Variant report

Variant	esv3508601
Chromosome Location	chr17:15450327-15459525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15456307-15456541	MCF-7	breast:	n/a	n/a
2	CTCF	chr17:15456266-15456577	K562	blood:	n/a	n/a
3	CTCF	chr17:15456341-15456496	Medullo	brain:	n/a	n/a
4	CTCF	chr17:15456294-15456615	A549	lung:	n/a	n/a
5	CTCF	chr17:15456440-15456590	GM12873	blood:	n/a	n/a
6	CTCF	chr17:15456302-15456565	GM12878	blood:	n/a	n/a
7	CTCF	chr17:15456348-15456510	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr17:15456335-15456480	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr17:15456314-15456516	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:15456370-15456536	Lung_OC	lung:	n/a	n/a
11	CTCF	chr17:15456240-15456390	HMEC	breast:	n/a	n/a
12	CTCF	chr17:15456305-15456556	LNCaP	prostate:	n/a	n/a
13	CTCF	chr17:15456304-15456494	GM12878	blood:	n/a	n/a
14	CTCF	chr17:15456380-15456530	GM12866	blood:	n/a	n/a
15	CTCF	chr17:15456251-15456613	A549	lung:	n/a	n/a
16	CTCF	chr17:15456280-15456588	MCF-7	breast:	n/a	n/a
17	CTCF	chr17:15456297-15456539	MCF-7	breast:	n/a	n/a
18	CTCF	chr17:15456400-15456550	HVMF	connective:	n/a	n/a
19	CTCF	chr17:15456474-15456475	GM10248	blood:	n/a	n/a
20	CTCF	chr17:15456307-15456537	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr17:15456304-15456551	GM12892	blood:	n/a	n/a
22	CTCF	chr17:15456310-15456544	ProgFib	skin:	n/a	n/a
23	CTCF	chr17:15456332-15456548	GM13977	blood:	n/a	n/a
24	CTCF	chr17:15456332-15456495	GM13976	blood:	n/a	n/a
25	CTCF	chr17:15456360-15456510	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr17:15456308-15456533	K562	blood:	n/a	n/a
27	CTCF	chr17:15456323-15456474	GM12891	blood:	n/a	n/a
28	CTCF	chr17:15456356-15456548	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr17:15456319-15456545	K562	blood:	n/a	n/a
30	CTCF	chr17:15456400-15456550	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr17:15456282-15456554	MCF-7	breast:	n/a	n/a
32	CTCF	chr17:15456311-15456545	GM19239	blood:	n/a	n/a
33	CTCF	chr17:15456347-15456522	GM10266	blood:	n/a	n/a
34	CTCF	chr17:15456310-15456534	GM19240	blood:	n/a	n/a
35	CTCF	chr17:15456280-15456663	A549	lung:	n/a	n/a
36	CTCF	chr17:15456291-15456561	NHEK	skin:	n/a	n/a
37	CTCF	chr17:15456314-15456567	Gliobla	brain:	n/a	n/a
38	CTCF	chr17:15456308-15456538	GM19238	blood:	n/a	n/a
39	CTCF	chr17:15456220-15456370	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr17:15456332-15456551	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr17:15456320-15456470	GM12874	blood:	n/a	n/a
42	CTCF	chr17:15456420-15456570	AG04449	skin:	n/a	n/a
43	CTCF	chr17:15456400-15456550	HepG2	liver:	n/a	n/a
44	CTCF	chr17:15456380-15456530	A549	lung:	n/a	n/a
45	CTCF	chr17:15456380-15456535	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr17:15456316-15456541	A549	lung:	n/a	n/a
47	CTCF	chr17:15456419-15456528	HepG2	liver:	n/a	n/a
48	CTCF	chr17:15456222-15456715	A549	lung:	n/a	n/a
49	CTCF	chr17:15456349-15456471	GM10248	blood:	n/a	n/a
50	CTCF	chr17:15456322-15456517	HepG2	liver:	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: 307 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574959527	chr17:15450329-15450330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543963550	chr17:15450349-15450350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569202604	chr17:15450352-15450353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200288750	chr17:15450362-15450363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202048498	chr17:15450510-15450511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1019147	chr17:15450516-15450517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532808898	chr17:15450524-15450525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552652111	chr17:15450528-15450529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559774756	chr17:15450556-15450557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528620883	chr17:15450584-15450585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548371785	chr17:15450585-15450586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533100666	chr17:15450637-15450638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536073492	chr17:15450652-15450653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148735707	chr17:15450654-15450655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569615222	chr17:15450662-15450663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538541383	chr17:15450738-15450739	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2270136	chr17:15450770-15450771	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571927880	chr17:15450787-15450788	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs185521213	chr17:15450802-15450803	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139506161	chr17:15450830-15450831	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569762480	chr17:15450882-15450883	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574436077	chr17:15451022-15451023	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544034100	chr17:15451044-15451045	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563869954	chr17:15451061-15451062	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs190393173	chr17:15451068-15451069	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577654197	chr17:15451075-15451076	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs546505221	chr17:15451202-15451203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559724754	chr17:15451231-15451232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182029578	chr17:15451272-15451273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528498065	chr17:15451275-15451276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368275742	chr17:15451414-15451415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370808521	chr17:15451480-15451481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185830678	chr17:15451562-15451563	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562050019	chr17:15451563-15451564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2954742	chr17:15451584-15451585	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs181116233	chr17:15451605-15451606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs549608207	chr17:15451615-15451616	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569504217	chr17:15451618-15451619	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532305456	chr17:15451626-15451627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552078067	chr17:15451684-15451685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565933264	chr17:15451692-15451693	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs534333860	chr17:15451726-15451727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554505433	chr17:15451758-15451759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75104655	chr17:15451771-15451772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549547647	chr17:15451823-15451824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566058692	chr17:15451853-15451854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557623976	chr17:15451898-15451899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186464058	chr17:15451949-15451950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374130724	chr17:15451956-15451957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190904962	chr17:15451958-15451959	Weak transcription	n/a	n/a	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:115 , 50 per page) page: 1 2 3

