Variant report

Variant	nsv908693
Chromosome Location	chr17:66619054-66647840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:66647431-66647451	HepG2	liver:	n/a	n/a
2	CEBPB	chr17:66644279-66644293	HepG2	liver:	n/a	n/a
3	CEBPB	chr17:66647359-66647491	A549	lung:	n/a	n/a
4	CEBPB	chr17:66647438-66647469	IMR90	lung:	n/a	n/a
5	CTCF	chr17:66630607-66630777	A549	lung:	n/a	n/a
6	CTCF	chr17:66630620-66630770	HepG2	liver:	n/a	n/a
7	CTCF	chr17:66630600-66630750	MCF-7	breast:	n/a	n/a
8	CTCF	chr17:66630629-66630739	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr17:66630586-66630800	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:66638200-66638350	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr17:66630667-66630748	GM12892	blood:	n/a	n/a
12	CTCF	chr17:66630529-66630847	K562	blood:	n/a	n/a
13	CTCF	chr17:66630520-66630670	WI-38	lung:	n/a	n/a
14	CTCF	chr17:66630540-66630782	K562	blood:	n/a	n/a
15	CTCF	chr17:66630560-66630710	BE2_C	brain:	n/a	n/a
16	CTCF	chr17:66630640-66630790	BE2_C	brain:	n/a	n/a
17	CTCF	chr17:66630522-66630827	K562	blood:	n/a	n/a
18	CTCF	chr17:66630563-66630801	Gliobla	brain:	n/a	n/a
19	CTCF	chr17:66630560-66630710	A549	lung:	n/a	n/a
20	CTCF	chr17:66630620-66630770	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr17:66630580-66630730	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:66630534-66630809	HepG2	liver:	n/a	n/a
23	CTCF	chr17:66630640-66630790	K562	blood:	n/a	n/a
24	CTCF	chr17:66630467-66630900	K562	blood:	n/a	n/a
25	CTCF	chr17:66630580-66630730	HepG2	liver:	n/a	n/a
26	CTCF	chr17:66630560-66630710	AG09309	skin:	n/a	n/a
27	CTCF	chr17:66630592-66630814	MCF-7	breast:	n/a	n/a
28	CTCF	chr17:66630580-66630730	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr17:66630649-66630751	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr17:66634047-66634138	GM10248	blood:	n/a	n/a
31	CTCF	chr17:66630609-66630803	MCF-7	breast:	n/a	n/a
32	CTCF	chr17:66630594-66630822	MCF-7	breast:	n/a	n/a
33	CTCF	chr17:66630583-66630800	MCF-7	breast:	n/a	n/a
34	CTCF	chr17:66630620-66630770	A549	lung:	n/a	n/a
35	CTCF	chr17:66630700-66630713	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr17:66630600-66630750	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr17:66630560-66630710	GM12872	blood:	n/a	n/a
38	CTCF	chr17:66630573-66630817	K562	blood:	n/a	n/a
39	CTCF	chr17:66630600-66630750	K562	blood:	n/a	n/a
40	CTCF	chr17:66630580-66630779	HepG2	liver:	n/a	n/a
41	CTCF	chr17:66630630-66630750	Fibrobl	skin:	n/a	n/a
42	CTCF	chr17:66624300-66624450	GM12873	blood:	n/a	n/a
43	CTCF	chr17:66645480-66645630	Caco-2	colon:	n/a	n/a
44	CTCFL	chr17:66630570-66630747	K562	blood:	n/a	n/a
45	ESR1	chr17:66621332-66621670	ECC-1	luminal epithelium:	n/a	n/a
46	ESR1	chr17:66621299-66621664	ECC-1	luminal epithelium:	n/a	n/a
47	FAM48A	chr17:66624579-66624779	GM12878	blood:	n/a	n/a
48	FOS	chr17:66620612-66620841	MCF10A-Er-Src	breast:	n/a	chr17:66620726-66620733 chr17:66620682-66620691 chr17:66620728-66620737
49	FOS	chr17:66642779-66643027	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr17:66620594-66620844	MCF10A-Er-Src	breast:	n/a	chr17:66620726-66620733 chr17:66620682-66620691 chr17:66620728-66620737

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66637981..66640873-chr7:98975754..98977781,2	MCF-7	breast:
2	chr1:205304760..205305355-chr17:66637640..66638501,2	MCF-7	breast:
3	chr17:66634857..66636649-chr17:66638616..66641473,2	MCF-7	breast:
4	chr17:66630097..66631029-chr17:66755701..66756657,4	MCF-7	breast:
5	chr17:66616321..66619928-chr17:66623221..66625892,3	K562	blood:
6	chr17:66634857..66636649-chr17:66638616..66641473,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAR1A-1	chr17:66624295-66624327	ENSG00000267659.1
2	lnc-PRKAR1A-1	chr17:66638811-66638970	NONHSAT055548
3	lnc-PRKAR1A-1	chr17:66638378-66638536	NONHSAT055548
4	lnc-PRKAR1A-1	chr17:66638811-66638883	XLOC_012291
5	lnc-PRKAR1A-1	chr17:66643793-66644037	NONHSAT055550
6	lnc-PRKAR1A-1	chr17:66638397-66638536	NONHSAT055549
7	lnc-PRKAR1A-1	chr17:66638811-66638906	ENSG00000267659.1
8	lnc-PRKAR1A-1	chr17:66624244-66624327	ENSG00000267659.1
9	lnc-PRKAR1A-1	chr17:66638605-66638895	NONHSAT055549
10	lnc-PRKAR1A-1	chr17:66638398-66638536	XLOC_012291
11	lnc-FAM20A-3	chr17:66640126-66640206	ucscGeneNc_uc002jis_2
12	lnc-PRKAR1A-1	chr17:66638639-66638906	NONHSAT055550

