Variant report

Variant	nsv508650
Chromosome Location	chr11:93609010-93713576
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:
2	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
3	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:
4	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
5	chr11:93654497..93655291-chr11:93768975..93769708,2	MCF-7	breast:
6	chr11:93654633..93655604-chr11:93769016..93769927,3	K562	blood:
7	chr11:93710125..93711813-chr11:93711990..93713968,2	K562	blood:
8	chr11:93595699..93598655-chr11:93614641..93616406,2	K562	blood:
9	chr11:93710125..93711813-chr11:93711990..93713968,2	K562	blood:
10	chr11:93667365..93670015-chr11:93861067..93863754,2	MCF-7	breast:
11	chr11:93654234..93656516-chr11:93799480..93801603,2	K562	blood:
12	chr11:93652951..93654960-chr11:93861223..93864128,2	MCF-7	breast:
13	chr11:93667177..93668967-chr11:93861410..93863273,2	K562	blood:
14	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
15	chr11:93472961..93474532-chr11:93613286..93616036,2	K562	blood:
16	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:
17	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
18	chr1:145200270..145202766-chr11:93677416..93679121,2	K562	blood:
19	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
20	chr11:93654636..93655438-chr11:93916836..93917602,2	MCF-7	breast:
21	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:
22	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
23	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:
24	chr11:93710641..93712864-chr11:93716292..93719148,2	K562	blood:
25	chr11:93710641..93713058-chr11:93716292..93719864,4	K562	blood:
26	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:
27	chr11:93473884..93475767-chr11:93642001..93643799,2	MCF-7	breast:
28	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
29	chr11:93628291..93629247-chr11:93840284..93841220,3	MCF-7	breast:
30	chr11:93628315..93628898-chr11:94237624..94238351,2	MCF-7	breast:
31	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:
32	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
33	chr11:93602999..93605410-chr11:93610005..93611833,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110218	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000272709	chromatin interactions

Extended variants
information (count: 3293 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3293 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578022403	chr11:93609016-93609017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372557526	chr11:93609100-93609101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539052805	chr11:93609102-93609103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373004611	chr11:93609125-93609126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557075960	chr11:93609143-93609144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575932341	chr11:93609151-93609152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs67224452	chr11:93609179-93609180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561469310	chr11:93609187-93609188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547514471	chr11:93609226-93609227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190426368	chr11:93609337-93609338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183013344	chr11:93609360-93609361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150111545	chr11:93609365-93609366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186995486	chr11:93609376-93609377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60150704	chr11:93609383-93609384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563098683	chr11:93609402-93609403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192708402	chr11:93609480-93609481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539146652	chr11:93609486-93609487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539793480	chr11:93609575-93609576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536559094	chr11:93609623-93609624	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567140736	chr11:93609669-93609670	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116201777	chr11:93609672-93609673	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546369881	chr11:93609744-93609745	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35470736	chr11:93609822-93609823	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184280405	chr11:93609835-93609836	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370289839	chr11:93609852-93609853	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs57637135	chr11:93609870-93609871	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34586804	chr11:93609918-93609919	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187644342	chr11:93609923-93609924	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs193225549	chr11:93609942-93609943	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536964835	chr11:93609948-93609949	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs555267330	chr11:93609955-93609956	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573560876	chr11:93610014-93610015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540856969	chr11:93610071-93610072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11511818	chr11:93610080-93610081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577678345	chr11:93610130-93610131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544731764	chr11:93610142-93610143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563318612	chr11:93610143-93610144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530391291	chr11:93610181-93610182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542203954	chr11:93610190-93610191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140208832	chr11:93610218-93610219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11020572	chr11:93610223-93610224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs367660187	chr11:93610258-93610259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553502616	chr11:93610314-93610315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546431344	chr11:93610342-93610343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571312263	chr11:93610532-93610533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138998072	chr11:93610541-93610542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550766895	chr11:93610569-93610570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554434794	chr11:93610611-93610612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569247192	chr11:93610624-93610625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536678418	chr11:93610705-93610706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93609000-93610000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:93609000-93613200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:93609200-93609800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:93609200-93610600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:93609200-93613600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:93609400-93610000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:93609600-93609800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr11:93609600-93609800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:93609800-93610000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:93609800-93610600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:93609800-93615400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:93610000-93610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:93610000-93610600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:93610000-93611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:93610200-93613200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:93610400-93612000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:93610600-93611200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:93610600-93611400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:93610600-93613000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:93610600-93613200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:93611000-93613400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:93611200-93613200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:93611200-93613600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:93611400-93612800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:93611400-93613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:93611600-93613000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr11:93612000-93612600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:93612000-93614400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:93613400-93614000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:93613600-93614600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:93614400-93615000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:93614600-93615200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:93615400-93615600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:93615800-93616200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:93618000-93618600	Enhancers	Fetal Heart	heart
36	chr11:93619600-93620800	Enhancers	Fetal Kidney	kidney
37	chr11:93619800-93620200	Enhancers	Gastric	stomach
38	chr11:93623000-93623800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:93628200-93628800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:93628400-93628600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:93628400-93628600	Enhancers	Stomach Mucosa	stomach
42	chr11:93628400-93628800	Active TSS	Osteobl	bone
43	chr11:93628600-93628800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:93628800-93629000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:93628800-93629000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:93628800-93629200	Enhancers	Osteobl	bone
47	chr11:93629000-93629200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:93629000-93629600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:93634400-93638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:93635000-93635200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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