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	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:15421200-15450800	Weak transcription	Fetal Kidney	kidney
13	chr17:15421200-15453000	Weak transcription	Aorta	Aorta
14	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
15	chr17:15422800-15465800	Weak transcription	Fetal Intestine Small	intestine
16	chr17:15423000-15451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:15429400-15450400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:15429800-15450400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr17:15429800-15466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:15429800-15466400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:15431000-15465400	Weak transcription	K562	blood
22	chr17:15433800-15450600	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:15437200-15450400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:15438800-15450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:15439000-15466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:15439600-15456000	Weak transcription	Colon Smooth Muscle	Colon
27	chr17:15439600-15466000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr17:15439800-15466400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr17:15440000-15450800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr17:15440200-15466400	Weak transcription	Left Ventricle	heart
31	chr17:15440600-15451000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:15440800-15450400	Weak transcription	Psoas Muscle	Psoas
33	chr17:15440800-15466000	Weak transcription	NHEK	skin
34	chr17:15441000-15466000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:15442600-15450400	Weak transcription	Spleen	Spleen
36	chr17:15442600-15450600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:15442600-15450600	Weak transcription	Fetal Brain Female	brain
38	chr17:15442600-15465400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:15442600-15466000	Weak transcription	A549	lung
40	chr17:15442600-15466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:15442800-15450400	Weak transcription	Fetal Stomach	stomach
42	chr17:15442800-15462600	Weak transcription	Thymus	Thymus
43	chr17:15442800-15465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:15442800-15466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:15442800-15466400	Weak transcription	Lung	lung
46	chr17:15443800-15450400	Weak transcription	Primary T cells from cord blood	blood
47	chr17:15444000-15451000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:15444200-15450400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr17:15444200-15452200	Weak transcription	GM12878-XiMat	blood
50	chr17:15444200-15452400	Weak transcription	Brain Inferior Temporal Lobe	brain

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