No data

Variant related genes	Relation type
ENSG00000267659	TF binding region
ENSG00000267659	chromatin interactions
ITPKB	miRNA target sites
RNF2	miRNA target sites

Extended variants
information (count: 841 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4968906	chr17:66619054-66619055	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11652528	chr17:66619113-66619114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575548076	chr17:66619131-66619132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11652570	chr17:66619148-66619149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546461421	chr17:66619152-66619153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138610715	chr17:66619163-66619164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111546475	chr17:66619173-66619174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149292077	chr17:66619175-66619176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183594376	chr17:66619177-66619178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559410247	chr17:66619255-66619256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529784637	chr17:66619298-66619299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567851070	chr17:66619355-66619356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77990345	chr17:66619505-66619506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143410410	chr17:66619510-66619511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376138033	chr17:66619512-66619513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375515315	chr17:66619541-66619542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71144610	chr17:66619542-66619543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147667892	chr17:66619546-66619547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7405567	chr17:66619548-66619549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs8079296	chr17:66619550-66619551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542793595	chr17:66619564-66619565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60854171	chr17:66619569-66619570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs137978581	chr17:66619645-66619646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530852668	chr17:66619651-66619652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143429961	chr17:66619736-66619737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34885168	chr17:66619752-66619753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570594518	chr17:66619759-66619760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528296497	chr17:66619778-66619779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147152082	chr17:66619822-66619823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188538042	chr17:66619884-66619885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538280844	chr17:66619933-66619934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116008092	chr17:66619955-66619956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2952310	chr17:66619973-66619974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs568890527	chr17:66619987-66619988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539794257	chr17:66620010-66620011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76143261	chr17:66620017-66620018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78693686	chr17:66620021-66620022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571623177	chr17:66620079-66620080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539145839	chr17:66620098-66620099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111964263	chr17:66620200-66620201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540826976	chr17:66620294-66620295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555961179	chr17:66620311-66620312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554275062	chr17:66620318-66620319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577148701	chr17:66620348-66620349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368703404	chr17:66620369-66620370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191406915	chr17:66620386-66620387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541921749	chr17:66620396-66620397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142475223	chr17:66620406-66620407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530508963	chr17:66620414-66620415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373802412	chr17:66620417-66620418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66609000-66621000	Weak transcription	Esophagus	oesophagus
2	chr17:66610000-66624200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:66618800-66624200	Weak transcription	Osteobl	bone
4	chr17:66619200-66619400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:66619400-66624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:66619800-66621200	Enhancers	Placenta	Placenta
7	chr17:66620200-66621000	Enhancers	NHDF-Ad	bronchial
8	chr17:66620600-66621200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:66620600-66621200	Enhancers	HMEC	breast
10	chr17:66620600-66621800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:66620600-66622400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:66620800-66621200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:66620800-66621200	Enhancers	Ovary	ovary
14	chr17:66620800-66621800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:66621000-66621800	Enhancers	Esophagus	oesophagus
16	chr17:66621200-66621800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:66621200-66624000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:66621200-66624000	Weak transcription	Placenta	Placenta
19	chr17:66621200-66624000	Weak transcription	Ovary	ovary
20	chr17:66621200-66624000	Weak transcription	HMEC	breast
21	chr17:66621800-66624200	Weak transcription	Esophagus	oesophagus
22	chr17:66622400-66624200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:66623200-66624600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:66623400-66624600	Enhancers	Stomach Mucosa	stomach
25	chr17:66623600-66624800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:66623800-66624000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:66623800-66624200	Enhancers	Fetal Intestine Large	intestine
28	chr17:66623800-66624400	Enhancers	Fetal Intestine Small	intestine
29	chr17:66623800-66625200	Enhancers	Fetal Kidney	kidney
30	chr17:66624000-66624400	Enhancers	Placenta	Placenta
31	chr17:66624000-66624400	Enhancers	Gastric	stomach
32	chr17:66624000-66624400	Enhancers	Pancreas	Pancrea
33	chr17:66624000-66624400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr17:66624000-66624400	Enhancers	Spleen	Spleen
35	chr17:66624000-66624600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:66624000-66624600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr17:66624000-66624600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:66624000-66624600	Enhancers	Ovary	ovary
39	chr17:66624000-66624600	Enhancers	Right Atrium	heart
40	chr17:66624000-66624600	Enhancers	NHEK	skin
41	chr17:66624000-66624800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:66624000-66625000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr17:66624000-66625000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:66624000-66625000	Enhancers	HMEC	breast
45	chr17:66624200-66624400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:66624200-66624400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr17:66624200-66624600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr17:66624200-66624600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr17:66624200-66624600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr17:66624200-66624600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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