Variant report

Variant	esv5907
Chromosome Location	chr11:51572131-51579561
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:205090687..205091190-chr11:51572148..51572834,2	MCF-7	breast:
2	chr11:51570648..51572733-chr18:74448847..74450348,2	K562	blood:
3	chr11:51571654..51572156-chrX:61838804..61839307,2	MCF-7	breast:
4	chr11:51570628..51572150-chr6:149317397..149318917,2	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	chr11:51573408-51573440	NONHSAT021350
3	lnc-OR4C46-2	chr11:51575662-51575709	NONHSAT021350
4	lnc-OR4A5-3	chr11:51578567-51578806	FPKM1_group_4638_transcript_1

No data

Variant related genes	Relation type
ENSG00000117222	chromatin interactions

Extended variants
information (count: 1582 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56182007	chr11:51572137-51572138	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78825534	chr11:51572142-51572143	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56331008	chr11:51572146-51572147	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75079276	chr11:51572149-51572150	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567182541	chr11:51572154-51572155	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534247855	chr11:51572168-51572169	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371086847	chr11:51572175-51572176	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61890604	chr11:51572190-51572191	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113228029	chr11:51572194-51572195	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61890605	chr11:51572201-51572202	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200797110	chr11:51572204-51572205	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555992778	chr11:51572207-51572208	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181138188	chr11:51572210-51572211	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78956335	chr11:51572211-51572212	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368992168	chr11:51572213-51572214	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368870639	chr11:51572215-51572216	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372603337	chr11:51572217-51572218	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376268562	chr11:51572224-51572225	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369145355	chr11:51572225-51572226	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374234864	chr11:51572226-51572227	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377626941	chr11:51572234-51572235	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373511260	chr11:51572244-51572245	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376966500	chr11:51572251-51572252	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556678220	chr11:51572254-51572255	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75869384	chr11:51572270-51572271	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75293165	chr11:51572279-51572280	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs80226355	chr11:51572284-51572285	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78160979	chr11:51572285-51572286	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574977772	chr11:51572286-51572287	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147949582	chr11:51572291-51572292	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148134577	chr11:51572300-51572301	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371419210	chr11:51572305-51572306	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199930830	chr11:51572306-51572307	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74476293	chr11:51572308-51572309	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371316310	chr11:51572309-51572310	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148075198	chr11:51572310-51572311	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200450522	chr11:51572326-51572327	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545619402	chr11:51572328-51572329	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146036072	chr11:51572331-51572332	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145459016	chr11:51572334-51572335	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140632830	chr11:51572335-51572336	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563959636	chr11:51572336-51572337	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137920191	chr11:51572339-51572340	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150787722	chr11:51572340-51572341	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6598126	chr11:51572345-51572346	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146841296	chr11:51572346-51572347	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143615828	chr11:51572350-51572351	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138826676	chr11:51572354-51572355	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376177363	chr11:51572359-51572360	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561968898	chr11:51572360-51572361	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	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:357 , 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	chr11:51572000-51572200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:51572000-51572200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr11:51572000-51572200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:51572000-51572200	ZNF genes & repeats	Esophagus	oesophagus
41	chr11:51572000-51572200	ZNF genes & repeats	Lung	lung
42	chr11:51572000-51572200	ZNF genes & repeats	Ovary	ovary
43	chr11:51572000-51572200	ZNF genes & repeats	Thymus	Thymus
44	chr11:51572000-51572200	ZNF genes & repeats	K562	blood
45	chr11:51572000-51572200	ZNF genes & repeats	NHDF-Ad	bronchial
46	chr11:51572000-51572200	ZNF genes & repeats	NHLF	lung
47	chr11:51572000-51572400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:51572000-51572400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:51572000-51572400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:51572000-51572400	ZNF genes & repeats	Placenta Amnion	Placenta Amnion

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