Variant report

Variant	nsv555640
Chromosome Location	chr11:85456703-85464922
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85457955..85460944-chr11:85541331..85543778,2	MCF-7	breast:
2	chr11:85434439..85436977-chr11:85459317..85462236,2	MCF-7	breast:
3	chr11:85459647..85464805-chr11:85466382..85469125,4	K562	blood:
4	chr11:85460295..85462125-chr11:85496572..85498601,2	MCF-7	breast:
5	chr11:85462033..85463782-chr11:85520601..85522192,2	MCF-7	breast:
6	chr11:85404945..85406929-chr11:85457970..85459498,2	MCF-7	breast:
7	chr11:85452340..85455544-chr11:85456750..85459606,3	K562	blood:
8	chr11:85456348..85458453-chr11:85459854..85462602,2	K562	blood:
9	chr11:85459647..85463395-chr11:85466382..85468116,3	K562	blood:
10	chr11:85459682..85462503-chr11:85466829..85468700,3	MCF-7	breast:
11	chr11:85456354..85459698-chr11:85460209..85463531,4	MCF-7	breast:
12	chr11:85457148..85461266-chr11:85520193..85525185,6	MCF-7	breast:
13	chr11:85449141..85453316-chr11:85456820..85460896,4	MCF-7	breast:
14	chr11:85461323..85463573-chr11:85539177..85540857,2	MCF-7	breast:
15	chr11:85456348..85458453-chr11:85459854..85462602,2	K562	blood:
16	chr11:85453675..85456598-chr11:85463651..85465546,2	MCF-7	breast:
17	chr11:85434029..85438059-chr11:85455702..85460015,5	MCF-7	breast:
18	chr11:85460961..85463869-chr11:85465217..85468287,3	MCF-7	breast:
19	chr11:85456897..85461654-chr11:85539528..85543738,6	MCF-7	breast:
20	chr11:85456882..85459698-chr17:57916750..57918708,2	MCF-7	breast:
21	chr11:85453893..85455528-chr11:85457587..85459184,2	MCF-7	breast:
22	chr11:85456923..85462918-chr11:85517727..85523482,9	MCF-7	breast:
23	chr11:85463747..85466661-chr11:85473937..85475998,2	MCF-7	breast:
24	chr11:85456354..85459698-chr11:85460209..85463531,4	MCF-7	breast:
25	chr11:85374586..85376226-chr11:85456033..85458381,2	K562	blood:
26	chr11:85461055..85463214-chr11:85468718..85471214,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137501	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000137504	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs647912	chr11:85456703-85456704	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377404316	chr11:85456723-85456724	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370502911	chr11:85456725-85456726	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544117089	chr11:85456726-85456727	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139351251	chr11:85456733-85456734	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559241179	chr11:85456737-85456738	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs143167131	chr11:85456761-85456762	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200469060	chr11:85456774-85456775	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368330801	chr11:85456797-85456798	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375272435	chr11:85456823-85456824	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541571315	chr11:85456825-85456826	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559761222	chr11:85456837-85456838	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2304343	chr11:85456849-85456850	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs542170248	chr11:85456886-85456887	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs563527022	chr11:85456976-85456977	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs530883143	chr11:85456998-85456999	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs541287198	chr11:85457003-85457004	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552033304	chr11:85457009-85457010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs112180850	chr11:85457027-85457028	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570349078	chr11:85457115-85457116	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs115510784	chr11:85457132-85457133	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs546310820	chr11:85457148-85457149	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184359706	chr11:85457168-85457169	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs143365238	chr11:85457202-85457203	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs188891773	chr11:85457222-85457223	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs568755372	chr11:85457261-85457262	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs653559	chr11:85457364-85457365	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs368343268	chr11:85457376-85457377	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs193114509	chr11:85457436-85457437	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs146727735	chr11:85457454-85457455	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs541608130	chr11:85457494-85457495	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541458471	chr11:85457520-85457521	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs35539375	chr11:85457544-85457545	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370945218	chr11:85457556-85457557	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs563315286	chr11:85457586-85457587	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs574919935	chr11:85457682-85457683	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs530583119	chr11:85457704-85457705	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs375482412	chr11:85457720-85457721	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs530799340	chr11:85457726-85457727	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs545919650	chr11:85457827-85457828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs140368442	chr11:85457854-85457855	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs368781112	chr11:85457900-85457901	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs145581122	chr11:85457901-85457902	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs528273429	chr11:85457902-85457903	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs565453470	chr11:85457913-85457914	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs546732874	chr11:85457987-85457988	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs7946866	chr11:85458045-85458046	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532579166	chr11:85458051-85458052	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs681044	chr11:85458076-85458077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531081370	chr11:85458096-85458097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	18438408	CNVD
Cancer	17440070	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
3	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:85432000-85460800	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:85437600-85459800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:85437800-85458000	Weak transcription	HSMM	muscle
8	chr11:85441600-85460200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:85442200-85461000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:85444400-85461600	Weak transcription	Lung	lung
11	chr11:85445600-85459800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:85445600-85460200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:85447400-85459200	Weak transcription	NH-A	brain
14	chr11:85447400-85459400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:85447600-85459400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:85448000-85463600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:85448000-85480600	Weak transcription	Fetal Stomach	stomach
18	chr11:85448200-85460400	Weak transcription	NHLF	lung
19	chr11:85449200-85459800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:85449200-85478400	Weak transcription	Right Ventricle	heart
21	chr11:85451400-85457600	Enhancers	Fetal Intestine Small	intestine
22	chr11:85452000-85462600	Weak transcription	HSMMtube	muscle
23	chr11:85452400-85459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:85452400-85459400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:85452400-85461800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:85452800-85463000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:85453000-85460000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:85453000-85471000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:85454000-85458600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:85454200-85459000	Weak transcription	A549	lung
31	chr11:85454200-85461000	Weak transcription	Fetal Lung	lung
32	chr11:85454200-85462600	Weak transcription	Left Ventricle	heart
33	chr11:85454800-85457400	Enhancers	Colonic Mucosa	Colon
34	chr11:85455000-85470800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:85455600-85458800	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:85455600-85459200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:85455800-85459000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:85455800-85461800	Enhancers	Stomach Mucosa	stomach
39	chr11:85456000-85456800	Genic enhancers	Primary T cells from cord blood	blood
40	chr11:85456000-85458600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:85456200-85457600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:85456200-85458200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr11:85456200-85458600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:85456200-85458800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:85456200-85458800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr11:85456200-85460600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:85456400-85457000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:85456400-85457000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:85456400-85457200	Bivalent Enhancer	Fetal Thymus	thymus
50	chr11:85456400-85457200	Enhancers	HUVEC	blood vessel

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