Variant report

Variant	esv3411296
Chromosome Location	chr17:45221227-45221543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:45221080-45221465	K562	blood:	n/a	n/a
2	BCL3	chr17:45221131-45221346	GM12878	blood:	n/a	n/a
3	BRCA1	chr17:45221081-45221467	GM12878	blood:	n/a	n/a
4	BRCA1	chr17:45221081-45221463	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr17:45221120-45221270	AG04450	lung:	n/a	n/a
6	CTCF	chr17:45221271-45221344	ProgFib	skin:	n/a	n/a
7	CTCF	chr17:45221200-45221350	HPF	lung:	n/a	n/a
8	CTCF	chr17:45221140-45221290	AG04449	skin:	n/a	n/a
9	CTCF	chr17:45221140-45221290	GM12870	blood:	n/a	n/a
10	CTCF	chr17:45221180-45221330	HMF	breast:	n/a	n/a
11	CTCF	chr17:45221220-45221370	NHLF	lung:	n/a	n/a
12	CTCF	chr17:45221297-45221324	Fibrobl	skin:	n/a	n/a
13	CTCF	chr17:45221200-45221350	GM12868	blood:	n/a	n/a
14	CTCF	chr17:45221160-45221310	AG09309	skin:	n/a	n/a
15	CTCF	chr17:45221200-45221350	RPTEC	kidney:	n/a	n/a
16	CTCF	chr17:45221160-45221310	GM12869	blood:	n/a	n/a
17	CTCF	chr17:45221270-45221345	MCF-7	breast:	n/a	n/a
18	CTCF	chr17:45221160-45221310	WI-38	lung:	n/a	n/a
19	CTCF	chr17:45221140-45221290	GM12874	blood:	n/a	n/a
20	CTCF	chr17:45221265-45221349	MCF-7	breast:	n/a	n/a
21	CTCF	chr17:45221160-45221310	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:45221160-45221310	GM12872	blood:	n/a	n/a
23	CTCF	chr17:45221160-45221310	HPF	lung:	n/a	n/a
24	ELK1	chr17:45221085-45221467	K562	blood:	n/a	n/a
25	ELK1	chr17:45221079-45221462	Hela-S3	cervix:	n/a	n/a
26	GATA3	chr17:45220794-45221455	SH-SY5Y	brain:	n/a	n/a
27	GTF2F1	chr17:45221081-45221467	K562	blood:	n/a	n/a
28	GTF2F1	chr17:45221085-45221460	H1-hESC	embryonic stem cell:	n/a	n/a
29	IKZF1	chr17:45221092-45221451	GM12878	blood:	n/a	n/a
30	IRF3	chr17:45221088-45221461	GM12878	blood:	n/a	n/a
31	IRF3	chr17:45221092-45221462	Hela-S3	cervix:	n/a	n/a
32	KAT2A	chr17:45221084-45221459	Hela-S3	cervix:	n/a	n/a
33	MAFK	chr17:45221083-45221463	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr17:45221081-45221464	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr17:45221081-45221473	K562	blood:	n/a	n/a
36	MXI1	chr17:45221087-45221466	Hela-S3	cervix:	n/a	n/a
37	MYC	chr17:45221265-45221367	MCF-7	breast:	n/a	n/a
38	MYC	chr17:45221259-45221397	MCF-7	breast:	n/a	n/a
39	POLR2A	chr17:45221260-45221372	A549	lung:	n/a	n/a
40	POLR2A	chr17:45221257-45221399	MCF-7	breast:	n/a	n/a
41	POLR2A	chr17:45221249-45221388	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr17:45221256-45221450	MCF-7	breast:	n/a	n/a
43	PRDM1	chr17:45221082-45221463	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr17:45221084-45221474	K562	blood:	n/a	n/a
45	RCOR1	chr17:45221081-45221469	Hela-S3	cervix:	n/a	n/a
46	RFX5	chr17:45221075-45221500	K562	blood:	n/a	n/a
47	SMC3	chr17:45221081-45221466	Hela-S3	cervix:	n/a	n/a
48	STAT3	chr17:45221084-45221460	MCF10A-Er-Src	breast:	n/a	n/a
49	TBL1XR1	chr17:45221084-45221468	K562	blood:	n/a	n/a
50	TBP	chr17:45221085-45221455	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:
2	chr17:45220773..45221285-chr2:133019615..133020341,2	MCF-7	breast:
3	chr17:45221257..45221782-chr2:133016917..133017640,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199746290	chr17:45221237-45221238	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556376188	chr17:45221238-45221239	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75932008	chr17:45221247-45221248	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1064545	chr17:45221251-45221252	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1141701	chr17:45221273-45221274	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201321536	chr17:45221281-45221282	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77440865	chr17:45221286-45221287	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs199743911	chr17:45221287-45221288	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200676775	chr17:45221296-45221297	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs80120716	chr17:45221298-45221299	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76836956	chr17:45221303-45221304	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79454290	chr17:45221317-45221318	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77739281	chr17:45221318-45221319	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201152963	chr17:45221328-45221329	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs11570517	chr17:45221351-45221352	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377519746	chr17:45221357-45221358	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112698940	chr17:45221360-45221361	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs34885804	chr17:45221384-45221385	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs202044028	chr17:45221397-45221398	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs574709338	chr17:45221452-45221453	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs542275306	chr17:45221485-45221486	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190095345	chr17:45221490-45221491	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs11570516	chr17:45221517-45221518	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
6	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:45216400-45232600	Strong transcription	Osteobl	bone
8	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
9	chr17:45219000-45221400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr17:45219000-45221400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:45219000-45221400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr17:45219000-45221400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:45219000-45221400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr17:45219000-45221400	ZNF genes & repeats	Left Ventricle	heart
15	chr17:45219000-45225200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:45220000-45232800	Strong transcription	A549	lung
18	chr17:45220800-45221400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr17:45220800-45221400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr17:45220800-45221400	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr17:45220800-45221400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:45220800-45221400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:45220800-45221400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
24	chr17:45220800-45221400	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr17:45220800-45221400	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr17:45220800-45221400	ZNF genes & repeats	Colonic Mucosa	Colon
27	chr17:45220800-45221400	ZNF genes & repeats	Fetal Kidney	kidney
28	chr17:45220800-45221400	ZNF genes & repeats	Fetal Lung	lung
29	chr17:45220800-45221400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
30	chr17:45220800-45221400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr17:45220800-45221400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
32	chr17:45220800-45221400	ZNF genes & repeats	HMEC	breast
33	chr17:45220800-45221400	ZNF genes & repeats	HSMMtube	muscle
34	chr17:45220800-45221400	ZNF genes & repeats	HUVEC	blood vessel
35	chr17:45220800-45221400	ZNF genes & repeats	K562	blood
36	chr17:45221000-45221400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:45221000-45221400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr17:45221000-45221400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:45221000-45221400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:45221000-45221400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr17:45221000-45221400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr17:45221000-45221400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
43	chr17:45221000-45221400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr17:45221000-45221400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:45221000-45221400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:45221000-45221400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr17:45221000-45221400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr17:45221000-45221400	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr17:45221000-45221400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr17:45221000-45221400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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