Variant report

Variant	esv3425719
Chromosome Location	chr17:45649353-45655351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:45655314-45655358	ProgFib	skin:	n/a	n/a
2	JUND	chr17:45652113-45652290	HepG2	liver:	n/a	n/a
3	PAX5	chr17:45650118-45650351	GM12878	blood:	n/a	n/a
4	PAX5	chr17:45650037-45650232	GM12878	blood:	n/a	n/a
5	PAX5	chr17:45651908-45652175	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:45651009-45651069	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:45651018-45651083	ProgFib	skin:	n/a	n/a
8	POLR2A	chr17:45649533-45649568	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:45652340-45652376	MCF-7	breast:	n/a	n/a
10	POLR2A	chr17:45651996-45652307	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:45650200-45650222	MCF-7	breast:	n/a	n/a
12	POLR2A	chr17:45651079-45651117	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:45651887-45651994	MCF-7	breast:	n/a	n/a
14	POLR2A	chr17:45652021-45652060	ProgFib	skin:	n/a	n/a
15	POLR2A	chr17:45651984-45652103	A549	lung:	n/a	n/a
16	POLR2A	chr17:45649373-45649452	MCF-7	breast:	n/a	n/a
17	POLR2A	chr17:45655047-45655173	MCF-7	breast:	n/a	n/a
18	POLR2A	chr17:45652095-45652292	ProgFib	skin:	n/a	n/a
19	POLR2A	chr17:45654430-45654451	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:45654577-45654611	MCF-7	breast:	n/a	n/a
21	POLR2A	chr17:45654614-45654632	MCF-7	breast:	n/a	n/a
22	POLR2A	chr17:45649469-45649524	MCF-7	breast:	n/a	n/a
23	POLR2A	chr17:45651142-45651165	MCF-7	breast:	n/a	n/a
24	POLR2A	chr17:45655325-45655388	A549	lung:	n/a	n/a
25	POLR2A	chr17:45652061-45652080	ProgFib	skin:	n/a	n/a
26	POLR2A	chr17:45654659-45654702	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:45652134-45652182	A549	lung:	n/a	n/a
28	POLR2A	chr17:45649576-45649614	MCF-7	breast:	n/a	n/a
29	POLR2A	chr17:45652106-45652110	A549	lung:	n/a	n/a
30	SIN3AK20	chr17:45652174-45652283	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr17:45651948-45652097	HepG2	liver:	n/a	n/a
32	SIX5	chr17:45654393-45654550	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 212 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367570724	chr17:45649357-45649358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371695650	chr17:45649358-45649359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560460396	chr17:45649362-45649363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376225659	chr17:45649378-45649379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151315594	chr17:45649397-45649398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549192977	chr17:45649400-45649401	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543963149	chr17:45649408-45649409	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs34187971	chr17:45649409-45649410	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs569383526	chr17:45649422-45649423	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192320631	chr17:45649444-45649445	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139412081	chr17:45649445-45649446	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs4060764	chr17:45649454-45649455	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565402104	chr17:45649467-45649468	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs4060765	chr17:45649470-45649471	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567415583	chr17:45649506-45649507	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4060766	chr17:45649529-45649530	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4060767	chr17:45649578-45649579	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571515525	chr17:45649623-45649624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4060768	chr17:45649648-45649649	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534527059	chr17:45649675-45649676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183290864	chr17:45649678-45649679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9635763	chr17:45649694-45649695	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs536488309	chr17:45649737-45649738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59690898	chr17:45649844-45649845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556334567	chr17:45649854-45649855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575300499	chr17:45649865-45649866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2317811	chr17:45649890-45649891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543931106	chr17:45649907-45649908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2317812	chr17:45649910-45649911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57724999	chr17:45649982-45649983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188784047	chr17:45650015-45650016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540218032	chr17:45650024-45650025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112754852	chr17:45650033-45650034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560476460	chr17:45650070-45650071	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201463466	chr17:45650090-45650091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113298314	chr17:45650110-45650111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113627098	chr17:45650126-45650127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529202598	chr17:45650137-45650138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112494622	chr17:45650147-45650148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113070139	chr17:45650187-45650188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12603290	chr17:45650196-45650197	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs112107955	chr17:45650205-45650206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562504835	chr17:45650211-45650212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71377314	chr17:45650226-45650227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571463242	chr17:45650281-45650282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112682090	chr17:45650290-45650291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111767015	chr17:45650298-45650299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2317813	chr17:45650369-45650370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143687448	chr17:45650372-45650373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4060755	chr17:45650383-45650384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45670600	Weak transcription	Lung	lung
2	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
3	chr17:45610000-45676800	Weak transcription	Ovary	ovary
4	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
6	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:45610600-45662200	Weak transcription	HSMM	muscle
8	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45610800-45669000	Weak transcription	NH-A	brain
11	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
12	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
14	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
15	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
18	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
20	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
24	chr17:45629800-45673400	Weak transcription	K562	blood
25	chr17:45635400-45670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:45637400-45667200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr17:45637400-45669000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:45637400-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:45638000-45667400	Weak transcription	Primary T cells from cord blood	blood
31	chr17:45638000-45667400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:45638200-45667400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr17:45638800-45669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45639200-45656400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr17:45639400-45659200	Weak transcription	Liver	Liver
36	chr17:45639400-45659400	Weak transcription	A549	lung
37	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
38	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
39	chr17:45640000-45649400	Weak transcription	Aorta	Aorta
40	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
43	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
44	chr17:45644600-45673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:45644600-45673600	Weak transcription	Hela-S3	cervix
46	chr17:45645000-45673800	Weak transcription	HMEC	breast
47	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:45646600-45649600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:45646600-45650400	Weak transcription	Small Intestine	intestine
50	chr17:45646800-45649600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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