Variant report

Variant	esv3381828
Chromosome Location	chr11:51572437-51573145
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	chr11:51570648..51572733-chr18:74448847..74450348,2	K562	blood:
2	chr1:205090687..205091190-chr11:51572148..51572834,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117222	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566967951	chr11:51572442-51572443	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200264587	chr11:51572445-51572446	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111902293	chr11:51572447-51572448	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147573513	chr11:51572455-51572456	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147842598	chr11:51572456-51572457	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141928588	chr11:51572461-51572462	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139873974	chr11:51572465-51572466	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75726926	chr11:51572473-51572474	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370076362	chr11:51572475-51572476	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370382330	chr11:51572476-51572477	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374342388	chr11:51572477-51572478	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374122282	chr11:51572480-51572481	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs202139728	chr11:51572483-51572484	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372240561	chr11:51572484-51572485	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376846236	chr11:51572488-51572489	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549415067	chr11:51572495-51572496	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61890606	chr11:51572501-51572502	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61890607	chr11:51572513-51572514	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61890608	chr11:51572520-51572521	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61890609	chr11:51572522-51572523	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79586433	chr11:51572540-51572541	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11502319	chr11:51572541-51572542	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182933683	chr11:51572547-51572548	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112774228	chr11:51572548-51572549	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113404439	chr11:51572553-51572554	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556515900	chr11:51572555-51572556	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74193873	chr11:51572561-51572562	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113126486	chr11:51572562-51572563	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188211130	chr11:51572563-51572564	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574864285	chr11:51572573-51572574	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75420825	chr11:51572617-51572618	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557790742	chr11:51572619-51572620	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76107415	chr11:51572621-51572622	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572952616	chr11:51572623-51572624	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61890610	chr11:51572627-51572628	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78651666	chr11:51572631-51572632	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs61890611	chr11:51572634-51572635	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540421857	chr11:51572636-51572637	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61890612	chr11:51572642-51572643	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79916258	chr11:51572644-51572645	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112652936	chr11:51572647-51572648	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77412718	chr11:51572649-51572650	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75989331	chr11:51572662-51572663	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs76639918	chr11:51572666-51572667	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199707284	chr11:51572667-51572668	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555417294	chr11:51572668-51572669	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573969117	chr11:51572669-51572670	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs78613618	chr11:51572670-51572671	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79082185	chr11:51572672-51572673	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74568225	chr11:51572676-51572677	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:105 , 50 per page) page: 1 2 3

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	chr11:51572000-51572600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:51572000-51573400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:51572000-51573400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr11:51572000-51573600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:51572000-51573600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:51572000-51573600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:51572000-51573600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:51572000-51573600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr11:51572000-51573600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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