Variant report

Variant	nsv972948
Chromosome Location	chr11:46025325-46031491
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45927204..45929356-chr11:46025400..46027265,2	K562	blood:
2	chr11:45864388..45864916-chr11:46027549..46028549,2	K562	blood:
3	chr11:46019054..46021565-chr11:46025255..46027912,2	K562	blood:
4	chr11:45986022..45987159-chr11:46027654..46029158,13	K562	blood:
5	chr11:46014298..46016604-chr11:46031314..46033806,2	K562	blood:
6	chr11:45883027..45884736-chr11:46029523..46031223,2	K562	blood:
7	chr11:45894042..45894935-chr11:46027854..46028664,3	MCF-7	breast:
8	chr11:45947225..45949786-chr11:46028757..46031584,2	K562	blood:
9	chr11:46024538..46028805-chr11:46032055..46036011,4	K562	blood:
10	chr11:45893895..45894589-chr11:46027736..46028724,3	MCF-7	breast:
11	chr11:46021583..46025208-chr11:46025456..46028440,3	K562	blood:
12	chr11:46027780..46028615-chr11:46097223..46097734,2	MCF-7	breast:
13	chr11:46028036..46029889-chr11:46143429..46146254,2	K562	blood:
14	chr11:45961429..45964338-chr11:46026133..46027935,2	MCF-7	breast:
15	chr11:46030678..46033076-chr11:46065487..46067655,2	K562	blood:
16	chr11:45986178..45987053-chr11:46027578..46028603,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165905	chromatin interactions
ENSG00000255498	chromatin interactions
ENSG00000234776	chromatin interactions
ENSG00000135365	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562382414	chr11:46025339-46025340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189541671	chr11:46025366-46025367	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369111295	chr11:46025369-46025370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183281727	chr11:46025498-46025499	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs559632568	chr11:46025509-46025510	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572359727	chr11:46025533-46025534	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528791025	chr11:46025543-46025544	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs59671545	chr11:46025629-46025630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551534958	chr11:46025680-46025681	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571555818	chr11:46025719-46025720	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147282132	chr11:46025764-46025765	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549618844	chr11:46025771-46025772	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569586502	chr11:46025813-46025814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535121753	chr11:46025865-46025866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529733874	chr11:46025929-46025930	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187622514	chr11:46025932-46025933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs36099003	chr11:46025951-46025952	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs72904359	chr11:46025958-46025959	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534963045	chr11:46026010-46026011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs193052497	chr11:46026105-46026106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183794952	chr11:46026120-46026121	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs577752096	chr11:46026141-46026142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543852881	chr11:46026151-46026152	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372948747	chr11:46026183-46026184	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557194470	chr11:46026202-46026203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573942015	chr11:46026222-46026223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542638371	chr11:46026257-46026258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140783129	chr11:46026272-46026273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528306728	chr11:46026311-46026312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61882511	chr11:46026335-46026336	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566580331	chr11:46026402-46026403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545333264	chr11:46026487-46026488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565094988	chr11:46026515-46026516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188331916	chr11:46026531-46026532	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369376668	chr11:46026565-46026566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373664975	chr11:46026579-46026580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549814207	chr11:46026599-46026600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193002042	chr11:46026638-46026639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529013494	chr11:46026744-46026745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562392608	chr11:46026747-46026748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs548996790	chr11:46026751-46026752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs527268473	chr11:46026755-46026756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377664648	chr11:46026796-46026797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142817626	chr11:46026866-46026867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534877497	chr11:46026933-46026934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558088841	chr11:46026943-46026944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542058230	chr11:46026944-46026945	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571930778	chr11:46026949-46026950	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571441086	chr11:46026955-46026956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536866831	chr11:46027013-46027014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:46012800-46031000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:46012800-46062800	Weak transcription	GM12878-XiMat	blood
6	chr11:46015600-46026400	Weak transcription	Stomach Mucosa	stomach
7	chr11:46016200-46048200	Weak transcription	Esophagus	oesophagus
8	chr11:46016800-46044000	Weak transcription	Primary T cells from cord blood	blood
9	chr11:46017000-46032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:46020600-46026800	Enhancers	Fetal Brain Male	brain
11	chr11:46021600-46025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:46022000-46026200	Weak transcription	K562	blood
13	chr11:46022000-46033600	Weak transcription	Primary B cells from cord blood	blood
14	chr11:46022000-46074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:46022400-46025400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:46022600-46025400	Enhancers	NHDF-Ad	bronchial
17	chr11:46022600-46025400	Enhancers	NHLF	lung
18	chr11:46022600-46026000	Enhancers	Osteobl	bone
19	chr11:46022600-46026400	Enhancers	HSMM	muscle
20	chr11:46022600-46028200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:46022800-46026400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:46022800-46026600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:46023000-46026000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:46023000-46028000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:46023000-46029000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:46023200-46025600	Enhancers	HSMMtube	muscle
27	chr11:46023200-46026400	Enhancers	Fetal Brain Female	brain
28	chr11:46023400-46026400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:46023400-46027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:46023400-46038200	Weak transcription	A549	lung
31	chr11:46023400-46041800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:46023400-46047800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:46023400-46048200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:46023600-46025800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:46023600-46027000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:46023600-46041600	Weak transcription	Ovary	ovary
37	chr11:46023600-46046400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:46024000-46026800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:46024000-46028000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:46024400-46026600	Weak transcription	Fetal Stomach	stomach
41	chr11:46024600-46025600	Enhancers	Brain Germinal Matrix	brain
42	chr11:46024800-46025600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:46024800-46025600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:46024800-46025600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:46024800-46026000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:46024800-46026400	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:46024800-46042600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:46025000-46025400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:46025000-46025400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:46025000-46025400	Enhancers	Skeletal Muscle Male	skeletal muscle

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