Variant report

Variant	esv3395445
Chromosome Location	chr17:15444877-15459575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15456290-15456545	Fibrobl	skin:	n/a	n/a
2	CTCF	chr17:15456297-15456563	LNCaP	prostate:	n/a	n/a
3	CTCF	chr17:15456320-15456470	GM12874	blood:	n/a	n/a
4	CTCF	chr17:15456341-15456496	Medullo	brain:	n/a	n/a
5	CTCF	chr17:15456323-15456474	GM12891	blood:	n/a	n/a
6	CTCF	chr17:15456259-15456618	K562	blood:	n/a	n/a
7	CTCF	chr17:15456322-15456517	HepG2	liver:	n/a	n/a
8	CTCF	chr17:15456380-15456530	GM12866	blood:	n/a	n/a
9	CTCF	chr17:15456280-15456588	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:15456304-15456494	GM12878	blood:	n/a	n/a
11	CTCF	chr17:15456304-15456551	GM12892	blood:	n/a	n/a
12	CTCF	chr17:15456308-15456538	GM19238	blood:	n/a	n/a
13	CTCF	chr17:15456280-15456663	A549	lung:	n/a	n/a
14	CTCF	chr17:15456347-15456489	GM20000	blood:	n/a	n/a
15	CTCF	chr17:15456400-15456550	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr17:15456314-15456567	Gliobla	brain:	n/a	n/a
17	CTCF	chr17:15456222-15456715	A549	lung:	n/a	n/a
18	CTCF	chr17:15456307-15456541	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:15456380-15456530	A549	lung:	n/a	n/a
20	CTCF	chr17:15456400-15456550	HepG2	liver:	n/a	n/a
21	CTCF	chr17:15456314-15456516	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:15456319-15456545	K562	blood:	n/a	n/a
23	CTCF	chr17:15456360-15456510	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr17:15456332-15456495	GM13976	blood:	n/a	n/a
25	CTCF	chr17:15456251-15456613	A549	lung:	n/a	n/a
26	CTCF	chr17:15456335-15456480	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr17:15456305-15456556	LNCaP	prostate:	n/a	n/a
28	CTCF	chr17:15456347-15456522	GM10266	blood:	n/a	n/a
29	CTCF	chr17:15456266-15456577	K562	blood:	n/a	n/a
30	CTCF	chr17:15456440-15456590	GM12873	blood:	n/a	n/a
31	CTCF	chr17:15456311-15456545	GM19239	blood:	n/a	n/a
32	CTCF	chr17:15456400-15456550	HVMF	connective:	n/a	n/a
33	CTCF	chr17:15456308-15456533	K562	blood:	n/a	n/a
34	CTCF	chr17:15456282-15456554	MCF-7	breast:	n/a	n/a
35	CTCF	chr17:15456310-15456544	ProgFib	skin:	n/a	n/a
36	CTCF	chr17:15456348-15456510	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr17:15456291-15456561	NHEK	skin:	n/a	n/a
38	CTCF	chr17:15456307-15456537	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr17:15456420-15456570	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr17:15456302-15456565	GM12878	blood:	n/a	n/a
41	CTCF	chr17:15456356-15456548	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr17:15456220-15456370	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr17:15456419-15456528	HepG2	liver:	n/a	n/a
44	CTCF	chr17:15456380-15456535	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr17:15456474-15456475	GM10248	blood:	n/a	n/a
46	CTCF	chr17:15456294-15456615	A549	lung:	n/a	n/a
47	CTCF	chr17:15456332-15456551	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr17:15456370-15456536	Lung_OC	lung:	n/a	n/a
49	CTCF	chr17:15456310-15456534	GM19240	blood:	n/a	n/a
50	CTCF	chr17:15456240-15456390	HMEC	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15457303..15459524-chr17:15462785..15464978,2	K562	blood:

