Variant report

Variant	nsv430427
Chromosome Location	chr11:105224246-105287241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105250266..105253126-chr11:105256715..105259279,2	K562	blood:
2	chr11:105250266..105253126-chr11:105256715..105259279,2	K562	blood:

Extended variants
information (count: 1328 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1328 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145884728	chr11:105227674-105227675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554422005	chr11:105227728-105227729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111981327	chr11:105227821-105227822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551264677	chr11:105227861-105227862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575234819	chr11:105227935-105227936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369298133	chr11:105227952-105227953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545561621	chr11:105227959-105227960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2044713	chr11:105227963-105227964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72977999	chr11:105227975-105227976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528215833	chr11:105227997-105227998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540392321	chr11:105227998-105227999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561869567	chr11:105228028-105228029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529172705	chr11:105228067-105228068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190029389	chr11:105228088-105228089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138426590	chr11:105228143-105228144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149246555	chr11:105228202-105228203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57551124	chr11:105228343-105228344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2044712	chr11:105228346-105228347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534038838	chr11:105228351-105228352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181158043	chr11:105228359-105228360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567895521	chr11:105228369-105228370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144422820	chr11:105228388-105228389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556850411	chr11:105228408-105228409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575107244	chr11:105228413-105228414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539410383	chr11:105228439-105228440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557800029	chr11:105228480-105228481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77994422	chr11:105228495-105228496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572933484	chr11:105228510-105228511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373301329	chr11:105228531-105228532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540377917	chr11:105228551-105228552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561857271	chr11:105228567-105228568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573817051	chr11:105228700-105228701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566984361	chr11:105228707-105228708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57783865	chr11:105228728-105228729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146158374	chr11:105228740-105228741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114040338	chr11:105228746-105228747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533092888	chr11:105228775-105228776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551322020	chr11:105228778-105228779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34796213	chr11:105228787-105228788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34383767	chr11:105228794-105228795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397732997	chr11:105228807-105228808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560119210	chr11:105228810-105228811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527775314	chr11:105228847-105228848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535567012	chr11:105228852-105228853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549105840	chr11:105228856-105228857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567743045	chr11:105228923-105228924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538458096	chr11:105228941-105228942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550126721	chr11:105228946-105228947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571874141	chr11:105229022-105229023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555789919	chr11:105229043-105229044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105227600-105228600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:105227600-105228600	Enhancers	HMEC	breast
3	chr11:105228000-105228600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:105228200-105228600	Enhancers	NHEK	skin
5	chr11:105228200-105228800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:105228200-105229000	Enhancers	Fetal Heart	heart
7	chr11:105228200-105229000	Enhancers	Fetal Intestine Large	intestine
8	chr11:105228400-105228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:105228400-105228600	Enhancers	Pancreas	Pancrea
10	chr11:105228400-105228800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:105228400-105228800	Enhancers	Fetal Intestine Small	intestine
12	chr11:105228600-105232200	Weak transcription	HMEC	breast
13	chr11:105228600-105232200	Weak transcription	NHEK	skin
14	chr11:105228800-105232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:105232000-105232600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:105232200-105232600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:105232200-105232600	Enhancers	HMEC	breast
18	chr11:105232200-105232600	Enhancers	NHEK	skin
19	chr11:105232600-105237600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:105232600-105242000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:105237600-105238000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:105238000-105242200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:105239400-105240000	Enhancers	Fetal Intestine Large	intestine
24	chr11:105239600-105239800	Bivalent Enhancer	Left Ventricle	heart
25	chr11:105242000-105243200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:105242000-105243400	Enhancers	NHEK	skin
27	chr11:105242200-105243200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:105246200-105246400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:105246200-105246600	ZNF genes & repeats	Aorta	Aorta
30	chr11:105251800-105252400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:105252600-105253400	Enhancers	Fetal Lung	lung
32	chr11:105258200-105259000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:105259000-105262400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:105259400-105260200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:105259800-105262000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:105259800-105262400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:105260200-105261200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:105260400-105261400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:105260400-105261400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:105260600-105261000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr11:105260600-105261400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr11:105261200-105261400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:105262400-105263200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:105263200-105264000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:105263800-105264200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:105264000-105264400	Enhancers	HUVEC	blood vessel
47	chr11:105264000-105265000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:105264200-105264600	Enhancers	Dnd41	blood
49	chr11:105265000-105269600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:105269600-105271000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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