Variant report

Variant	nsv437716
Chromosome Location	chr11:34948586-34950196
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	chr11:34936972..34940330-chr11:34946468..34949282,3	K562	blood:
2	chr11:34948963..34950630-chr11:34950747..34953143,2	K562	blood:
3	chr11:34947703..34949304-chr11:35057040..35059668,2	K562	blood:
4	chr11:34948905..34951586-chr11:35371482..35373998,2	MCF-7	breast:
5	chr11:34948435..34950390-chr11:35072380..35075148,2	K562	blood:
6	chr11:34941386..34944859-chr11:34946221..34949330,3	K562	blood:
7	chr11:34947961..34950134-chr11:34950392..34952887,2	MCF-7	breast:
8	chr11:34943666..34945334-chr11:34948612..34950173,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149089	chromatin interactions
ENSG00000110435	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2986410	chr11:34948586-34948587	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12804006	chr11:34948636-34948637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs568671377	chr11:34948713-34948714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374265947	chr11:34948721-34948722	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568804130	chr11:34948732-34948733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368469120	chr11:34948745-34948746	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs72519795	chr11:34948772-34948773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112844002	chr11:34948773-34948774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs75620682	chr11:34948774-34948775	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10488803	chr11:34948827-34948828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs571334809	chr11:34948852-34948853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10488804	chr11:34948876-34948877	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs534908169	chr11:34948998-34948999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553706584	chr11:34949002-34949003	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573725492	chr11:34949011-34949012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543332835	chr11:34949013-34949014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs79742177	chr11:34949036-34949037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576660061	chr11:34949046-34949047	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546365204	chr11:34949053-34949054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545636199	chr11:34949114-34949115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs2915197	chr11:34949116-34949117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs542569995	chr11:34949158-34949159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541215767	chr11:34949159-34949160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561327060	chr11:34949169-34949170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs17349298	chr11:34949198-34949199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs80287489	chr11:34949234-34949235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562464525	chr11:34949238-34949239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114848649	chr11:34949241-34949242	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559488455	chr11:34949243-34949244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs146398250	chr11:34949267-34949268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs2986411	chr11:34949270-34949271	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs192303343	chr11:34949285-34949286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12269970	chr11:34949297-34949298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560717809	chr11:34949309-34949310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113150462	chr11:34949325-34949326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370357669	chr11:34949332-34949333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184649330	chr11:34949419-34949420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12283472	chr11:34949502-34949503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs556865287	chr11:34949562-34949563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576796283	chr11:34949565-34949566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117744956	chr11:34949571-34949572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12283435	chr11:34949613-34949614	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561255192	chr11:34949695-34949696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79382379	chr11:34949726-34949727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114584936	chr11:34949762-34949763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574464193	chr11:34949763-34949764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10836322	chr11:34949866-34949867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs563375119	chr11:34949915-34949916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573225161	chr11:34949918-34949919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56697214	chr11:34949930-34949931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	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
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34938800-34951400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:34938800-34957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:34938800-34990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:34939000-34950600	Weak transcription	Gastric	stomach
5	chr11:34939200-34950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:34939200-34950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:34939200-34952200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:34939200-34952800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:34939200-34953000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr11:34939200-34953400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:34939200-34956000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:34939200-35000000	Weak transcription	Thymus	Thymus
13	chr11:34939400-34952800	Weak transcription	Primary B cells from cord blood	blood
14	chr11:34939400-34953200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:34939400-34953400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:34939600-34949400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:34939600-34949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:34939600-34950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:34939600-34962600	Weak transcription	Right Ventricle	heart
20	chr11:34939800-34949600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:34939800-34950800	Weak transcription	Pancreas	Pancrea
22	chr11:34939800-34951200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:34939800-34951400	Weak transcription	Fetal Intestine Small	intestine
24	chr11:34939800-34953800	Weak transcription	Placenta	Placenta
25	chr11:34939800-34960400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:34940000-34950800	Weak transcription	Right Atrium	heart
27	chr11:34940000-34954000	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:34940000-34959200	Weak transcription	Fetal Brain Male	brain
29	chr11:34940000-34963800	Weak transcription	Spleen	Spleen
30	chr11:34940200-34950000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:34940200-34954000	Weak transcription	Primary T cells from cord blood	blood
32	chr11:34940200-34970400	Weak transcription	Left Ventricle	heart
33	chr11:34940200-34984800	Weak transcription	Fetal Stomach	stomach
34	chr11:34940400-34950200	Weak transcription	Small Intestine	intestine
35	chr11:34940400-34954000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:34940400-34957000	Weak transcription	Brain Germinal Matrix	brain
37	chr11:34940400-34959200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:34940400-34959400	Weak transcription	Fetal Brain Female	brain
39	chr11:34940400-34962600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:34940600-34953800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:34940600-34954000	Weak transcription	Dnd41	blood
42	chr11:34940600-34957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:34940800-34957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:34942600-34954000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:34942600-34955000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:34942800-34948600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:34943000-34949600	Weak transcription	K562	blood
48	chr11:34943000-34951200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:34943000-34951400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:34943800-34952600	Weak transcription	Monocytes-CD14+_RO01746	blood

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