Variant report

Variant	esv3411062
Chromosome Location	chr17:45218890-45219356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:45219072-45219456	K562	blood:	n/a	n/a
2	BRF2	chr17:45219077-45219542	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr17:45219082-45219450	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr17:45219120-45219270	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr17:45219160-45219310	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr17:45219220-45219370	AG04449	skin:	n/a	n/a
7	CTCF	chr17:45219160-45219310	RPTEC	kidney:	n/a	n/a
8	CTCF	chr17:45219240-45219390	GM12865	blood:	n/a	n/a
9	CTCF	chr17:45219140-45219290	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:45219140-45219290	WI-38	lung:	n/a	n/a
11	CTCF	chr17:45219120-45219270	HPF	lung:	n/a	n/a
12	CTCF	chr17:45219120-45219270	GM12878	blood:	n/a	n/a
13	CTCF	chr17:45219160-45219310	MCF-7	breast:	n/a	n/a
14	CTCF	chr17:45219140-45219290	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr17:45219160-45219310	GM12866	blood:	n/a	n/a
16	CTCF	chr17:45219160-45219310	HCT-116	colon:	n/a	n/a
17	CTCF	chr17:45219220-45219370	AG09309	skin:	n/a	n/a
18	CTCF	chr17:45219220-45219370	GM12868	blood:	n/a	n/a
19	CTCF	chr17:45219200-45219350	Caco-2	colon:	n/a	n/a
20	CTCF	chr17:45219220-45219370	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr17:45219120-45219270	AG10803	skin:	n/a	n/a
22	CTCF	chr17:45219200-45219350	HRE	kidney:	n/a	n/a
23	CTCF	chr17:45219160-45219310	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr17:45219160-45219310	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr17:45219120-45219270	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr17:45219180-45219330	HCM	heart:	n/a	n/a
27	CTCF	chr17:45219120-45219270	AG04449	skin:	n/a	n/a
28	CTCF	chr17:45219160-45219310	NHLF	lung:	n/a	n/a
29	CTCF	chr17:45219220-45219370	AG04450	lung:	n/a	n/a
30	CTCF	chr17:45219160-45219310	HAc	cerebellar:	n/a	n/a
31	CTCF	chr17:45219220-45219370	GM12870	blood:	n/a	n/a
32	CTCF	chr17:45219200-45219350	BJ	skin:	n/a	n/a
33	CTCF	chr17:45219120-45219270	HCFaa	heart:	n/a	n/a
34	CTCF	chr17:45219120-45219270	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr17:45219220-45219370	GM12871	blood:	n/a	n/a
36	CTCF	chr17:45219160-45219310	WI-38	lung:	n/a	n/a
37	CTCF	chr17:45219240-45219390	GM12801	blood:	n/a	n/a
38	CTCF	chr17:45219160-45219310	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr17:45219200-45219350	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr17:45219160-45219310	GM12868	blood:	n/a	n/a
41	ELK1	chr17:45219079-45219451	Hela-S3	cervix:	n/a	n/a
42	FAM48A	chr17:45219073-45219446	GM12878	blood:	n/a	n/a
43	FOXP2	chr17:45219148-45219445	SK-N-MC	brain:	n/a	n/a
44	GATA3	chr17:45219093-45219456	SH-SY5Y	brain:	n/a	n/a
45	GTF2F1	chr17:45219072-45219457	H1-hESC	embryonic stem cell:	n/a	n/a
46	GTF2F1	chr17:45219073-45219458	K562	blood:	n/a	n/a
47	GTF3C2	chr17:45219094-45219801	Hela-S3	cervix:	n/a	n/a
48	IKZF1	chr17:45219092-45219443	GM12878	blood:	n/a	n/a
49	IRF1	chr17:45219077-45219452	K562	blood:	n/a	chr17:45219164-45219178
50	MAZ	chr17:45219071-45219453	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:

No data

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

Extended variants
information (count: 34 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529321284	chr17:45218892-45218893	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376633909	chr17:45218938-45218939	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369006854	chr17:45218941-45218942	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372994587	chr17:45218952-45218953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376553593	chr17:45218955-45218956	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs373035354	chr17:45218982-45218983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192468303	chr17:45219016-45219017	ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs183421855	chr17:45219017-45219018	ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs531936233	chr17:45219062-45219063	ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs567173827	chr17:45219064-45219065	ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs199829285	chr17:45219153-45219154	ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564007493	chr17:45219154-45219155	ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs138805201	chr17:45219164-45219165	ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201296720	chr17:45219211-45219212	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201336226	chr17:45219223-45219224	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs75729335	chr17:45219226-45219227	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs79201963	chr17:45219239-45219240	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs80029043	chr17:45219241-45219242	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200940073	chr17:45219247-45219248	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs79415072	chr17:45219255-45219256	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74771330	chr17:45219276-45219277	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76995821	chr17:45219283-45219284	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs202052665	chr17:45219284-45219285	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113088130	chr17:45219290-45219291	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs79487913	chr17:45219296-45219297	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113472284	chr17:45219299-45219300	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75894512	chr17:45219310-45219311	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140737545	chr17:45219311-45219312	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546395575	chr17:45219318-45219319	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555462910	chr17:45219320-45219321	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201468566	chr17:45219321-45219322	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs62077261	chr17:45219332-45219333	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs199779693	chr17:45219342-45219343	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7220394	chr17:45219354-45219355	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:243 , 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	chr17:45214800-45219000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:45214800-45219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:45214800-45219000	Weak transcription	Right Atrium	heart
6	chr17:45214800-45219000	Weak transcription	Right Ventricle	heart
7	chr17:45214800-45219000	Weak transcription	Small Intestine	intestine
8	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:45215000-45219000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
12	chr17:45216200-45219000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:45216200-45219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:45216200-45219000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:45216200-45219000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:45216200-45219000	Weak transcription	Lung	lung
17	chr17:45216200-45219000	Weak transcription	Ovary	ovary
18	chr17:45216200-45219000	Weak transcription	Thymus	Thymus
19	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:45216400-45219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:45216400-45219000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:45216400-45219000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:45216400-45219000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:45216400-45219000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:45216400-45219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr17:45216400-45219000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:45216400-45219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:45216400-45219000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:45216400-45219000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:45216400-45219000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr17:45216400-45219000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr17:45216400-45219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:45216400-45219000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:45216400-45219000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:45216400-45219000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:45216400-45219000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:45216400-45219000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45216400-45219000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:45216400-45219000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr17:45216400-45219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr17:45216400-45219000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:45216400-45219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:45216400-45219000	Weak transcription	Aorta	Aorta
45	chr17:45216400-45219000	Weak transcription	Brain Angular Gyrus	brain
46	chr17:45216400-45219000	Weak transcription	Brain Anterior Caudate	brain
47	chr17:45216400-45219000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:45216400-45219000	Weak transcription	Brain Hippocampus Middle	brain
49	chr17:45216400-45219000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr17:45216400-45219000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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