Variant report

Variant	esv3323744
Chromosome Location	chr17:45232650-45234299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:240)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:240 , 50 per page) page: 1 2 3 4 5

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	chr17:45234130-45234799	GM12878	blood:	n/a	n/a
7	BRCA1	chr17:45234133-45234796	Hela-S3	cervix:	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	chr17:45234130-45234796	K562	blood:	n/a	n/a
12	CHD2	chr17:45234136-45234628	GM12878	blood:	n/a	n/a
13	CHD2	chr17:45234137-45234585	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr17:45234240-45234390	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr17:45234240-45234390	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr17:45234260-45234410	HCM	heart:	n/a	n/a
17	CTCF	chr17:45234240-45234390	Caco-2	colon:	n/a	n/a
18	CTCF	chr17:45234280-45234430	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:45234280-45234430	HAc	cerebellar:	n/a	n/a
20	CTCF	chr17:45234260-45234410	HVMF	connective:	n/a	n/a
21	CTCF	chr17:45234280-45234430	GM12866	blood:	n/a	n/a
22	CTCF	chr17:45234280-45234430	GM12871	blood:	n/a	n/a
23	CTCF	chr17:45234240-45234390	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr17:45234145-45234626	K562	blood:	n/a	n/a
25	CTCF	chr17:45234280-45234430	GM12867	blood:	n/a	n/a
26	CTCF	chr17:45234240-45234390	AG09309	skin:	n/a	n/a
27	CTCF	chr17:45234280-45234430	BE2_C	brain:	n/a	n/a
28	CTCF	chr17:45234260-45234410	HMEC	breast:	n/a	n/a
29	CTCF	chr17:45234240-45234390	HMF	breast:	n/a	n/a
30	CTCF	chr17:45234240-45234390	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr17:45234280-45234430	AG04449	skin:	n/a	n/a
32	CTCF	chr17:45234260-45234410	GM12866	blood:	n/a	n/a
33	CTCF	chr17:45234270-45234473	ProgFib	skin:	n/a	n/a
34	CTCF	chr17:45234291-45234442	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr17:45234260-45234410	AG10803	skin:	n/a	n/a
36	CTCF	chr17:45234260-45234410	HCT-116	colon:	n/a	n/a
37	CTCF	chr17:45234240-45234390	GM12878	blood:	n/a	n/a
38	CTCF	chr17:45234290-45234429	Gliobla	brain:	n/a	n/a
39	CTCF	chr17:45234260-45234410	WI-38	lung:	n/a	n/a
40	CTCF	chr17:45234240-45234390	GM12865	blood:	n/a	n/a
41	CTCF	chr17:45234280-45234430	GM12869	blood:	n/a	n/a
42	CTCF	chr17:45234240-45234390	AG10803	skin:	n/a	n/a
43	CTCF	chr17:45234240-45234390	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr17:45234278-45234452	GM20000	blood:	n/a	n/a
45	CTCF	chr17:45234240-45234390	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr17:45234240-45234390	SAEC	small airway:	n/a	n/a
47	CTCF	chr17:45234260-45234410	HAc	cerebellar:	n/a	n/a
48	CTCF	chr17:45234240-45234390	HPF	lung:	n/a	n/a
49	CTCF	chr17:45234295-45234463	Lung_OC	lung:	n/a	n/a
50	CTCF	chr17:45234240-45234390	K562	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	chr17:45230921..45233379-chr17:45247997..45250446,2	K562	blood:
3	chr17:45230921..45233018-chr17:45247997..45250625,2	K562	blood:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	chromatin interactions
ENSG00000178852	chromatin interactions
ENSG00000263293	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186663950	chr17:45232650-45232651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200923883	chr17:45232674-45232675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533552177	chr17:45232681-45232682	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547244539	chr17:45232697-45232698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201601589	chr17:45232702-45232703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11570490	chr17:45232730-45232731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11570489	chr17:45232755-45232756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547990423	chr17:45232758-45232759	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11570488	chr17:45232772-45232773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150913248	chr17:45232802-45232803	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35393637	chr17:45232863-45232864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139417683	chr17:45232891-45232892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570443794	chr17:45232898-45232899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539222058	chr17:45232972-45232973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149606787	chr17:45232989-45232990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572715704	chr17:45233037-45233038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535900704	chr17:45233058-45233059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376451975	chr17:45233122-45233123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144338717	chr17:45233136-45233137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544316520	chr17:45233167-45233168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs59821284	chr17:45233189-45233190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59470054	chr17:45233191-45233192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71375395	chr17:45233194-45233195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71375396	chr17:45233199-45233200	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140772863	chr17:45233226-45233227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11570487	chr17:45233266-45233267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540946925	