Variant report

Variant	esv3421892
Chromosome Location	chr17:45985893-45986472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45985387..45988064-chr17:45989640..45992704,3	MCF-7	breast:
2	chr17:45980692..45982810-chr17:45985460..45986987,2	MCF-7	breast:
3	chr17:45985212..45987744-chr17:46022606..46024465,2	MCF-7	breast:
4	chr17:45985712..45987886-chr17:46012163..46013782,2	MCF-7	breast:
5	chr17:45985099..45987381-chr17:45994807..45997367,2	MCF-7	breast:
6	chr17:45981397..45984686-chr17:45985250..45989369,5	K562	blood:
7	chr17:45922908..45925647-chr17:45983799..45986055,2	MCF-7	breast:
8	chr17:45985608..45987124-chr17:46032994..46035292,2	MCF-7	breast:
9	chr17:45985355..45989671-chr17:46017595..46019779,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234494	chromatin interactions
ENSG00000263798	chromatin interactions
ENSG00000108439	chromatin interactions
ENSG00000167183	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546209311	chr17:45985922-45985923	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs560855858	chr17:45985923-45985924	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs528954525	chr17:45985924-45985925	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs368919036	chr17:45985952-45985953	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs191366009	chr17:45985994-45985995	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs569428540	chr17:45986014-45986015	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs185471919	chr17:45986164-45986165	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs558457487	chr17:45986209-45986210	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190773796	chr17:45986211-45986212	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs192887745	chr17:45986212-45986213	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs148860361	chr17:45986213-45986214	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs550170446	chr17:45986214-45986215	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs116574614	chr17:45986216-45986217	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs7211859	chr17:45986282-45986283	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs376802024	chr17:45986284-45986285	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs16949318	chr17:45986328-45986329	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs185477912	chr17:45986329-45986330	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs544016701	chr17:45986331-45986332	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs564010386	chr17:45986339-45986340	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs78162322	chr17:45986365-45986366	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs533059548	chr17:45986437-45986438	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs143488389	chr17:45986441-45986442	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs147987944	chr17:45986458-45986459	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Urothelial carcinoma	21177765	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45974600-45992000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:45975000-45993400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:45975200-45999400	Weak transcription	Fetal Kidney	kidney
4	chr17:45975200-46000400	Weak transcription	Small Intestine	intestine
5	chr17:45975600-45992800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:45975800-46000600	Weak transcription	Hela-S3	cervix
7	chr17:45976400-45993200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:45976400-45995400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:45976800-45987000	Strong transcription	Fetal Intestine Small	intestine
10	chr17:45977600-45992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:45977600-45995000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:45977800-45992000	Weak transcription	Dnd41	blood
13	chr17:45977800-45992600	Weak transcription	Fetal Intestine Large	intestine
14	chr17:45977800-45992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:45977800-45992800	Weak transcription	GM12878-XiMat	blood
16	chr17:45979200-45987400	Weak transcription	Thymus	Thymus
17	chr17:45979800-46000400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr17:45980000-45992600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:45980000-45992800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:45980000-45992800	Weak transcription	Brain Germinal Matrix	brain
21	chr17:45980200-45986000	Enhancers	Fetal Muscle Trunk	muscle
22	chr17:45980200-46001800	Weak transcription	K562	blood
23	chr17:45980200-46002400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:45980200-46006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr17:45980400-45992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:45980400-45993600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:45980800-45987000	Enhancers	Left Ventricle	heart
28	chr17:45980800-45992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:45981600-45986000	Enhancers	Fetal Heart	heart
30	chr17:45981800-45987200	Enhancers	Adipose Nuclei	Adipose
31	chr17:45982200-45988400	Strong transcription	Primary T cells from cord blood	blood
32	chr17:45982400-46000600	Weak transcription	Stomach Mucosa	stomach
33	chr17:45982600-45992600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:45982600-45992600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:45982600-45992800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:45982600-45996200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:45982800-45993000	Weak transcription	NHEK	skin
38	chr17:45983000-45988200	Weak transcription	Liver	Liver
39	chr17:45983000-45993800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr17:45983000-46001000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:45983000-46004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:45983200-45988000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr17:45983200-45992400	Weak transcription	Colonic Mucosa	Colon
44	chr17:45983200-45992600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:45983200-45992600	Weak transcription	Gastric	stomach
46	chr17:45983200-45993200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:45983200-45995200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr17:45983200-45995200	Weak transcription	HUVEC	blood vessel
49	chr17:45983200-46000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr17:45983200-46001200	Weak transcription	A549	lung

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