Variant report

Variant	esv3387537
Chromosome Location	chr17:45258496-45259021
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:4)
LncRNA
region (count:1)
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	chr17:45258767-45259157	K562	blood:	n/a	n/a
2	BCL3	chr17:45258765-45259050	GM12878	blood:	n/a	n/a
3	BHLHE40	chr17:45258767-45259159	K562	blood:	n/a	n/a
4	BRCA1	chr17:45258767-45259155	GM12878	blood:	n/a	n/a
5	CEBPB	chr17:45258766-45259309	K562	blood:	n/a	n/a
6	CHD2	chr17:45258764-45259152	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr17:45258767-45259156	K562	blood:	n/a	n/a
8	CTCF	chr17:45258820-45258970	AG10803	skin:	n/a	n/a
9	CTCF	chr17:45258895-45259070	Fibrobl	skin:	n/a	n/a
10	CTCF	chr17:45258840-45258990	GM12878	blood:	n/a	n/a
11	CTCF	chr17:45258860-45259010	MCF-7	breast:	n/a	n/a
12	CTCF	chr17:45258850-45259096	MCF-7	breast:	n/a	n/a
13	CTCF	chr17:45258900-45259050	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr17:45258860-45259010	RPTEC	kidney:	n/a	n/a
15	CTCF	chr17:45258940-45259090	GM12872	blood:	n/a	n/a
16	CTCF	chr17:45258860-45259010	HFF	foreskin:	n/a	n/a
17	CTCF	chr17:45258840-45258990	HMEC	breast:	n/a	n/a
18	CTCF	chr17:45258932-45259071	GM12891	blood:	n/a	n/a
19	CTCF	chr17:45258840-45258990	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr17:45258860-45259010	GM12867	blood:	n/a	n/a
21	CTCF	chr17:45258840-45258990	GM12875	blood:	n/a	n/a
22	CTCF	chr17:45258934-45259036	GM19238	blood:	n/a	n/a
23	CTCF	chr17:45258860-45259010	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr17:45258960-45259110	AG09319	gingival:	n/a	n/a
25	CTCF	chr17:45258820-45258970	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr17:45258840-45258990	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr17:45258920-45259070	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr17:45258840-45258990	GM12872	blood:	n/a	n/a
29	CTCF	chr17:45258840-45258990	GM12865	blood:	n/a	n/a
30	CTCF	chr17:45258932-45259065	GM12892	blood:	n/a	n/a
31	CTCF	chr17:45258887-45259100	MCF-7	breast:	n/a	n/a
32	CTCF	chr17:45258840-45258990	GM12873	blood:	n/a	n/a
33	CTCF	chr17:45258930-45259002	GM13976	blood:	n/a	n/a
34	CTCF	chr17:45258920-45259070	AG09319	gingival:	n/a	n/a
35	CTCF	chr17:45258951-45258973	GM13977	blood:	n/a	n/a
36	CTCF	chr17:45258880-45259030	RPTEC	kidney:	n/a	n/a
37	CTCF	chr17:45258947-45258986	GM10248	blood:	n/a	n/a
38	CTCF	chr17:45258928-45259030	A549	lung:	n/a	n/a
39	CTCF	chr17:45258920-45259070	A549	lung:	n/a	n/a
40	CTCF	chr17:45258880-45259030	HMF	breast:	n/a	n/a
41	CTCF	chr17:45258900-45259050	HL-60	blood:	n/a	n/a
42	CTCF	chr17:45258932-45259062	GM19239	blood:	n/a	n/a
43	CTCF	chr17:45258860-45259010	AG04450	lung:	n/a	n/a
44	CTCF	chr17:45258820-45258970	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr17:45258820-45258970	GM12878	blood:	n/a	n/a
46	CTCF	chr17:45258957-45258997	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr17:45258860-45259010	GM12866	blood:	n/a	n/a
48	CTCF	chr17:45258937-45258991	GM10266	blood:	n/a	n/a
49	CTCF	chr17:45258820-45258970	GM12874	blood:	n/a	n/a
50	CTCF	chr17:45258907-45258997	GM20000	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45257479..45260473-chr2:133018355..133021074,2	MCF-7	breast:
2	chr17:45213650..45214313-chr17:45258453..45258970,2	MCF-7	breast:
3	chr17:45256968..45259015-chr17:45265544..45267226,2	MCF-7	breast:
4	chr17:45257003..45258810-chr17:45262193..45263942,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPRML-7	chr17:45258648-45259003	NONHSAT054290

