Variant report

Variant	esv3449212
Chromosome Location	chr17:45213178-45213556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45211653..45214560-chr17:45231641..45234372,2	MCF-7	breast:
2	chr17:45213139..45213977-chr2:133022711..133023395,2	MCF-7	breast:
3	chr17:45213142..45213821-chr2:133022688..133023208,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYL4-2	chr17:45212171-45213246	ENSG00000249938
2	lnc-MYL4-2	chr17:45213289-45214095	ENSG00000249938

Variant related genes	Relation type
ENSG00000004897	chromatin interactions
TAF4	miRNA target sites
BCCIP	miRNA target sites

Extended variants
information (count: 27 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62075609	chr17:45213191-45213192	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs62075610	chr17:45213197-45213198	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs76217022	chr17:45213211-45213212	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs73310808	chr17:45213228-45213229	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs118142526	chr17:45213232-45213233	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs185175938	chr17:45213246-45213247	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs190819495	chr17:45213286-45213287	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576461681	chr17:45213305-45213306	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs202126011	chr17:45213330-45213331	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs147305442	chr17:45213333-45213334	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs148731873	chr17:45213334-45213335	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs572735334	chr17:45213358-45213359	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs541246408	chr17:45213365-45213366	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs141472199	chr17:45213372-45213373	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs530248230	chr17:45213401-45213402	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs548628390	chr17:45213407-45213408	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs112110518	chr17:45213415-45213416	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs531203438	chr17:45213421-45213422	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs551002464	chr17:45213437-45213438	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs571434110	chr17:45213526-45213527	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs200469306	chr17:45213529-45213530	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs183107417	chr17:45213530-45213531	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs547394977	chr17:45213532-45213533	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs376333382	chr17:45213534-45213535	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs77358063	chr17:45213550-45213551	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs370370566	chr17:45213553-45213554	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs372895332	chr17:45213554-45213555	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:45206400-45215200	Weak transcription	Brain Germinal Matrix	brain
4	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:45211200-45213200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr17:45212600-45214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:45212600-45214600	Weak transcription	Fetal Brain Female	brain
8	chr17:45212600-45214800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr17:45212800-45213200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
10	chr17:45212800-45213200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
11	chr17:45212800-45213200	Active TSS	Aorta	Aorta
12	chr17:45212800-45213200	ZNF genes & repeats	Brain Substantia Nigra	brain
13	chr17:45212800-45213200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
14	chr17:45212800-45213200	Flanking Bivalent TSS/Enh	A549	lung
15	chr17:45212800-45213200	ZNF genes & repeats	K562	blood
16	chr17:45212800-45213400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:45212800-45213400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr17:45212800-45213400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:45212800-45213400	ZNF genes & repeats	Fetal Thymus	thymus
20	chr17:45212800-45213400	ZNF genes & repeats	NHDF-Ad	bronchial
21	chr17:45212800-45213400	ZNF genes & repeats	NHLF	lung
22	chr17:45212800-45213400	ZNF genes & repeats	Osteobl	bone
23	chr17:45212800-45214800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr17:45212800-45214800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr17:45212800-45214800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:45212800-45214800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:45212800-45214800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr17:45212800-45214800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:45212800-45214800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:45212800-45214800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr17:45212800-45214800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr17:45212800-45214800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr17:45212800-45214800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:45212800-45214800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
35	chr17:45212800-45214800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
36	chr17:45212800-45214800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr17:45212800-45214800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:45212800-45214800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:45212800-45214800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:45212800-45214800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:45212800-45214800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:45212800-45214800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:45212800-45214800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr17:45212800-45214800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr17:45212800-45214800	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr17:45212800-45214800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr17:45212800-45214800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
48	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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