Variant report

Variant	nsv975103
Chromosome Location	chr11:46962682-46965005
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	chr11:46956974..46959931-chr11:46964040..46966501,2	MCF-7	breast:
2	chr11:46960359..46964188-chr11:46967085..46970047,4	MCF-7	breast:
3	chr11:46964914..46967746-chr11:46969560..46971972,2	K562	blood:
4	chr11:46961899..46965031-chr11:46965080..46968958,4	K562	blood:
5	chr11:46958296..46961235-chr11:46961375..46963736,2	K562	blood:
6	chr11:46963455..46964222-chr11:47006540..47007193,2	MCF-7	breast:
7	chr11:46957071..46960336-chr11:46960862..46965955,9	MCF-7	breast:
8	chr11:46957787..46959806-chr11:46961787..46963719,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149179	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556221824	chr11:46962785-46962786	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546837041	chr11:46962786-46962787	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184246391	chr11:46962819-46962820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11039032	chr11:46962825-46962826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374246839	chr11:46962939-46962940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368865342	chr11:46962971-46962972	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552881064	chr11:46962976-46962977	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568254143	chr11:46962977-46962978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569606092	chr11:46963019-46963020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180982256	chr11:46963028-46963029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548586455	chr11:46963036-46963037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2035067	chr11:46963196-46963197	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374781222	chr11:46963217-46963218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368700741	chr11:46963218-46963219	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541391984	chr11:46963353-46963354	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534312476	chr11:46963391-46963392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572413817	chr11:46963394-46963395	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35445868	chr11:46963485-46963486	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553889966	chr11:46963544-46963545	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566329494	chr11:46963626-46963627	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143240371	chr11:46963720-46963721	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558394347	chr11:46963722-46963723	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575513320	chr11:46963785-46963786	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543812186	chr11:46963847-46963848	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554558607	chr11:46963938-46963939	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183773217	chr11:46963964-46963965	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142082133	chr11:46963993-46963994	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560316971	chr11:46964047-46964048	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532739174	chr11:46964071-46964072	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546437588	chr11:46964094-46964095	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190554031	chr11:46964146-46964147	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12274845	chr11:46964160-46964161	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368836186	chr11:46964193-46964194	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548250520	chr11:46964200-46964201	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182432769	chr11:46964271-46964272	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75060109	chr11:46964279-46964280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547466403	chr11:46964351-46964352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186994860	chr11:46964379-46964380	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371730649	chr11:46964403-46964404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538416598	chr11:46964493-46964494	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527326723	chr11:46964498-46964499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142587010	chr11:46964536-46964537	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538132750	chr11:46964590-46964591	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191968209	chr11:46964614-46964615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574351196	chr11:46964648-46964649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34559362	chr11:46964671-46964672	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540264427	chr11:46964678-46964679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112687494	chr11:46964713-46964714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553868955	chr11:46964722-46964723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577036429	chr11:46964755-46964756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46958600-46973800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:46958800-46969400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:46959000-46962800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:46959000-46964600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:46959000-46964800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:46959000-46966200	Weak transcription	Placenta	Placenta
7	chr11:46959000-46966800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:46959000-46968000	Weak transcription	Spleen	Spleen
9	chr11:46959000-46968800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:46959000-46969000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:46959000-46969200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:46959000-46969400	Weak transcription	Colonic Mucosa	Colon
13	chr11:46959000-46969400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:46959000-46969400	Weak transcription	Pancreas	Pancrea
15	chr11:46959000-46969600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:46959000-46969600	Weak transcription	HSMMtube	muscle
17	chr11:46959000-46973400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:46959000-46973600	Weak transcription	HUVEC	blood vessel
19	chr11:46959000-46973800	Weak transcription	Primary T cells from cord blood	blood
20	chr11:46959000-46973800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:46959000-46973800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:46959000-46975600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:46959000-46977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:46959000-46980000	Weak transcription	Aorta	Aorta
25	chr11:46959000-46980000	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:46959000-46980000	Weak transcription	Ovary	ovary
27	chr11:46959000-46980200	Weak transcription	Primary B cells from cord blood	blood
28	chr11:46959000-46980200	Weak transcription	Gastric	stomach
29	chr11:46959000-46980200	Weak transcription	Lung	lung
30	chr11:46959000-46980200	Weak transcription	Thymus	Thymus
31	chr11:46959000-46981000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:46959000-46982200	Weak transcription	Fetal Kidney	kidney
33	chr11:46959000-46982400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:46959000-46982600	Weak transcription	Fetal Thymus	thymus
35	chr11:46959000-46998600	Weak transcription	Left Ventricle	heart
36	chr11:46959200-46963400	Weak transcription	Fetal Intestine Small	intestine
37	chr11:46959200-46964600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:46959200-46965200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:46959200-46965800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:46959200-46966000	Weak transcription	HMEC	breast
41	chr11:46959200-46966000	Weak transcription	NHEK	skin
42	chr11:46959200-46966200	Strong transcription	Hela-S3	cervix
43	chr11:46959200-46968200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:46959200-46968400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:46959200-46968400	Weak transcription	A549	lung
46	chr11:46959200-46968400	Weak transcription	NH-A	brain
47	chr11:46959200-46968600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:46959200-46968600	Weak transcription	HepG2	liver
49	chr11:46959200-46968600	Weak transcription	NHDF-Ad	bronchial
50	chr11:46959200-46968800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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