Variant report

Variant	esv3384176
Chromosome Location	chr17:45216103-45216679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:45215937-45216305	K562	blood:	n/a	n/a
2	BRCA1	chr17:45215935-45216371	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr17:45215938-45216371	GM12878	blood:	n/a	n/a
4	BRF2	chr17:45216005-45216370	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr17:45216060-45216210	GM12869	blood:	n/a	n/a
6	CTCF	chr17:45216060-45216210	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr17:45216060-45216210	GM12865	blood:	n/a	n/a
8	CTCF	chr17:45216040-45216190	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr17:45216060-45216210	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr17:45216060-45216210	GM12872	blood:	n/a	n/a
11	CTCF	chr17:45216040-45216190	HMF	breast:	n/a	n/a
12	CTCF	chr17:45216060-45216210	GM12875	blood:	n/a	n/a
13	CTCF	chr17:45216040-45216190	HepG2	liver:	n/a	n/a
14	CTCF	chr17:45216100-45216250	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr17:45216060-45216210	HMEC	breast:	n/a	n/a
16	CTCF	chr17:45216040-45216190	HPF	lung:	n/a	n/a
17	CTCF	chr17:45216060-45216210	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr17:45216060-45216210	GM12874	blood:	n/a	n/a
19	CTCF	chr17:45216060-45216210	GM06990	blood:	n/a	n/a
20	CTCF	chr17:45216080-45216230	GM12873	blood:	n/a	n/a
21	CTCF	chr17:45216060-45216210	GM12866	blood:	n/a	n/a
22	CTCF	chr17:45216040-45216190	GM12878	blood:	n/a	n/a
23	CTCF	chr17:45216060-45216210	K562	blood:	n/a	n/a
24	CTCF	chr17:45216040-45216190	AG04450	lung:	n/a	n/a
25	CTCF	chr17:45216060-45216210	GM12873	blood:	n/a	n/a
26	CTCF	chr17:45216100-45216250	NB4	blood:	n/a	n/a
27	CTCF	chr17:45216060-45216210	RPTEC	kidney:	n/a	n/a
28	CTCF	chr17:45216060-45216210	NHLF	lung:	n/a	n/a
29	CTCF	chr17:45216040-45216190	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr17:45216040-45216190	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr17:45216060-45216210	AG09319	gingival:	n/a	n/a
32	CTCF	chr17:45216040-45216190	GM06990	blood:	n/a	n/a
33	CTCF	chr17:45216060-45216210	GM12864	blood:	n/a	n/a
34	CTCF	chr17:45216060-45216210	HAc	cerebellar:	n/a	n/a
35	CTCF	chr17:45216060-45216210	GM12878	blood:	n/a	n/a
36	CTCF	chr17:45216120-45216270	GM12875	blood:	n/a	n/a
37	CTCF	chr17:45216060-45216210	GM12870	blood:	n/a	n/a
38	CTCF	chr17:45216060-45216210	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr17:45216160-45216310	SAEC	small airway:	n/a	n/a
40	CTCF	chr17:45216060-45216210	GM12801	blood:	n/a	n/a
41	CTCF	chr17:45216060-45216210	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr17:45216080-45216230	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr17:45216060-45216210	Caco-2	colon:	n/a	n/a
44	CTCF	chr17:45216060-45216210	WI-38	lung:	n/a	n/a
45	CTCF	chr17:45216060-45216210	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr17:45216060-45216210	GM12871	blood:	n/a	n/a
47	CTCF	chr17:45216060-45216210	BJ	skin:	n/a	n/a
48	CTCF	chr17:45216060-45216210	MCF-7	breast:	n/a	n/a
49	CTCF	chr17:45216060-45216210	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr17:45216120-45216270	AG04449	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45214288..45216196-chr2:133019606..133021862,2	MCF-7	breast:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74885171	chr17:45216106-45216107	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62075657	chr17:45216132-45216133	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs62075658	chr17:45216141-45216142	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs199626169	chr17:45216160-45216161	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111227623	chr17:45216162-45216163	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146997390	chr17:45216168-45216169	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77891297	chr17:45216169-45216170	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76836152	chr17:45216172-45216173	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201928826	chr17:45216180-45216181	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs139005122	chr17:45216208-45216209	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62075659	chr17:45216210-45216211	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs62077260	chr17:45216216-45216217	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539804101	chr17:45216218-45216219	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs76715333	chr17:45216231-45216232	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs199551316	chr17:45216245-45216246	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201607934	chr17:45216247-45216248	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs199927167	chr17:45216248-45216249	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200565458	chr17:45216258-45216259	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370974520	chr17:45216290-45216291	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541793780	chr17:45216331-45216332	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11570537	chr17:45216341-45216342	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575367987	chr17:45216342-45216343	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs545881486	chr17:45216377-45216378	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563565072	chr17:45216383-45216384	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs549632866	chr17:45216389-45216390	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185459815	chr17:45216417-45216418	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564570928	chr17:45216442-45216443	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545956731	chr17:45216480-45216481	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559254478	chr17:45216504-45216505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189473236	chr17:45216531-45216532	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571287153	chr17:45216632-45216633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11570536	chr17:45216672-45216673	Weak transcription Strong transcription	n/a	n/a	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:245 , 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	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:45214800-45218400	Strong transcription	Fetal Intestine Large	intestine
5	chr17:45214800-45219000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:45214800-45219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:45214800-45219000	Weak transcription	Right Atrium	heart
8	chr17:45214800-45219000	Weak transcription	Right Ventricle	heart
9	chr17:45214800-45219000	Weak transcription	Small Intestine	intestine
10	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:45215000-45216200	Strong transcription	Thymus	Thymus
13	chr17:45215000-45219000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:45215200-45216400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
16	chr17:45215400-45217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:45215400-45218800	Strong transcription	A549	lung
18	chr17:45215600-45217000	Weak transcription	Fetal Brain Female	brain
19	chr17:45215800-45216200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:45215800-45216200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr17:45215800-45216400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr17:45215800-45216400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr17:45215800-45216400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr17:45215800-45216400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr17:45215800-45216400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr17:45215800-45216400	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr17:45215800-45216400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr17:45215800-45216400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:45215800-45216400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr17:45215800-45216400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr17:45215800-45216400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:45215800-45216400	ZNF genes & repeats	Liver	Liver
33	chr17:45215800-45216400	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr17:45215800-45216400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr17:45215800-45216400	ZNF genes & repeats	Fetal Kidney	kidney
36	chr17:45215800-45216400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr17:45215800-45216400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr17:45215800-45216400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr17:45215800-45216400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
40	chr17:45215800-45216400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr17:45215800-45216400	ZNF genes & repeats	Dnd41	blood
42	chr17:45215800-45216400	ZNF genes & repeats	GM12878-XiMat	blood
43	chr17:45215800-45216400	ZNF genes & repeats	Hela-S3	cervix
44	chr17:45215800-45216400	ZNF genes & repeats	HepG2	liver
45	chr17:45215800-45216400	ZNF genes & repeats	HSMM	muscle
46	chr17:45215800-45216400	ZNF genes & repeats	K562	blood
47	chr17:45215800-45216400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr17:45215800-45216400	ZNF genes & repeats	Osteobl	bone
49	chr17:45215800-45216600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr17:45215800-45216600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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