Variant report

Variant	esv3377256
Chromosome Location	chr17:45234859-45235591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:45235405-45235833	K562	blood:	n/a	n/a
2	ATF3	chr17:45235420-45235783	K562	blood:	n/a	n/a
3	BACH1	chr17:45235402-45235840	K562	blood:	n/a	n/a
4	BRCA1	chr17:45235407-45235836	GM12878	blood:	n/a	n/a
5	BRCA1	chr17:45235405-45235836	Hela-S3	cervix:	n/a	n/a
6	BRF2	chr17:45235420-45235825	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr17:45235398-45235838	K562	blood:	n/a	n/a
8	CEBPB	chr17:45235404-45235836	A549	lung:	n/a	n/a
9	CEBPB	chr17:45235399-45235840	HepG2	liver:	n/a	n/a
10	CEBPB	chr17:45234137-45234861	K562	blood:	n/a	n/a
11	CHD1	chr17:45235411-45235837	GM12878	blood:	n/a	n/a
12	CHD2	chr17:45235410-45235838	K562	blood:	n/a	n/a
13	CTCF	chr17:45235500-45235650	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr17:45235500-45235650	AG04450	lung:	n/a	n/a
15	CTCF	chr17:45235520-45235670	HVMF	connective:	n/a	n/a
16	CTCF	chr17:45235500-45235650	GM12875	blood:	n/a	n/a
17	CTCF	chr17:45235580-45235730	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr17:45235560-45235710	RPTEC	kidney:	n/a	n/a
19	CTCF	chr17:45235520-45235670	GM12866	blood:	n/a	n/a
20	CTCF	chr17:45235500-45235650	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr17:45235540-45235690	GM12875	blood:	n/a	n/a
22	CTCF	chr17:45235540-45235690	GM12867	blood:	n/a	n/a
23	CTCF	chr17:45235520-45235670	BE2_C	brain:	n/a	n/a
24	CTCF	chr17:45235540-45235690	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr17:45235520-45235670	GM12873	blood:	n/a	n/a
26	CTCF	chr17:45235520-45235670	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr17:45235500-45235650	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr17:45235500-45235650	GM12878	blood:	n/a	n/a
29	CTCF	chr17:45235520-45235670	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr17:45235500-45235650	HCFaa	heart:	n/a	n/a
31	CTCF	chr17:45235520-45235670	MCF-7	breast:	n/a	n/a
32	CTCF	chr17:45235540-45235690	GM12864	blood:	n/a	n/a
33	CTCF	chr17:45235500-45235650	GM12872	blood:	n/a	n/a
34	CTCF	chr17:45235580-45235730	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr17:45235520-45235670	GM12870	blood:	n/a	n/a
36	CTCF	chr17:45235540-45235690	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr17:45235580-45235730	HMF	breast:	n/a	n/a
38	CTCF	chr17:45235520-45235670	RPTEC	kidney:	n/a	n/a
39	CTCF	chr17:45235560-45235710	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr17:45235560-45235710	MCF-7	breast:	n/a	n/a
41	CTCF	chr17:45235580-45235730	GM12872	blood:	n/a	n/a
42	CTCF	chr17:45235520-45235670	HCT-116	colon:	n/a	n/a
43	CTCF	chr17:45235560-45235710	GM12865	blood:	n/a	n/a
44	CTCF	chr17:45235500-45235650	HPF	lung:	n/a	n/a
45	CTCF	chr17:45235500-45235650	GM12864	blood:	n/a	n/a
46	CTCF	chr17:45235560-45235710	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr17:45235540-45235690	GM12871	blood:	n/a	n/a
48	CTCF	chr17:45235540-45235690	GM12870	blood:	n/a	n/a
49	CTCF	chr17:45235560-45235710	HL-60	blood:	n/a	n/a
50	CTCF	chr17:45235500-45235650	GM12865	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
2	chr17:45235479..45238611-chr17:45239349..45243601,4	K562	blood:
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
ENSG00000262265	chromatin interactions
ENSG00000178852	chromatin interactions
ENSG00000233786	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541921777	chr17:45234899-45234900	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs558288731	chr17:45234919-45234920	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs140288772	chr17:45234931-45234932	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs142654054	chr17:45234953-45234954	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs72523723	chr17:45234954-45234955	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs10636944	chr17:45234955-45234956	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201721869	chr17:45234956-45234957	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs534224251	chr17:45234982-45234983	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145379298	chr17:45234983-45234984	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs566941753	chr17:45235044-45235045	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs367809956	chr17:45235077-45235078	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs574277056	chr17:45235107-45235108	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs137873918	chr17:45235160-45235161	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs11570483	chr17:45235168-45235169	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs556445365	chr17:45235221-45235222	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs576587510	chr17:45235235-45235236	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs537422419	chr17:45235236-45235237	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs189464692	chr17:45235334-45235335	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs543856189	chr17:45235338-45235339	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs11570482	chr17:45235384-45235385	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs577204436	chr17:45235400-45235401	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs11570481	chr17:45235420-45235421	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs560116209	chr17:45235438-45235439	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs529142903	chr17:45235487-45235488	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs200176916	chr17:45235566-45235567	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs200592731	chr17:45235569-45235570	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs147815063	chr17:45235570-45235571	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs549270533	chr17:45235575-45235576	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs76190542	chr17:45235583-45235584	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 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:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45231600-45236200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45234200-45235800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45234200-45235800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:45234200-45235800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr17:45234200-45235800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr17:45234200-45235800	ZNF genes & repeats	Dnd41	blood
7	chr17:45234200-45235800	ZNF genes & repeats	Hela-S3	cervix
8	chr17:45234200-45235800	ZNF genes & repeats	HMEC	breast
9	chr17:45234200-45235800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr17:45234200-45235800	ZNF genes & repeats	Osteobl	bone
11	chr17:45234400-45236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45234400-45236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:45234400-45236200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45234600-45235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:45234600-45235400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:45234600-45235400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr17:45234600-45235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:45234600-45235400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:45234600-45235400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:45234600-45235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:45234600-45235400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr17:45234600-45235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:45234600-45235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:45234600-45235400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:45234600-45235400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:45234600-45235400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:45234600-45235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:45234600-45235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:45234600-45235400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:45234600-45235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:45234600-45235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:45234600-45235400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:45234600-45235400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:45234600-45235400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr17:45234600-45235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:45234600-45235400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr17:45234600-45235400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr17:45234600-45235400	Weak transcription	Primary B cells from cord blood	blood
39	chr17:45234600-45235400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr17:45234600-45235400	Weak transcription	Primary T cells from cord blood	blood
41	chr17:45234600-45235400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr17:45234600-45235400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:45234600-45235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr17:45234600-45235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr17:45234600-45235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr17:45234600-45235400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:45234600-45235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr17:45234600-45235400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:45234600-45235400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr17:45234600-45235400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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