Variant report

Variant	esv3338467
Chromosome Location	chr17:45655953-45660551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr17:45656460-45656842	HepG2	liver:	n/a	n/a
2	FOXA1	chr17:45659827-45660279	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:45656500-45656518	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:45656558-45656581	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:45656189-45656211	MCF-7	breast:	n/a	n/a
6	POLR2A	chr17:45658391-45658599	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:45655991-45656181	MCF-7	breast:	n/a	n/a
8	POLR2A	chr17:45658872-45658899	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:45660151-45660152	MCF-7	breast:	n/a	n/a
10	POLR2A	chr17:45660501-45660533	A549	lung:	n/a	n/a
11	POLR2A	chr17:45658148-45658200	MCF-7	breast:	n/a	n/a
12	POLR2A	chr17:45658632-45658833	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:45657913-45657951	MCF-7	breast:	n/a	n/a
14	POLR2A	chr17:45656519-45656536	MCF-7	breast:	n/a	n/a
15	POLR2A	chr17:45656185-45656389	ProgFib	skin:	n/a	n/a
16	POLR2A	chr17:45656261-45656268	MCF-7	breast:	n/a	n/a
17	POLR2A	chr17:45657958-45658141	MCF-7	breast:	n/a	n/a
18	POLR2A	chr17:45656227-45656258	MCF-7	breast:	n/a	n/a
19	POLR2A	chr17:45659459-45659585	ProgFib	skin:	n/a	n/a
20	POLR2A	chr17:45656343-45656362	MCF-7	breast:	n/a	n/a
21	POLR2A	chr17:45656297-45656340	MCF-7	breast:	n/a	n/a
22	POLR2A	chr17:45656278-45656287	MCF-7	breast:	n/a	n/a
23	POLR2A	chr17:45655967-45655973	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528394130	chr17:45656180-45656181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs190829214	chr17:45656255-45656256	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs117282667	chr17:45656300-45656301	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537289587	chr17:45656332-45656333	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550498009	chr17:45656350-45656351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570924090	chr17:45656381-45656382	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2663764	chr17:45656429-45656430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139912984	chr17:45656432-45656433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553418170	chr17:45656442-45656443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573246801	chr17:45656458-45656459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535826034	chr17:45656538-45656539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556058934	chr17:45656602-45656603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575846662	chr17:45656656-45656657	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112266834	chr17:45656738-45656739	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs202147565	chr17:45656760-45656761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377685344	chr17:45656817-45656818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2661174	chr17:45656826-45656827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544795051	chr17:45656862-45656863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76095854	chr17:45656935-45656936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564482277	chr17:45656944-45656945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577150093	chr17:45656974-45656975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576546811	chr17:45656976-45656977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545467025	chr17:45657002-45657003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559004148	chr17:45657017-45657018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528112368	chr17:45657031-45657032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547770749	chr17:45657058-45657059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562058726	chr17:45657071-45657072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541539589	chr17:45657091-45657092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530669175	chr17:45657098-45657099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550759620	chr17:45657100-45657101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113785220	chr17:45657155-45657156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539959535	chr17:45657175-45657176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183052291	chr17:45657226-45657227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76581951	chr17:45657293-45657294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201403321	chr17:45657297-45657298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187021027	chr17:45657319-45657320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199703416	chr17:45657329-45657330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535898954	chr17:45657354-45657355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111304603	chr17:45657374-45657375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2611882	chr17:45657402-45657403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145391023	chr17:45657451-45657452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2611881	chr17:45657486-45657487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191837269	chr17:45657523-45657524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377279770	chr17:45657563-45657564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538123286	chr17:45657578-45657579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62073988	chr17:45657582-45657583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577846430	chr17:45657612-45657613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182458197	chr17:45657620-45657621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111850566	chr17:45657641-45657642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149646251	chr17:45657701-45657702	Weak transcription Strong transcription	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:133 , 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	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
19	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
23	chr17:45629800-45673400	Weak transcription	K562	blood
24	chr17:45635400-45670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:45637400-45667200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr17:45637400-45669000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:45637400-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:45638000-45667400	Weak transcription	Primary T cells from cord blood	blood
30	chr17:45638000-45667400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:45638200-45667400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:45638800-45669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:45639200-45656400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:45639400-45659200	Weak transcription	Liver	Liver
35	chr17:45639400-45659400	Weak transcription	A549	lung
36	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
37	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
38	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
41	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
42	chr17:45644600-45673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:45644600-45673600	Weak transcription	Hela-S3	cervix
44	chr17:45645000-45673800	Weak transcription	HMEC	breast
45	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:45647800-45660400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:45647800-45660400	Weak transcription	Fetal Intestine Large	intestine
48	chr17:45647800-45660600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr17:45647800-45662800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:45647800-45662800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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