Variant report

Variant	esv3410631
Chromosome Location	chr17:45234239-45234455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:268)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:45234142-45234576	K562	blood:	n/a	n/a
2	ATF1	chr17:45234134-45234726	K562	blood:	n/a	n/a
3	BACH1	chr17:45234131-45234799	K562	blood:	n/a	n/a
4	BCL3	chr17:45234206-45234602	GM12878	blood:	n/a	n/a
5	BHLHE40	chr17:45234136-45234800	K562	blood:	n/a	n/a
6	BRCA1	chr17:45234133-45234796	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr17:45234130-45234799	GM12878	blood:	n/a	n/a
8	BRF2	chr17:45234129-45234644	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr17:45234137-45234861	K562	blood:	n/a	n/a
10	CHD1	chr17:45234134-45234628	GM12878	blood:	n/a	n/a
11	CHD2	chr17:45234136-45234628	GM12878	blood:	n/a	n/a
12	CHD2	chr17:45234130-45234796	K562	blood:	n/a	n/a
13	CHD2	chr17:45234137-45234585	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr17:45234260-45234410	RPTEC	kidney:	n/a	n/a
15	CTCF	chr17:45234280-45234430	NB4	blood:	n/a	n/a
16	CTCF	chr17:45234280-45234430	AG04449	skin:	n/a	n/a
17	CTCF	chr17:45234300-45234450	GM12874	blood:	n/a	n/a
18	CTCF	chr17:45234280-45234430	GM12868	blood:	n/a	n/a
19	CTCF	chr17:45234260-45234410	GM12866	blood:	n/a	n/a
20	CTCF	chr17:45234240-45234390	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr17:45234347-45234383	LNCaP	prostate:	n/a	n/a
22	CTCF	chr17:45234240-45234390	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr17:45234240-45234390	AG04449	skin:	n/a	n/a
24	CTCF	chr17:45234240-45234390	A549	lung:	n/a	n/a
25	CTCF	chr17:45234240-45234390	HMEC	breast:	n/a	n/a
26	CTCF	chr17:45234240-45234390	AG09309	skin:	n/a	n/a
27	CTCF	chr17:45234240-45234390	HEK293	kidney:	n/a	n/a
28	CTCF	chr17:45234240-45234390	HPF	lung:	n/a	n/a
29	CTCF	chr17:45234300-45234450	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr17:45234280-45234430	HAc	cerebellar:	n/a	n/a
31	CTCF	chr17:45234300-45234450	GM12872	blood:	n/a	n/a
32	CTCF	chr17:45234320-45234470	GM12873	blood:	n/a	n/a
33	CTCF	chr17:45234260-45234410	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr17:45234240-45234390	BJ	skin:	n/a	n/a
35	CTCF	chr17:45234260-45234410	AG04450	lung:	n/a	n/a
36	CTCF	chr17:45234280-45234430	HPF	lung:	n/a	n/a
37	CTCF	chr17:45234260-45234410	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr17:45234260-45234410	HFF	foreskin:	n/a	n/a
39	CTCF	chr17:45234280-45234430	GM12869	blood:	n/a	n/a
40	CTCF	chr17:45234300-45234450	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr17:45234260-45234410	HCM	heart:	n/a	n/a
42	CTCF	chr17:45234280-45234430	GM12865	blood:	n/a	n/a
43	CTCF	chr17:45234240-45234390	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr17:45234260-45234410	WI-38	lung:	n/a	n/a
45	CTCF	chr17:45234291-45234442	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr17:45234240-45234390	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr17:45234260-45234410	BE2_C	brain:	n/a	n/a
48	CTCF	chr17:45234240-45234390	GM12865	blood:	n/a	n/a
49	CTCF	chr17:45234240-45234390	GM12874	blood:	n/a	n/a
50	CTCF	chr17:45234299-45234410	LNCaP	prostate:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45234327..45234832-chr2:133019437..133020117,2	MCF-7	breast:
2	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
3	chr17:45234310..45237087-chr2:133018866..133020562,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000263293	chromatin interactions
ENSG00000233786	chromatin interactions
ENSG00000178852	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 120 )

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	rs376607788	chr17:45234251-45234252	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs200148088	chr17:45234252-45234253	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs200963865	chr17:45234277-45234278	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201613328	chr17:45234278-45234279	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs563697546	chr17:45234283-45234284	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs201803403	chr17:45234287-45234288	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs62077263	chr17:45234298-45234299	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs199588670	chr17:45234300-45234301	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs200611688	chr17:45234303-45234304	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7350889	chr17:45234327-45234328	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs113206140	chr17:45234331-45234332	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs3208659	chr17:45234343-45234344	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs62077264	chr17:45234360-45234361	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs373978944	chr17:45234362-45234363	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs200148949	chr17:45234367-45234368	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs7350908	chr17:45234397-45234398	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs75184508	chr17:45234403-45234404	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs74925848	chr17:45234404-45234405	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs112848754	chr17:45234407-45234408	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs74628496	chr17:45234416-45234417	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs193061947	chr17:45234417-45234418	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs78493795	chr17:45234420-45234421	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs377526614	chr17:45234425-45234426	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs78072949	chr17:45234430-45234431	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201187810	chr17:45234432-45234433	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs75241171	chr17:45234434-45234435	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs112216339	chr17:45234449-45234450	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45226600-45234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:45230000-45234600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45231600-45236200	Weak transcription	Brain Germinal Matrix	brain
4	chr17:45234200-45234400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
5	chr17:45234200-45234400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:45234200-45234400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:45234200-45234400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:45234200-45234600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr17:45234200-45234600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
10	chr17:45234200-45234600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr17:45234200-45234600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:45234200-45234600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:45234200-45234600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:45234200-45234600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45234200-45234600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr17:45234200-45234600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:45234200-45234600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:45234200-45234600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:45234200-45234600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr17:45234200-45234600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr17:45234200-45234600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:45234200-45234600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr17:45234200-45234600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr17:45234200-45234600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:45234200-45234600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:45234200-45234600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:45234200-45234600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:45234200-45234600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45234200-45234600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45234200-45234600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr17:45234200-45234600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:45234200-45234600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr17:45234200-45234600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr17:45234200-45234600	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr17:45234200-45234600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
36	chr17:45234200-45234600	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr17:45234200-45234600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
38	chr17:45234200-45234600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr17:45234200-45234600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:45234200-45234600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr17:45234200-45234600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr17:45234200-45234600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:45234200-45234600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr17:45234200-45234600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:45234200-45234600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr17:45234200-45234600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr17:45234200-45234600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:45234200-45234600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:45234200-45234600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
50	chr17:45234200-45234600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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