Variant report

Variant	esv6257
Chromosome Location	chr11:51572698-51580976
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:51570648..51572733-chr18:74448847..74450348,2	K562	blood:
2	chr1:205090687..205091190-chr11:51572148..51572834,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4A5-3	chr11:51578567-51578806	NONHSAT021351
2	lnc-OR4C46-2	chr11:51575662-51575709	NONHSAT021350
3	lnc-OR4A5-3	chr11:51578567-51578806	FPKM1_group_4638_transcript_1
4	lnc-OR4C46-2	chr11:51573408-51573440	NONHSAT021350

No data

Variant related genes	Relation type
ENSG00000117222	chromatin interactions

Extended variants
information (count: 1850 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1850 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74420120	chr11:51572699-51572700	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531982502	chr11:51572707-51572708	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77690432	chr11:51572709-51572710	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560587734	chr11:51572714-51572715	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58663303	chr11:51572717-51572718	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79964333	chr11:51572735-51572736	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74433817	chr11:51572738-51572739	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527919775	chr11:51572746-51572747	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78568571	chr11:51572747-51572748	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375329004	chr11:51572758-51572759	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200856006	chr11:51572763-51572764	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201861907	chr11:51572767-51572768	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374876695	chr11:51572774-51572775	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76948343	chr11:51572775-51572776	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79038843	chr11:51572784-51572785	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77689329	chr11:51572785-51572786	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369281817	chr11:51572789-51572790	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551660148	chr11:51572790-51572791	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200632807	chr11:51572791-51572792	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567891243	chr11:51572795-51572796	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201171662	chr11:51572810-51572811	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531903035	chr11:51572816-51572817	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550025114	chr11:51572832-51572833	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs202208547	chr11:51572848-51572849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568520518	chr11:51572855-51572856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200320313	chr11:51572861-51572862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538997145	chr11:51572866-51572867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557612744	chr11:51572873-51572874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201048973	chr11:51572908-51572909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566556195	chr11:51572909-51572910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs63749164	chr11:51572910-51572911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199825964	chr11:51572914-51572915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555517887	chr11:51572915-51572916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6598127	chr11:51572918-51572919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544534401	chr11:51572919-51572920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79077164	chr11:51572931-51572932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556457224	chr11:51572960-51572961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74767216	chr11:51572961-51572962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61890613	chr11:51572985-51572986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142352859	chr11:51572988-51572989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150269375	chr11:51572997-51572998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140279246	chr11:51572999-51573000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79558743	chr11:51573006-51573007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147256445	chr11:51573011-51573012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201859371	chr11:51573035-51573036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199670395	chr11:51573041-51573042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183710758	chr11:51573058-51573059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201651825	chr11:51573061-51573062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371750334	chr11:51573064-51573065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200111975	chr11:51573067-51573068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
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
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	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
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51567200-51573600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr11:51567200-51573600	ZNF genes & repeats	Liver	Liver
3	chr11:51567200-51573800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr11:51567200-51575800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:51567200-51576400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:51567200-51576600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr11:51567200-51581200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr11:51567200-51581200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:51567200-51581200	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr11:51567200-51581200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr11:51567200-51581200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr11:51567200-51581400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:51567200-51583200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr11:51567200-51584000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:51567200-51584000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr11:51567200-51584200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr11:51567200-51584400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:51569000-51573600	ZNF genes & repeats	Fetal Stomach	stomach
19	chr11:51570200-51573200	Weak transcription	NHEK	skin
20	chr11:51571800-51572800	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr11:51571800-51573600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:51571800-51573600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:51571800-51573600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:51571800-51573600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
25	chr11:51571800-51573600	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr11:51571800-51573600	ZNF genes & repeats	Fetal Heart	heart
27	chr11:51571800-51573600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
28	chr11:51571800-51573600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr11:51571800-51573600	ZNF genes & repeats	HepG2	liver
30	chr11:51571800-51573600	ZNF genes & repeats	NH-A	brain
31	chr11:51571800-51573800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr11:51571800-51573800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:51571800-51573800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:51571800-51573800	ZNF genes & repeats	HMEC	breast
35	chr11:51571800-51575800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr11:51571800-51581200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr11:51572000-51573400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:51572000-51573400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr11:51572000-51573600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:51572000-51573600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:51572000-51573600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:51572000-51573600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:51572000-51573600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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