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	chromatin interactions
ENSG00000233786	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 120 )

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	rs544364019	chr17:45258531-45258532	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2905371	chr17:45258554-45258555	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12936578	chr17:45258572-45258573	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544698743	chr17:45258580-45258581	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552740004	chr17:45258621-45258622	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34104273	chr17:45258652-45258653	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs368926843	chr17:45258660-45258661	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs372949976	chr17:45258663-45258664	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs370953694	chr17:45258670-45258671	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs71365050	chr17:45258672-45258673	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs575218423	chr17:45258677-45258678	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs545508313	chr17:45258718-45258719	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs376297134	chr17:45258723-45258724	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs183810492	chr17:45258738-45258739	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs376119729	chr17:45258764-45258765	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs9909538	chr17:45258781-45258782	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs9909569	chr17:45258818-45258819	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs11570463	chr17:45258867-45258868	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368256588	chr17:45258880-45258881	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs377237963	chr17:45258886-45258887	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs375494003	chr17:45258890-45258891	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs147156754	chr17:45258892-45258893	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs376447814	chr17:45258903-45258904	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs549418616	chr17:45258925-45258926	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs115199788	chr17:45258927-45258928	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs373344958	chr17:45258943-45258944	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs62077275	chr17:45258951-45258952	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs62077276	chr17:45258954-45258955	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs11570462	chr17:45258959-45258960	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs3208627	chr17:45258971-45258972	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs146584045	chr17:45258974-45258975	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs75133586	chr17:45259007-45259008	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 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:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45249600-45258800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:45249600-45258800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:45249600-45258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:45249600-45258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45249600-45258800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr17:45249600-45258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:45249600-45258800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:45249600-45258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:45249600-45258800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:45249600-45258800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:45249600-45258800	Weak transcription	Aorta	Aorta
12	chr17:45249600-45258800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:45249600-45258800	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:45249600-45258800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr17:45249600-45258800	Weak transcription	Brain Substantia Nigra	brain
16	chr17:45249600-45258800	Weak transcription	Colonic Mucosa	Colon
17	chr17:45249600-45258800	Weak transcription	Esophagus	oesophagus
18	chr17:45249600-45258800	Weak transcription	Fetal Brain Male	brain
19	chr17:45249600-45258800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:45249600-45258800	Weak transcription	Gastric	stomach
21	chr17:45249600-45258800	Weak transcription	Pancreas	Pancrea
22	chr17:45249600-45258800	Weak transcription	Psoas Muscle	Psoas
23	chr17:45249600-45258800	Weak transcription	Right Atrium	heart
24	chr17:45249600-45258800	Weak transcription	Small Intestine	intestine
25	chr17:45249600-45258800	Weak transcription	Stomach Mucosa	stomach
26	chr17:45249800-45258800	Strong transcription	Fetal Thymus	thymus
27	chr17:45250000-45258800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:45250200-45258800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:45250400-45258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr17:45250400-45258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr17:45251200-45258800	Strong transcription	Fetal Stomach	stomach
32	chr17:45251200-45259200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:45251200-45260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:45251600-45258800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:45251800-45258800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:45252600-45259200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:45252800-45258800	Strong transcription	Thymus	Thymus
38	chr17:45253000-45258800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr17:45253200-45265200	Weak transcription	Brain Germinal Matrix	brain
40	chr17:45253400-45258800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr17:45254200-45259200	Strong transcription	Osteobl	bone
42	chr17:45254400-45258800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:45254600-45258800	Strong transcription	Fetal Intestine Small	intestine
44	chr17:45255000-45258800	Weak transcription	Right Ventricle	heart
45	chr17:45255200-45263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:45255600-45258800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:45255600-45258800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:45255800-45258800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr17:45256200-45258800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:45256400-45258800	Weak transcription	Ovary	ovary

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