a
47	chr11:121232763-121232813	PFSK-1	brain:	n/a
48	chr11:121232763-121232813	CMK	blood:	n/a
49	chr11:121232763-121232813	SAEC	small airway:	n/a
50	chr11:121232763-121232813	HEK293	kidney:	embryo

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLID-9	chr11:121232189-121232437	NONHSAT024747
2	lnc-BLID-9	chr11:121232120-121232178	NONHSAT024747
3	lnc-BLID-9	chr11:121231367-121232052	NONHSAT024747

No data

Variant related genes	Relation type
BMPR1APS2	TF binding region
BMPR1APS2	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537444788	chr11:121231802-121231803	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs555699281	chr11:121231806-121231807	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs141838645	chr11:121231813-121231814	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs535774732	chr11:121231918-121231919	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs554028717	chr11:121231920-121231921	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs61903103	chr11:121231944-121231945	Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
7	rs572568922	chr11:121232017-121232018	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs61903104	chr11:121232034-121232035	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs192159671	chr11:121232043-121232044	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs143663132	chr11:121232095-121232096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61903105	chr11:121232136-121232137	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs562113740	chr11:121232165-121232166	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574058809	chr11:121232186-121232187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542176917	chr11:121232188-121232189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139652074	chr11:121232189-121232190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs527514342	chr11:121232207-121232208	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552301584	chr11:121232288-121232289	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs111290702	chr11:121232296-121232297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs531475585	chr11:121232324-121232325	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549461113	chr11:121232400-121232401	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs567753541	chr11:121232410-121232411	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs535049567	chr11:121232507-121232508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547707577	chr11:121232533-121232534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61903106	chr11:121232535-121232536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370975812	chr11:121232574-121232575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539657285	chr11:121232585-121232586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71486372	chr11:121232599-121232600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202024547	chr11:121232616-121232617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71486373	chr11:121232630-121232631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576560412	chr11:121232643-121232644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537572673	chr11:121232652-121232653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555879639	chr11:121232665-121232666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61903107	chr11:121232681-121232682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541406173	chr11:121232701-121232702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560189830	chr11:121232726-121232727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572263095	chr11:121232729-121232730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113292893	chr11:121232732-121232733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200308800	chr11:121232746-121232747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375495344	chr11:121232771-121232772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4936621	chr11:121232811-121232812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372985107	chr11:121232814-121232815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4936622	chr11:121232871-121232872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs531389622	chr11:121232876-121232877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4936623	chr11:121232886-121232887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs71473199	chr11:121232936-121232937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3893899	chr11:121232937-121232938	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs2230177	chr11:121233018-121233019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540884818	chr11:121233032-121233033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528862417	chr11:121233061-121233062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546949999	chr11:121233076-121233077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121224200-121236000	Weak transcription	Fetal Brain Female	brain
2	chr11:121230800-121234200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:121230800-121249800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:121231000-121235800	Weak transcription	Fetal Brain Male	brain
5	chr11:121231000-121238000	Weak transcription	Right Atrium	heart
6	chr11:121233600-121234000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:121233600-121234000	Active TSS	HSMMtube	muscle

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