No data

Variant related genes	Relation type
TVP23C	TF binding region

Extended variants
information (count: 534 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537178976	chr17:15444932-15444933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556802283	chr17:15444953-15444954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576978667	chr17:15444958-15444959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546429378	chr17:15444985-15444986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149931791	chr17:15445010-15445011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573625468	chr17:15445013-15445014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542147514	chr17:15445019-15445020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562145330	chr17:15445078-15445079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530788250	chr17:15445120-15445121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35790680	chr17:15445138-15445139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568757456	chr17:15445159-15445160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182211617	chr17:15445217-15445218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564435342	chr17:15445221-15445222	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144750125	chr17:15445234-15445235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548172585	chr17:15445245-15445246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551573292	chr17:15445353-15445354	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373665497	chr17:15445434-15445435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565531311	chr17:15445459-15445460	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534637170	chr17:15445503-15445504	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548166760	chr17:15445507-15445508	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568317337	chr17:15445509-15445510	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145947458	chr17:15445541-15445542	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536664179	chr17:15445591-15445592	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140902367	chr17:15445613-15445614	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
25	rs2954740	chr17:15445647-15445648	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186819019	chr17:15445649-15445650	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs539534952	chr17:15445654-15445655	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs375773171	chr17:15445665-15445666	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs533856758	chr17:15445675-15445676	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112525559	chr17:15445678-15445679	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs193244256	chr17:15445686-15445687	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs370320529	chr17:15445718-15445719	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542535517	chr17:15445770-15445771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372985617	chr17:15445772-15445773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562263973	chr17:15445783-15445784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111290705	chr17:15445802-15445803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553503273	chr17:15445814-15445815	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs185692751	chr17:15445815-15445816	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs190157644	chr17:15445822-15445823	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200074219	chr17:15445833-15445834	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs564139338	chr17:15445846-15445847	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs570320096	chr17:15445863-15445864	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192949072	chr17:15445901-15445902	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs533292997	chr17:15445915-15445916	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs150269286	chr17:15445921-15445922	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184038904	chr17:15445931-15445932	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs1988028	chr17:15445939-15445940	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs528297473	chr17:15445940-15445941	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548331251	chr17:15445979-15445980	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs188722932	chr17:15445991-15445992	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383400-15455000	Weak transcription	Gastric	stomach
2	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:15406800-15450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:15417600-15466400	Weak transcription	Ovary	ovary
7	chr17:15418600-15450600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:15418800-15450600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:15419800-15448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:15420000-15448400	Weak transcription	Placenta	Placenta
11	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:15420200-15448600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:15420800-15448200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:15420800-15448400	Weak transcription	Fetal Muscle Leg	muscle
17	chr17:15420800-15448400	Weak transcription	HSMM	muscle
18	chr17:15420800-15450200	Weak transcription	Brain Germinal Matrix	brain
19	chr17:15421200-15450800	Weak transcription	Fetal Kidney	kidney
20	chr17:15421200-15453000	Weak transcription	Aorta	Aorta
21	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
22	chr17:15422400-15447000	Weak transcription	HepG2	liver
23	chr17:15422400-15448400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:15422800-15465800	Weak transcription	Fetal Intestine Small	intestine
25	chr17:15423000-15448400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:15423000-15451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:15426200-15446600	Weak transcription	HUVEC	blood vessel
28	chr17:15429400-15448400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:15429400-15448400	Weak transcription	Fetal Lung	lung
30	chr17:15429400-15450400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:15429800-15448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:15429800-15450400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:15429800-15466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:15429800-15466400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:15430200-15448400	Weak transcription	Fetal Intestine Large	intestine
36	chr17:15431000-15465400	Weak transcription	K562	blood
37	chr17:15433000-15449400	Weak transcription	HMEC	breast
38	chr17:15433800-15450600	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:15434600-15448600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr17:15435600-15449200	Weak transcription	Fetal Thymus	thymus
41	chr17:15436200-15448400	Weak transcription	HSMMtube	muscle
42	chr17:15437000-15448400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr17:15437200-15450400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:15438400-15448200	Weak transcription	Liver	Liver
45	chr17:15438800-15450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:15439000-15466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:15439600-15450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:15439600-15456000	Weak transcription	Colon Smooth Muscle	Colon
49	chr17:15439600-15466000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr17:15439800-15466400	Weak transcription	Primary B cells from peripheral blood	blood

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