Variant report

Variant	esv6020
Chromosome Location	chr11:51571441-51575292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:51570648..51572733-chr18:74448847..74450348,2	K562	blood:
2	chr11:51571654..51572156-chrX:61838804..61839307,2	MCF-7	breast:
3	chr11:51570628..51572150-chr6:149317397..149318917,2	MCF-7	breast:
4	chr1:205090687..205091190-chr11:51572148..51572834,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C46-2	chr11:51573408-51573440	NONHSAT021350

Variant related genes	Relation type
ENSG00000117222	chromatin interactions

Extended variants
information (count: 895 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112057983	chr11:51571448-51571449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61890590	chr11:51571453-51571454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565008778	chr11:51571455-51571456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149052656	chr11:51571459-51571460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61890592	chr11:51571462-51571463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61890593	chr11:51571468-51571469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149288224	chr11:51571469-51571470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532225932	chr11:51571471-51571472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140023144	chr11:51571472-51571473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139367731	chr11:51571473-51571474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147568966	chr11:51571477-51571478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565879829	chr11:51571478-51571479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142899970	chr11:51571483-51571484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144852038	chr11:51571484-51571485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376216494	chr11:51571488-51571489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78315862	chr11:51571495-51571496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548465591	chr11:51571497-51571498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372068127	chr11:51571498-51571499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147579144	chr11:51571499-51571500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78045310	chr11:51571500-51571501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569847626	chr11:51571501-51571502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376956776	chr11:51571502-51571503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75360142	chr11:51571503-51571504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369431222	chr11:51571504-51571505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372106243	chr11:51571513-51571514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376402600	chr11:51571515-51571516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532064074	chr11:51571517-51571518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558511359	chr11:51571521-51571522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148913446	chr11:51571525-51571526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200314432	chr11:51571529-51571530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78532110	chr11:51571530-51571531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369966323	chr11:51571540-51571541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79740670	chr11:51571541-51571542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373808454	chr11:51571543-51571544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77511245	chr11:51571555-51571556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183437005	chr11:51571565-51571566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201446161	chr11:51571574-51571575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375712458	chr11:51571575-51571576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117250005	chr11:51571577-51571578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142109132	chr11:51571582-51571583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141033601	chr11:51571586-51571587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148095213	chr11:51571587-51571588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139356681	chr11:51571588-51571589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368801267	chr11:51571591-51571592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372505525	chr11:51571596-51571597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367791890	chr11:51571602-51571603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143974611	chr11:51571603-51571604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376084796	chr11:51571605-51571606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187720152	chr11:51571610-51571611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370688814	chr11:51571611-51571612	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:211 , 50 per page) page: 1 2 3 4 5

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	chr11:51570200-51571800	Weak transcription	NH-A	brain
20	chr11:51570200-51572000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:51570200-51572000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:51570200-51572000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:51570200-51572000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:51570200-51572000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:51570200-51572000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:51570200-51572000	Weak transcription	Aorta	Aorta
27	chr11:51570200-51572000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:51570200-51572000	Weak transcription	Esophagus	oesophagus
29	chr11:51570200-51572000	Weak transcription	Gastric	stomach
30	chr11:51570200-51572000	Weak transcription	Lung	lung
31	chr11:51570200-51572000	Weak transcription	Ovary	ovary
32	chr11:51570200-51572000	Weak transcription	Pancreas	Pancrea
33	chr11:51570200-51572000	Weak transcription	Psoas Muscle	Psoas
34	chr11:51570200-51572000	Weak transcription	Right Atrium	heart
35	chr11:51570200-51572000	Weak transcription	Right Ventricle	heart
36	chr11:51570200-51572000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:51570200-51572000	Weak transcription	Small Intestine	intestine
38	chr11:51570200-51572000	Weak transcription	Stomach Mucosa	stomach
39	chr11:51570200-51572000	Weak transcription	Thymus	Thymus
40	chr11:51570200-51572000	Weak transcription	Spleen	Spleen
41	chr11:51570200-51572000	Weak transcription	GM12878-XiMat	blood
42	chr11:51570200-51572000	Weak transcription	Hela-S3	cervix
43	chr11:51570200-51572000	Weak transcription	HSMM	muscle
44	chr11:51570200-51572000	Weak transcription	HSMMtube	muscle
45	chr11:51570200-51572000	Weak transcription	K562	blood
46	chr11:51570200-51572000	Weak transcription	NHDF-Ad	bronchial
47	chr11:51570200-51572000	Weak transcription	NHLF	lung
48	chr11:51570200-51573200	Weak transcription	NHEK	skin
49	chr11:51570400-51572000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:51570400-51572000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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