Variant report

Variant	esv3367909
Chromosome Location	chr17:45215045-45216126
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	GM12874	blood:	n/a	n/a
6	CTCF	chr17:45216060-45216210	RPTEC	kidney:	n/a	n/a
7	CTCF	chr17:45216060-45216210	HMEC	breast:	n/a	n/a
8	CTCF	chr17:45216060-45216210	GM12873	blood:	n/a	n/a
9	CTCF	chr17:45216060-45216210	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr17:45216060-45216210	NHLF	lung:	n/a	n/a
11	CTCF	chr17:45216120-45216270	AG04449	skin:	n/a	n/a
12	CTCF	chr17:45216060-45216210	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr17:45216060-45216210	GM12801	blood:	n/a	n/a
14	CTCF	chr17:45216060-45216210	GM12875	blood:	n/a	n/a
15	CTCF	chr17:45216060-45216210	GM12864	blood:	n/a	n/a
16	CTCF	chr17:45216060-45216210	GM12868	blood:	n/a	n/a
17	CTCF	chr17:45216060-45216210	GM12866	blood:	n/a	n/a
18	CTCF	chr17:45216120-45216270	GM12875	blood:	n/a	n/a
19	CTCF	chr17:45216040-45216190	HPF	lung:	n/a	n/a
20	CTCF	chr17:45216060-45216210	WI-38	lung:	n/a	n/a
21	CTCF	chr17:45216060-45216210	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr17:45216060-45216210	MCF-7	breast:	n/a	n/a
23	CTCF	chr17:45216080-45216230	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr17:45216060-45216210	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr17:45216060-45216210	HEK293	kidney:	n/a	n/a
26	CTCF	chr17:45216040-45216190	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr17:45216060-45216210	GM06990	blood:	n/a	n/a
28	CTCF	chr17:45216040-45216190	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr17:45216060-45216210	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr17:45216040-45216190	GM06990	blood:	n/a	n/a
31	CTCF	chr17:45216060-45216210	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr17:45216060-45216210	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr17:45216060-45216210	AG09319	gingival:	n/a	n/a
34	CTCF	chr17:45216060-45216210	GM12865	blood:	n/a	n/a
35	CTCF	chr17:45216060-45216210	GM12871	blood:	n/a	n/a
36	CTCF	chr17:45216040-45216190	GM12878	blood:	n/a	n/a
37	CTCF	chr17:45216060-45216210	GM12869	blood:	n/a	n/a
38	CTCF	chr17:45216040-45216190	HMF	breast:	n/a	n/a
39	CTCF	chr17:45216040-45216190	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr17:45216060-45216210	GM12867	blood:	n/a	n/a
41	CTCF	chr17:45216060-45216210	BJ	skin:	n/a	n/a
42	CTCF	chr17:45216060-45216210	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr17:45216040-45216190	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr17:45216100-45216250	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr17:45216060-45216210	GM12870	blood:	n/a	n/a
46	CTCF	chr17:45216080-45216230	GM12873	blood:	n/a	n/a
47	CTCF	chr17:45216080-45216230	GM12872	blood:	n/a	n/a
48	CTCF	chr17:45216040-45216190	HepG2	liver:	n/a	n/a
49	CTCF	chr17:45216100-45216250	NB4	blood:	n/a	n/a
50	CTCF	chr17:45216100-45216250	HFF-Myc	foreskin:	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: 44 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532357338	chr17:45215095-45215096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182486825	chr17:45215133-45215134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201236032	chr17:45215163-45215164	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11464067	chr17:45215171-45215172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368113433	chr17:45215172-45215173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs386386176	chr17:45215178-45215179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397694830	chr17:45215184-45215185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543127346	chr17:45215203-45215204	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11570542	chr17:45215209-45215210	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535007853	chr17:45215210-45215211	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563130520	chr17:45215242-45215243	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554700021	chr17:45215263-45215264	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568391537	chr17:45215291-45215292	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373429427	chr17:45215305-45215306	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537319386	chr17:45215353-45215354	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557246304	chr17:45215367-45215368	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576980520	chr17:45215373-45215374	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11570541	chr17:45215427-45215428	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558614703	chr17:45215442-45215443	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146057722	chr17:45215458-45215459	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186930073	chr17:45215465-45215466	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs118058271	chr17:45215514-45215515	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs8076808	chr17:45215536-45215537	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191491981	chr17:45215564-45215565	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543701831	chr17:45215597-45215598	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373299731	chr17:45215682-45215683	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11570540	chr17:45215743-45215744	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543959368	chr17:45215778-45215779	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184805890	chr17:45215793-45215794	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566149935	chr17:45215815-45215816	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs3815040	chr17:45215865-45215866	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189484779	chr17:45215905-45215906	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568077756	chr17:45215920-45215921	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113018878	chr17:45215926-45215927	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11570539	chr17:45215957-45215958	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs141829250	chr17:45215962-45215963	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540011474	chr17:45215963-45215964	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs144644006	chr17:45215966-45215967	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573409735	chr17:45215999-45216000	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs11570538	chr17:45216003-45216004	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)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368560459	chr17:45216060-45216061	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
42	rs372743228	chr17:45216071-45216072	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
43	rs76772202	chr17:45216102-45216103	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
44	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

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:244 , 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	chr17:45206400-45215200	Weak transcription	Brain Germinal Matrix	brain
3	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:45214600-45215400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:45214600-45215600	Strong transcription	Fetal Brain Female	brain
6	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:45214800-45215400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:45214800-45215400	Weak transcription	Liver	Liver
9	chr17:45214800-45215400	Weak transcription	A549	lung
10	chr17:45214800-45215400	Weak transcription	HepG2	liver
11	chr17:45214800-45215600	Weak transcription	Dnd41	blood
12	chr17:45214800-45215800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:45214800-45215800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:45214800-45215800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:45214800-45215800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:45214800-45215800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:45214800-45215800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:45214800-45215800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:45214800-45215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:45214800-45215800	Weak transcription	Primary B cells from cord blood	blood
21	chr17:45214800-45215800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr17:45214800-45215800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:45214800-45215800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr17:45214800-45215800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr17:45214800-45215800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:45214800-45215800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:45214800-45215800	Weak transcription	Brain Anterior Caudate	brain
28	chr17:45214800-45215800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:45214800-45215800	Weak transcription	Fetal Kidney	kidney
30	chr17:45214800-45215800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:45214800-45215800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:45214800-45215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:45214800-45215800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:45214800-45215800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr17:45214800-45215800	Weak transcription	GM12878-XiMat	blood
36	chr17:45214800-45215800	Weak transcription	Hela-S3	cervix
37	chr17:45214800-45215800	Weak transcription	HSMM	muscle
38	chr17:45214800-45215800	Weak transcription	K562	blood
39	chr17:45214800-45215800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr17:45214800-45215800	Weak transcription	Osteobl	bone
41	chr17:45214800-45216000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr17:45214800-45216000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:45214800-45216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:45214800-45216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:45214800-45216000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr17:45214800-45216000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:45214800-45216000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:45214800-45216000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:45214800-45216000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:45214800-45216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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