chr17:45233357-45233358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184782835	chr17:45233420-45233421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560629844	chr17:45233454-45233455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529470312	chr17:45233470-45233471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11570486	chr17:45233507-45233508	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561670374	chr17:45233512-45233513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530508270	chr17:45233541-45233542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187998130	chr17:45233598-45233599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570134030	chr17:45233609-45233610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190731720	chr17:45233615-45233616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533022716	chr17:45233650-45233651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375434475	chr17:45233651-45233652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550313556	chr17:45233652-45233653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546498400	chr17:45233666-45233667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192566247	chr17:45233668-45233669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535332127	chr17:45233677-45233678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555816659	chr17:45233694-45233695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569281349	chr17:45233702-45233703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571619490	chr17:45233705-45233706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538358528	chr17:45233726-45233727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183327589	chr17:45233732-45233733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558152036	chr17:45233753-45233754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112016766	chr17:45233837-45233838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35248358	chr17:45233846-45233847	Weak transcription Strong transcription	n/a	n/a	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:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:45220000-45232800	Strong transcription	A549	lung
6	chr17:45221400-45232800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:45221400-45232800	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:45221400-45233000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:45221400-45233000	Strong transcription	NH-A	brain
10	chr17:45221400-45233200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr17:45221400-45233200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr17:45221400-45233400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:45221400-45233400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:45221400-45233400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:45221400-45233400	Strong transcription	Liver	Liver
16	chr17:45221400-45233400	Strong transcription	Fetal Thymus	thymus
17	chr17:45221400-45233600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:45221400-45233600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:45221400-45234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:45221400-45234200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:45221400-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr17:45221400-45234200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:45221400-45234200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:45221400-45234200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:45221400-45234200	Weak transcription	Aorta	Aorta
26	chr17:45221400-45234200	Weak transcription	Colonic Mucosa	Colon
27	chr17:45221400-45234200	Weak transcription	Esophagus	oesophagus
28	chr17:45221400-45234200	Weak transcription	Fetal Brain Male	brain
29	chr17:45221400-45234200	Weak transcription	Fetal Heart	heart
30	chr17:45221400-45234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr17:45221400-45234200	Weak transcription	Pancreas	Pancrea
32	chr17:45221400-45234200	Weak transcription	Right Ventricle	heart
33	chr17:45221400-45234200	Weak transcription	Small Intestine	intestine
34	chr17:45221400-45234200	Weak transcription	Stomach Mucosa	stomach
35	chr17:45221400-45234200	Strong transcription	Dnd41	blood
36	chr17:45221600-45233000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:45221800-45233400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:45222200-45233600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:45222400-45233200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:45222400-45233200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr17:45222400-45233200	Strong transcription	GM12878-XiMat	blood
42	chr17:45222400-45233400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:45222400-45233400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr17:45222400-45233400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr17:45222400-45233400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr17:45222400-45233400	Strong transcription	Fetal Muscle Leg	muscle
47	chr17:45222400-45233400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr17:45222400-45233800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr17:45222600-45233200	Strong transcription	Placenta	Placenta
50	chr17:45222600-45234200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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