Variant report

Variant	nsv972043
Chromosome Location	chr11:73492210-73493193
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:73433236..73435821-chr11:73490652..73492297,2	MCF-7	breast:
2	chr11:73451087..73453360-chr11:73490800..73493155,2	MCF-7	breast:
3	chr11:73490742..73492962-chr11:73586410..73589889,4	MCF-7	breast:
4	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
5	chr11:73470195..73474536-chr11:73485650..73492680,30	MCF-7	breast:
6	chr11:73470571..73474243-chr11:73488792..73493229,17	K562	blood:
7	chr11:73491571..73493829-chr11:73529458..73531127,2	K562	blood:
8	chr11:73469555..73474700-chr11:73488749..73494585,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175575	chromatin interactions
ENSG00000256034	chromatin interactions
ENSG00000255928	chromatin interactions
ENSG00000181924	chromatin interactions
ENSG00000175582	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76945959	chr11:73492323-73492324	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs375317242	chr11:73492338-73492339	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs367908751	chr11:73492360-73492361	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs536354048	chr11:73492397-73492398	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs375056381	chr11:73492417-73492418	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs546711828	chr11:73492468-73492469	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs11603037	chr11:73492504-73492505	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs184068325	chr11:73492513-73492514	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs2511261	chr11:73492563-73492564	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs138440127	chr11:73492567-73492568	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs188624359	chr11:73492616-73492617	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs192742888	chr11:73492628-73492629	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs182159631	chr11:73492703-73492704	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs557524373	chr11:73492707-73492708	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs374597759	chr11:73492716-73492717	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs187262615	chr11:73492786-73492787	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs116866431	chr11:73492796-73492797	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs375940996	chr11:73492818-73492819	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs77503008	chr11:73492837-73492838	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs11605005	chr11:73492932-73492933	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs11605006	chr11:73492942-73492943	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537213776	chr11:73492997-73492998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149590267	chr11:73493023-73493024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191716555	chr11:73493151-73493152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184689402	chr11:73493164-73493165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	17142309	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73491000-73494600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:73491000-73495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:73491000-73498400	Weak transcription	Esophagus	oesophagus
4	chr11:73491000-73498600	Weak transcription	Aorta	Aorta
5	chr11:73491200-73494200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:73491200-73494200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:73491200-73494400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:73491200-73494800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:73491200-73495200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:73491200-73497800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:73491200-73498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:73491200-73498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:73491200-73498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:73491200-73498000	Weak transcription	A549	lung
15	chr11:73491200-73498000	Weak transcription	HSMM	muscle
16	chr11:73491200-73498200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:73491200-73498200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:73491200-73498400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:73491200-73498400	Weak transcription	Thymus	Thymus
20	chr11:73491200-73498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:73491400-73494000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:73491400-73494200	Weak transcription	HepG2	liver
23	chr11:73491400-73494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:73491400-73494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:73491400-73495000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:73491400-73495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:73491400-73495000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:73491400-73495000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:73491400-73495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:73491400-73495200	Weak transcription	NHEK	skin
31	chr11:73491400-73495400	Weak transcription	Fetal Thymus	thymus
32	chr11:73491400-73498200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:73491400-73498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:73491400-73498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:73491400-73498200	Weak transcription	Adipose Nuclei	Adipose
36	chr11:73491400-73498400	Weak transcription	Primary T cells from cord blood	blood
37	chr11:73491400-73498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:73491600-73494800	Weak transcription	Hela-S3	cervix
39	chr11:73491800-73494800	Weak transcription	Dnd41	blood
40	chr11:73491800-73498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:73492200-73494200	Weak transcription	K562	blood
42	chr11:73492200-73495400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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