Variant report

Variant	nsv522527
Chromosome Location	chr11:46024183-46033104
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45894042..45894935-chr11:46027854..46028664,3	MCF-7	breast:
2	chr11:46021583..46025208-chr11:46025456..46028440,3	K562	blood:
3	chr11:45961429..45964338-chr11:46026133..46027935,2	MCF-7	breast:
4	chr11:46028036..46029889-chr11:46143429..46146254,2	K562	blood:
5	chr11:45986178..45987053-chr11:46027578..46028603,4	MCF-7	breast:
6	chr11:46021583..46025208-chr11:46025456..46028440,3	K562	blood:
7	chr11:45986022..45987159-chr11:46027654..46029158,13	K562	blood:
8	chr11:46022169..46024500-chr11:46257893..46260465,2	K562	blood:
9	chr11:46024538..46028805-chr11:46032055..46036011,4	K562	blood:
10	chr11:45927204..45929356-chr11:46025400..46027265,2	K562	blood:
11	chr11:46024538..46028805-chr11:46032055..46036011,4	K562	blood:
12	chr11:45864388..45864916-chr11:46027549..46028549,2	K562	blood:
13	chr11:45947225..45949786-chr11:46028757..46031584,2	K562	blood:
14	chr11:46030678..46033076-chr11:46065487..46067655,2	K562	blood:
15	chr11:46027780..46028615-chr11:46097223..46097734,2	MCF-7	breast:
16	chr11:46019054..46021565-chr11:46025255..46027912,2	K562	blood:
17	chr11:45883027..45884736-chr11:46029523..46031223,2	K562	blood:
18	chr11:46014298..46016604-chr11:46031314..46033806,2	K562	blood:
19	chr11:45893895..45894589-chr11:46027736..46028724,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255498	chromatin interactions
ENSG00000165905	chromatin interactions
ENSG00000234776	chromatin interactions
ENSG00000254639	chromatin interactions
ENSG00000135365	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7950336	chr11:46024183-46024184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6485654	chr11:46024216-46024217	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550129842	chr11:46024220-46024221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs398055221	chr11:46024225-46024226	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563582277	chr11:46024242-46024243	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114036447	chr11:46024324-46024325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116435225	chr11:46024325-46024326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181698168	chr11:46024327-46024328	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7935308	chr11:46024355-46024356	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs116196180	chr11:46024373-46024374	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574773457	chr11:46024416-46024417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570194241	chr11:46024428-46024429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12803224	chr11:46024430-46024431	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12803245	chr11:46024457-46024458	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528039828	chr11:46024502-46024503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186668179	chr11:46024560-46024561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575994879	chr11:46024697-46024698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111402985	chr11:46024733-46024734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150902436	chr11:46024753-46024754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537419397	chr11:46024766-46024767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555398482	chr11:46024771-46024772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10769179	chr11:46024783-46024784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368399176	chr11:46024807-46024808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397848568	chr11:46024835-46024836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397847961	chr11:46024836-46024837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556820965	chr11:46024848-46024849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61283697	chr11:46024849-46024850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60482935	chr11:46024850-46024851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570360276	chr11:46024892-46024893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541212761	chr11:46024907-46024908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565004961	chr11:46024952-46024953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16938431	chr11:46025028-46025029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191562906	chr11:46025078-46025079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182499847	chr11:46025123-46025124	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138180002	chr11:46025127-46025128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76612666	chr11:46025134-46025135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs111442351	chr11:46025216-46025217	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs185262756	chr11:46025253-46025254	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562382414	chr11:46025339-46025340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189541671	chr11:46025366-46025367	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs369111295	chr11:46025369-46025370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs183281727	chr11:46025498-46025499	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559632568	chr11:46025509-46025510	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572359727	chr11:46025533-46025534	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528791025	chr11:46025543-46025544	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs59671545	chr11:46025629-46025630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551534958	chr11:46025680-46025681	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571555818	chr11:46025719-46025720	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147282132	chr11:46025764-46025765	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549618844	chr11:46025771-46025772	Weak transcription Enhancers Flanking Active TSS	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:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:46002000-46025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:46002200-46024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:46002200-46025000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:46006200-46025200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:46012800-46031000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:46012800-46062800	Weak transcription	GM12878-XiMat	blood
10	chr11:46015600-46026400	Weak transcription	Stomach Mucosa	stomach
11	chr11:46016200-46048200	Weak transcription	Esophagus	oesophagus
12	chr11:46016400-46025200	Weak transcription	Right Atrium	heart
13	chr11:46016800-46025200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:46016800-46044000	Weak transcription	Primary T cells from cord blood	blood
15	chr11:46017000-46032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:46017400-46024800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:46019800-46025000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:46019800-46025200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:46020600-46024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:46020600-46026800	Enhancers	Fetal Brain Male	brain
21	chr11:46021600-46025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:46022000-46026200	Weak transcription	K562	blood
23	chr11:46022000-46033600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:46022000-46074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:46022400-46025400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:46022600-46024400	Enhancers	Fetal Stomach	stomach
27	chr11:46022600-46024600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:46022600-46025400	Enhancers	NHDF-Ad	bronchial
29	chr11:46022600-46025400	Enhancers	NHLF	lung
30	chr11:46022600-46026000	Enhancers	Osteobl	bone
31	chr11:46022600-46026400	Enhancers	HSMM	muscle
32	chr11:46022600-46028200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:46022800-46026400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:46022800-46026600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:46023000-46026000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:46023000-46028000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:46023000-46029000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:46023200-46025200	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:46023200-46025600	Enhancers	HSMMtube	muscle
40	chr11:46023200-46026400	Enhancers	Fetal Brain Female	brain
41	chr11:46023400-46024400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:46023400-46024400	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:46023400-46024600	Weak transcription	Brain Germinal Matrix	brain
44	chr11:46023400-46024800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:46023400-46025000	Weak transcription	Fetal Lung	lung
46	chr11:46023400-46025200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:46023400-46025200	Weak transcription	Fetal Heart	heart
48	chr11:46023400-46026400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr11:46023400-46027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:46023400-46038200	Weak transcription	A549	lung

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