Variant report

Variant	esv3347509
Chromosome Location	chr17:45214164-45214579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45213650..45214313-chr17:45258453..45258970,2	MCF-7	breast:
2	chr17:45211653..45214560-chr17:45231641..45234372,2	MCF-7	breast:
3	chr1:221341805..221342306-chr17:45213813..45214486,2	MCF-7	breast:
4	chr17:45214288..45216196-chr2:133019606..133021862,2	MCF-7	breast:
5	chr1:193072002..193072504-chr17:45213650..45214437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233786	chromatin interactions
ENSG00000004897	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78962518	chr17:45214167-45214168	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74851674	chr17:45214169-45214170	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77008868	chr17:45214182-45214183	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74725442	chr17:45214184-45214185	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75409257	chr17:45214185-45214186	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547627730	chr17:45214186-45214187	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567448286	chr17:45214187-45214188	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78046362	chr17:45214190-45214191	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77445213	chr17:45214198-45214199	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77146736	chr17:45214206-45214207	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202004640	chr17:45214219-45214220	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374866439	chr17:45214222-45214223	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369263739	chr17:45214223-45214224	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367856634	chr17:45214227-45214228	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377342116	chr17:45214231-45214232	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145956947	chr17:45214232-45214233	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74492629	chr17:45214233-45214234	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377422212	chr17:45214236-45214237	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369869167	chr17:45214238-45214239	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112410015	chr17:45214240-45214241	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373098075	chr17:45214242-45214243	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371671546	chr17:45214245-45214246	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376318111	chr17:45214247-45214248	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370375834	chr17:45214249-45214250	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs386797411	chr17:45214260-45214261	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201530600	chr17:45214261-45214262	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62075616	chr17:45214276-45214277	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76250140	chr17:45214283-45214284	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201366386	chr17:45214305-45214306	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374897480	chr17:45214316-45214317	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs386797412	chr17:45214318-45214319	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs80202554	chr17:45214319-45214320	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76575872	chr17:45214325-45214326	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs386797413	chr17:45214330-45214331	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377129069	chr17:45214332-45214333	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150771216	chr17:45214333-45214334	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371540265	chr17:45214335-45214336	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550037000	chr17:45214342-45214343	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144353263	chr17:45214346-45214347	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570145229	chr17:45214351-45214352	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111624338	chr17:45214352-45214353	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112067488	chr17:45214356-45214357	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539109496	chr17:45214357-45214358	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112513055	chr17:45214361-45214362	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112119468	chr17:45214366-45214367	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs57433865	chr17:45214369-45214370	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs77659049	chr17:45214373-45214374	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77532061	chr17:45214390-45214391	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs78002830	chr17:45214392-45214393	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs79972073	chr17:45214398-45214399	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 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:134 , 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	chr17:45212600-45214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:45212600-45214600	Weak transcription	Fetal Brain Female	brain
7	chr17:45212600-45214800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr17:45212800-45214800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr17:45212800-45214800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr17:45212800-45214800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:45212800-45214800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:45212800-45214800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr17:45212800-45214800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:45212800-45214800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:45212800-45214800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr17:45212800-45214800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr17:45212800-45214800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr17:45212800-45214800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:45212800-45214800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr17:45212800-45214800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr17:45212800-45214800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr17:45212800-45214800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:45212800-45214800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:45212800-45214800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:45212800-45214800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:45212800-45214800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:45212800-45214800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:45212800-45214800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
29	chr17:45212800-45214800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr17:45212800-45214800	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr17:45212800-45214800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr17:45212800-45214800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr17:45212800-45214800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr17:45212800-45214800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:45212800-45214800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:45212800-45214800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:45212800-45214800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chr17:45212800-45214800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr17:45212800-45214800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:45212800-45214800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:45212800-45214800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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