Variant report

Variant	nsv972046
Chromosome Location	chr11:74629931-74632251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:74631871-74631996	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:74630240-74630390	GM06990	blood:	n/a	n/a
3	POLR2A	chr11:74632007-74632360	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74627234..74630197-chr11:74631970..74635278,5	K562	blood:
2	chr11:74631440..74633367-chr11:74659822..74661525,2	MCF-7	breast:
3	chr11:74627234..74630197-chr11:74631970..74635278,5	K562	blood:
4	chr11:74624254..74626945-chr11:74627904..74632353,5	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPCS2-3	chr11:74630578-74630856	NONHSAT022966
2	lnc-SPCS2-3	chr11:74630632-74631010	NONHSAT022968
3	lnc-SPCS2-3	chr11:74630578-74630993	NONHSAT022962
4	lnc-SPCS2-3	chr11:74630578-74631067	NONHSAT022967
5	lnc-SPCS2-3	chr11:74629874-74630070	NONHSAT022967
6	lnc-SPCS2-3	chr11:74630578-74631272	NONHSAT022965

No data

Variant related genes	Relation type
ENSG00000241170	TF binding region
ENSG00000241170	chromatin interactions
ENSG00000118363	chromatin interactions
ENSG00000166435	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185468707	chr11:74629961-74629962	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs530112379	chr11:74629998-74629999	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs190875506	chr11:74630024-74630025	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs566938549	chr11:74630148-74630149	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183891483	chr11:74630201-74630202	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367620340	chr11:74630218-74630219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188555207	chr11:74630224-74630225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536909175	chr11:74630235-74630236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372849649	chr11:74630246-74630247	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529249	chr11:74630253-74630254	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs567269427	chr11:74630257-74630258	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572432381	chr11:74630328-74630329	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73496930	chr11:74630329-74630330	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552729295	chr11:74630333-74630334	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75192308	chr11:74630367-74630368	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540132884	chr11:74630377-74630378	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11607203	chr11:74630497-74630498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375035009	chr11:74630532-74630533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150566073	chr11:74630557-74630558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35332853	chr11:74630618-74630619	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs575911782	chr11:74630623-74630624	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs544864714	chr11:74630692-74630693	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs369260015	chr11:74630707-74630708	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs191653595	chr11:74630725-74630726	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs540597205	chr11:74630735-74630736	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs183809134	chr11:74630769-74630770	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs543913152	chr11:74630846-74630847	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs559616776	chr11:74630879-74630880	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs562199280	chr11:74630947-74630948	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs532606383	chr11:74630960-74630961	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs372689068	chr11:74631004-74631005	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs602411	chr11:74631050-74631051	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	mRNA abundance
33	rs55989441	chr11:74631052-74631053	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs552402343	chr11:74631061-74631062	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs58079323	chr11:74631068-74631069	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs571064665	chr11:74631087-74631088	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs147861886	chr11:74631146-74631147	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs550401300	chr11:74631157-74631158	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs142337217	chr11:74631194-74631195	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs186932412	chr11:74631207-74631208	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs377032325	chr11:74631220-74631221	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs545552609	chr11:74631224-74631225	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs552897875	chr11:74631235-74631236	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs566353995	chr11:74631245-74631246	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs117224196	chr11:74631248-74631249	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs551569986	chr11:74631260-74631261	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs149780939	chr11:74631625-74631626	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs191877606	chr11:74631632-74631633	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs528016831	chr11:74631643-74631644	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs549696907	chr11:74631665-74631666	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74588400-74630600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr11:74588400-74636000	Weak transcription	NHLF	lung
3	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
4	chr11:74607600-74637400	Weak transcription	Pancreas	Pancrea
5	chr11:74612800-74634000	Weak transcription	Psoas Muscle	Psoas
6	chr11:74613400-74632600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:74613800-74637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:74614600-74633600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:74615000-74636200	Weak transcription	A549	lung
10	chr11:74615200-74632600	Strong transcription	Liver	Liver
11	chr11:74615200-74637200	Weak transcription	HMEC	breast
12	chr11:74615800-74633600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:74615800-74644800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:74616000-74634200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr11:74616000-74634800	Strong transcription	Fetal Intestine Large	intestine
16	chr11:74616200-74634000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:74616400-74633600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:74616400-74634400	Strong transcription	Primary T cells from cord blood	blood
19	chr11:74616400-74646000	Weak transcription	Spleen	Spleen
20	chr11:74616400-74656200	Weak transcription	Stomach Mucosa	stomach
21	chr11:74616600-74632600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:74616600-74632600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:74617000-74631800	Weak transcription	HUVEC	blood vessel
24	chr11:74617200-74630000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:74617200-74635200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:74617400-74648200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:74618000-74659600	Weak transcription	Esophagus	oesophagus
28	chr11:74618400-74653800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:74619200-74639800	Weak transcription	K562	blood
30	chr11:74620000-74646200	Weak transcription	Right Ventricle	heart
31	chr11:74620400-74659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:74620600-74631600	Weak transcription	Fetal Heart	heart
33	chr11:74621200-74634800	Strong transcription	Primary B cells from cord blood	blood
34	chr11:74622400-74633000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:74622800-74633000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:74623800-74632400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:74624200-74643200	Weak transcription	HSMMtube	muscle
38	chr11:74624600-74632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:74624600-74632800	Strong transcription	Thymus	Thymus
40	chr11:74625400-74633000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:74625400-74634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:74625600-74632200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:74625600-74633000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:74625800-74630800	Strong transcription	Fetal Lung	lung
45	chr11:74625800-74633000	Strong transcription	Ovary	ovary
46	chr11:74625800-74633400	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:74626000-74632200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:74626000-74632400	Strong transcription	Adipose Nuclei	Adipose
49	chr11:74626200-74632800	Strong transcription	Placenta	Placenta
50	chr11:74626200-74633000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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