Variant report

Variant	esv1815649
Chromosome Location	chr17:45451894-45473107
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	CEBPB	chr17:45453922-45454159	HepG2	liver:	n/a	chr17:45454038-45454049
2	CEBPB	chr17:45453915-45454146	K562	blood:	n/a	chr17:45454038-45454049
3	CTCF	chr17:45452673-45452731	GM13976	blood:	n/a	n/a
4	CTCF	chr17:45454572-45454639	MCF-7	breast:	n/a	n/a
5	CTCF	chr17:45454666-45454686	GM10248	blood:	n/a	n/a
6	E2F4	chr17:45453392-45453442	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr17:45456700-45456892	MCF10A-Er-Src	breast:	n/a	chr17:45456834-45456851
8	GATA3	chr17:45472581-45472767	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr17:45465228-45465370	SH-SY5Y	brain:	n/a	n/a
10	JUN	chr17:45453645-45454040	HepG2	liver:	n/a	chr17:45453798-45453807 chr17:45453794-45453807
11	JUND	chr17:45453615-45453970	HepG2	liver:	n/a	chr17:45453798-45453807
12	KAP1	chr17:45472097-45472297	K562	blood:	n/a	n/a
13	KAP1	chr17:45451403-45452067	K562	blood:	n/a	n/a
14	MAFF	chr17:45466577-45466741	HepG2	liver:	n/a	chr17:45466659-45466677
15	MAFK	chr17:45466565-45466817	HepG2	liver:	n/a	chr17:45466661-45466676
16	MAFK	chr17:45466540-45466820	HepG2	liver:	n/a	chr17:45466661-45466676
17	MYC	chr17:45464329-45464334	MCF-7	breast:	n/a	n/a
18	MYC	chr17:45464342-45464404	MCF-7	breast:	n/a	n/a
19	NFE2	chr17:45467462-45467571	GM12878	blood:	n/a	n/a
20	POLR2A	chr17:45452873-45452951	ProgFib	skin:	n/a	n/a
21	POLR2A	chr17:45454572-45454695	A549	lung:	n/a	n/a
22	POLR2A	chr17:45465369-45465409	Gliobla	brain:	n/a	n/a
23	POLR2A	chr17:45454650-45454683	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:45452668-45452822	A549	lung:	n/a	n/a
25	POLR2A	chr17:45454566-45454699	MCF-7	breast:	n/a	n/a
26	POLR2A	chr17:45463386-45463468	A549	lung:	n/a	n/a
27	POLR2A	chr17:45455876-45455929	MCF10A-Er-Src	breast:	n/a	n/a
28	SPI1	chr17:45470288-45470589	HL-60	blood:	n/a	n/a
29	TCF7L2	chr17:45472274-45472836	HepG2	liver:	n/a	n/a
30	ZNF384	chr17:45466171-45466448	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45469114..45472029-chr17:45476038..45478353,2	K562	blood:
2	chr17:45463722..45466707-chr17:45470914..45473396,3	K562	blood:
3	chr17:45463722..45466707-chr17:45470914..45473396,3	K562	blood:
4	chr17:45468184..45470293-chr17:45471127..45473354,2	MCF-7	breast:
5	chr17:45450399..45452853-chr17:45453985..45455878,3	K562	blood:
6	chr17:45450230..45451965-chr17:45515633..45517209,2	K562	blood:
7	chr17:45468184..45470293-chr17:45471127..45473354,2	MCF-7	breast:
8	chr17:45445857..45448249-chr17:45449955..45451934,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGB3-1	chr17:45451838-45452004	NONHSAT054302

Variant related genes	Relation type
EFCAB13	TF binding region
ENSG00000178852	chromatin interactions

Extended variants
information (count: 714 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4968318	chr17:45451894-45451895	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368296585	chr17:45451917-45451918	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs190550988	chr17:45451933-45451934	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs77019578	chr17:45451958-45451959	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs182483396	chr17:45451990-45451991	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs377667912	chr17:45451992-45451993	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs141980360	chr17:45452022-45452023	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199652774	chr17:45452030-45452031	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370954438	chr17:45452040-45452041	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375501418	chr17:45452048-45452049	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185596291	chr17:45452076-45452077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572625083	chr17:45452081-45452082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190776540	chr17:45452088-45452089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201836061	chr17:45452091-45452092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543032561	chr17:45452103-45452104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373076606	chr17:45452111-45452112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138481560	chr17:45452128-45452129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562707283	chr17:45452181-45452182	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200794959	chr17:45452228-45452229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200583201	chr17:45452237-45452238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552058256	chr17:45452238-45452239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565572891	chr17:45452244-45452245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74969489	chr17:45452257-45452258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144400453	chr17:45452281-45452282	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536593341	chr17:45452300-45452301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377629904	chr17:45452301-45452302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554788706	chr17:45452303-45452304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377193277	chr17:45452304-45452305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144496511	chr17:45452306-45452307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370066816	chr17:45452307-45452308	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183020306	chr17:45452318-45452319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557673505	chr17:45452335-45452336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577502879	chr17:45452428-45452429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534023870	chr17:45452468-45452469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553660784	chr17:45452563-45452564	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549298621	chr17:45452577-45452578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574095280	chr17:45452601-45452602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542716082	chr17:45452670-45452671	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114010137	chr17:45452693-45452694	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs576553680	chr17:45452718-45452719	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs545410497	chr17:45452753-45452754	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148394949	chr17:45452786-45452787	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs34788135	chr17:45452792-45452793	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545480431	chr17:45452849-45452850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113394376	chr17:45452850-45452851	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115021255	chr17:45452859-45452860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142517409	chr17:45452931-45452932	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62076500	chr17:45452971-45452972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572839485	chr17:45453041-45453042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151321394	chr17:45453065-45453066	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	17142309	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

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
2	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
3	chr17:45412400-45463400	Weak transcription	Gastric	stomach
4	chr17:45413400-45463800	Weak transcription	Ovary	ovary
5	chr17:45423000-45465400	Weak transcription	Adipose Nuclei	Adipose
6	chr17:45435000-45463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:45440600-45457200	Weak transcription	Fetal Intestine Small	intestine
8	chr17:45450400-45461000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:45450800-45470400	Weak transcription	Liver	Liver
10	chr17:45451000-45455400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:45451000-45460000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:45451000-45463000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr17:45451000-45463400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:45451000-45464600	Weak transcription	Primary B cells from cord blood	blood
15	chr17:45451600-45453200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:45453200-45454000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:45454000-45454400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:45454400-45458800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:45455400-45456200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:45456200-45459200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45458800-45459200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:45459200-45460200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:45460000-45460400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr17:45460200-45460400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:45460400-45462800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:45460600-45467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:45460800-45463200	Weak transcription	Lung	lung
28	chr17:45460800-45466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:45461000-45461400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr17:45461000-45461600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:45461400-45463200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:45461400-45466800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr17:45461400-45500400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:45461600-45475200	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:45461600-45500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:45461600-45500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:45461800-45463200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:45462000-45465000	Weak transcription	Primary T cells from cord blood	blood
39	chr17:45462400-45464800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:45462600-45464800	Weak transcription	Fetal Intestine Large	intestine
41	chr17:45462600-45468000	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:45462800-45465600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr17:45463000-45464200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr17:45463000-45466000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:45463200-45463400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:45463200-45463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:45463200-45464000	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr17:45463200-45464000	Strong transcription	Lung	lung
49	chr17:45463200-45464400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:45463200-45464600	ZNF genes & repeats	Fetal Stomach	stomach

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