Variant report

Variant	esv3353507
Chromosome Location	chr17:45658453-45662251
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	chr17:45659827-45660279	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:45658872-45658899	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:45659459-45659585	ProgFib	skin:	n/a	n/a
4	POLR2A	chr17:45660151-45660152	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:45660501-45660533	A549	lung:	n/a	n/a
6	POLR2A	chr17:45660642-45660727	A549	lung:	n/a	n/a
7	POLR2A	chr17:45658632-45658833	MCF-7	breast:	n/a	n/a
8	POLR2A	chr17:45658391-45658599	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:45661668-45661793	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566974908	chr17:45658554-45658555	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529366694	chr17:45658603-45658604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549374679	chr17:45658640-45658641	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113436289	chr17:45658655-45658656	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569130267	chr17:45658674-45658675	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386797443	chr17:45658690-45658691	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538218867	chr17:45658740-45658741	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2661171	chr17:45658769-45658770	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564931231	chr17:45658779-45658780	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374311426	chr17:45658862-45658863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187978280	chr17:45658901-45658902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149063695	chr17:45658911-45658912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374032444	chr17:45658943-45658944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534167223	chr17:45658955-45658956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112655397	chr17:45659020-45659021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553898050	chr17:45659041-45659042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140523151	chr17:45659049-45659050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532876811	chr17:45659050-45659051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547971731	chr17:45659053-45659054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572611745	chr17:45659070-45659071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377273932	chr17:45659097-45659098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112831384	chr17:45659150-45659151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11656056	chr17:45659161-45659162	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs565655975	chr17:45659187-45659188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4060747	chr17:45659225-45659226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533337173	chr17:45659250-45659251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575158496	chr17:45659251-45659252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4060748	chr17:45659282-45659283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139835956	chr17:45659303-45659304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529776639	chr17:45659310-45659311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141089703	chr17:45659313-45659314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564413620	chr17:45659358-45659359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113543967	chr17:45659359-45659360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4060749	chr17:45659377-45659378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4060750	chr17:45659384-45659385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2610308	chr17:45659439-45659440	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2644357	chr17:45659444-45659445	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548409984	chr17:45659481-45659482	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2260463	chr17:45659503-45659504	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs533216611	chr17:45659603-45659604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12162121	chr17:45659663-45659664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2644356	chr17:45659672-45659673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540438422	chr17:45659722-45659723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376251717	chr17:45659749-45659750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372579960	chr17:45659783-45659784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200997600	chr17:45659784-45659785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138906160	chr17:45659788-45659789	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193069702	chr17:45659807-45659808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529411891	chr17:45659858-45659859	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs549241071	chr17:45659901-45659902	Weak transcription Strong transcription	TF binding region	1 gene(s)	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:136 , 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	chr17:45639400-45659200	Weak transcription	Liver	Liver
34	chr17:45639400-45659400	Weak transcription	A549	lung
35	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
36	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
37	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
40	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
41	chr17:45644600-45673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:45644600-45673600	Weak transcription	Hela-S3	cervix
43	chr17:45645000-45673800	Weak transcription	HMEC	breast
44	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:45647800-45660400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:45647800-45660400	Weak transcription	Fetal Intestine Large	intestine
47	chr17:45647800-45660600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr17:45647800-45662800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:45647800-45662800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:45647800-45663000	Weak transcription	Thymus	Thymus

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