Variant report

Variant	nsv554612
Chromosome Location	chr11:54695707-54968423
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	chr11:54832434..54832937-chr2:88315431..88316142,3	HCT-116	colon:
2	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:
3	chr11:54832434..54832936-chr2:88315651..88316162,2	Hela-S3	cervix:
4	chr11:54830914..54832417-chr2:88315417..88317014,2	MCF-7	breast:
5	chr11:54831915..54832416-chr2:88315509..88316126,2	Hela-S3	cervix:
6	chr11:54832434..54833936-chr2:88314570..88316990,4	MCF-7	breast:
7	chr11:54832435..54833937-chr2:88314124..88316426,4	K562	blood:
8	chr11:54831916..54832937-chr2:88315370..88316082,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000222724	chromatin interactions

Extended variants
information (count: 11131 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11131 , 50 per page) page: 1 2 3 4 5 6 7 ... 223

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537286647	chr11:54794202-54794203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113566988	chr11:54794218-54794219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558783786	chr11:54794223-54794224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577242685	chr11:54794228-54794229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs34944111	chr11:54794237-54794238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563074330	chr11:54794251-54794252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541817672	chr11:54794274-54794275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538561465	chr11:54794281-54794282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191371596	chr11:54794298-54794299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs548174998	chr11:54794302-54794303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568072624	chr11:54794314-54794315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs146755477	chr11:54794329-54794330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113578825	chr11:54794337-54794338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182176624	chr11:54794340-54794341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185113136	chr11:54794349-54794350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs190709410	chr11:54794350-54794351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531864467	chr11:54794354-54794355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs115645803	chr11:54794362-54794363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529704597	chr11:54794370-54794371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183354259	chr11:54794375-54794376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547869638	chr11:54794381-54794382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569817158	chr11:54794383-54794384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530602131	chr11:54794439-54794440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552264887	chr11:54794444-54794445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570678286	chr11:54794456-54794457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538838636	chr11:54794475-54794476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs115115152	chr11:54794484-54794485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs117250943	chr11:54794493-54794494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369148422	chr11:54794497-54794498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188235465	chr11:54794498-54794499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556913549	chr11:54794511-54794512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575368199	chr11:54794557-54794558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545908114	chr11:54794558-54794559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs533827499	chr11:54794563-54794564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557802684	chr11:54794591-54794592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs193074341	chr11:54794592-54794593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183541167	chr11:54794598-54794599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557550234	chr11:54794602-54794603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562446601	chr11:54794612-54794613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529560566	chr11:54794647-54794648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188239340	chr11:54794682-54794683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373759249	chr11:54794708-54794709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563286326	chr11:54794720-54794721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs1608400	chr11:54794727-54794728	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191902307	chr11:54794738-54794739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs539656218	chr11:54794752-54794753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs528327149	chr11:54794755-54794756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs546473254	chr11:54794779-54794780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114611524	chr11:54794824-54794825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183620361	chr11:54794826-54794827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54794200-54795800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:54794200-54802000	ZNF genes & repeats	Liver	Liver
3	chr11:54797000-54802000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr11:54797200-54798400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:54799600-54799800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:54800600-54811200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:54803000-54805600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr11:54805200-54809800	ZNF genes & repeats	Liver	Liver
9	chr11:54811400-54812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:54812000-54814400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:54812000-54825400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:54812200-54825000	ZNF genes & repeats	Liver	Liver
13	chr11:54814000-54814400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:54814000-54816200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:54814400-54815600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:54817000-54817400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:54818400-54821200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:54819400-54820000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr11:54819400-54820000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr11:54820600-54822400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:54821000-54823800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:54821200-54823200	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr11:54821400-54822400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr11:54827600-54832400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr11:54828400-54833800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:54829000-54830400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr11:54831000-54841800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr11:54832200-54832600	Active TSS	Brain Substantia Nigra	brain
29	chr11:54832600-54833400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:54833000-54834200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr11:54833400-54833800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:54833400-54833800	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr11:54833400-54833800	ZNF genes & repeats	HUVEC	blood vessel
34	chr11:54833400-54833800	ZNF genes & repeats	NH-A	brain
35	chr11:54833400-54833800	ZNF genes & repeats	Osteobl	bone
36	chr11:54833600-54833800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr11:54833600-54834000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr11:54835000-54835400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:54836200-54837600	ZNF genes & repeats	Liver	Liver
40	chr11:54836600-54837200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:54838800-54839200	Active TSS	Aorta	Aorta
42	chr11:54839000-54844200	ZNF genes & repeats	Liver	Liver
43	chr11:54839600-54843400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:54840000-54843600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr11:54840200-54842400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr11:54841400-54844200	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr11:54844400-54847800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr11:54844800-54851800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:54846600-54848200	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr11:54859000-54860000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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