Variant report

Variant	nsv585777
Chromosome Location	chr20:26233467-26300774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1052)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1052 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:26300230-26300430	K562	blood:	n/a	n/a
2	ATF1	chr20:26269527-26269727	K562	blood:	n/a	n/a
3	ATF1	chr20:26293066-26293834	K562	blood:	n/a	n/a
4	ATF1	chr20:26259878-26260247	K562	blood:	n/a	n/a
5	BACH1	chr20:26268242-26268311	K562	blood:	n/a	n/a
6	BACH1	chr20:26292130-26292159	K562	blood:	n/a	n/a
7	BACH1	chr20:26277375-26277379	K562	blood:	n/a	n/a
8	BACH1	chr20:26266555-26266850	K562	blood:	n/a	n/a
9	BATF	chr20:26300048-26300304	GM12878	blood:	n/a	n/a
10	BATF	chr20:26289377-26289809	GM12878	blood:	n/a	n/a
11	BATF	chr20:26280163-26280489	GM12878	blood:	n/a	n/a
12	BATF	chr20:26264552-26264856	GM12878	blood:	n/a	n/a
13	BATF	chr20:26274501-26274807	GM12878	blood:	n/a	n/a
14	BATF	chr20:26265586-26265738	GM12878	blood:	n/a	n/a
15	BATF	chr20:26265492-26265865	GM12878	blood:	n/a	n/a
16	BATF	chr20:26279518-26279803	GM12878	blood:	n/a	n/a
17	BATF	chr20:26294664-26294948	GM12878	blood:	n/a	n/a
18	BATF	chr20:26275040-26275408	GM12878	blood:	n/a	n/a
19	BATF	chr20:26279090-26279314	GM12878	blood:	n/a	n/a
20	BATF	chr20:26292348-26292680	GM12878	blood:	n/a	n/a
21	BATF	chr20:26274094-26274336	GM12878	blood:	n/a	n/a
22	BATF	chr20:26291260-26291544	GM12878	blood:	n/a	n/a
23	BATF	chr20:26264565-26265102	GM12878	blood:	n/a	n/a
24	BATF	chr20:26280614-26280997	GM12878	blood:	n/a	n/a
25	BATF	chr20:26280197-26280414	GM12878	blood:	n/a	n/a
26	BATF	chr20:26259933-26260309	GM12878	blood:	n/a	n/a
27	BATF	chr20:26276995-26277268	GM12878	blood:	n/a	n/a
28	BCL11A	chr20:26300161-26300333	GM12878	blood:	n/a	n/a
29	BCL11A	chr20:26294672-26295278	GM12878	blood:	n/a	n/a
30	BCL11A	chr20:26276996-26277177	GM12878	blood:	n/a	n/a
31	BCL11A	chr20:26279036-26279340	GM12878	blood:	n/a	n/a
32	BCL11A	chr20:26262074-26262606	GM12878	blood:	n/a	n/a
33	BCL11A	chr20:26280150-26280489	GM12878	blood:	n/a	n/a
34	BCL11A	chr20:26280645-26281028	GM12878	blood:	n/a	n/a
35	BCL11A	chr20:26264587-26265146	GM12878	blood:	n/a	n/a
36	BCL11A	chr20:26292370-26292600	GM12878	blood:	n/a	n/a
37	BCL11A	chr20:26265491-26265733	GM12878	blood:	n/a	n/a
38	BCL11A	chr20:26289408-26289617	GM12878	blood:	n/a	n/a
39	BCL11A	chr20:26274528-26274678	GM12878	blood:	n/a	n/a
40	BCL11A	chr20:26264648-26264913	GM12878	blood:	n/a	n/a
41	BCL11A	chr20:26259908-26260344	GM12878	blood:	n/a	n/a
42	BCL11A	chr20:26265591-26265733	H1-hESC	embryonic stem cell:	n/a	n/a
43	BCL11A	chr20:26280211-26280463	GM12878	blood:	n/a	n/a
44	BCL11A	chr20:26292301-26292682	GM12878	blood:	n/a	n/a
45	BCL11A	chr20:26291268-26291853	GM12878	blood:	n/a	n/a
46	BCL11A	chr20:26265451-26265811	GM12878	blood:	n/a	n/a
47	BCL11A	chr20:26279083-26279378	GM12878	blood:	n/a	n/a
48	BCL11A	chr20:26279516-26279796	GM12878	blood:	n/a	n/a
49	BCL11A	chr20:26289292-26289725	GM12878	blood:	n/a	n/a
50	BHLHE40	chr20:26289351-26289712	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
MIR663A	TF binding region

Extended variants
information (count: 5975 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:5975 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs845804	chr20:26233467-26233468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566903245	chr20:26233490-26233491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539136932	chr20:26233501-26233502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371677852	chr20:26233511-26233512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368166870	chr20:26233512-26233513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532849272	chr20:26233534-26233535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77216826	chr20:26233540-26233541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75375625	chr20:26233554-26233555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186140431	chr20:26233580-26233581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78501709	chr20:26233585-26233586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368255192	chr20:26233608-26233609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200816919	chr20:26233613-26233614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565331057	chr20:26233615-26233616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201338617	chr20:26233623-26233624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201638152	chr20:26233653-26233654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74682578	chr20:26233669-26233670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115467776	chr20:26233681-26233682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569280242	chr20:26233717-26233718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191698562	chr20:26233725-26233726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116315317	chr20:26233730-26233731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200738834	chr20:26233740-26233741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201696001	chr20:26233744-26233745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568231362	chr20:26233755-26233756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199812881	chr20:26233771-26233772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553936710	chr20:26233790-26233791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78892406	chr20:26233799-26233800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576924459	chr20:26233813-26233814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369460550	chr20:26233844-26233845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78123047	chr20:26233861-26233862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76776269	chr20:26233862-26233863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77854149	chr20:26233871-26233872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76103583	chr20:26233908-26233909	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs80124254	chr20:26233920-26233921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs149857144	chr20:26233922-26233923	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs576137941	chr20:26233926-26233927	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs541860079	chr20:26233982-26233983	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74351799	chr20:26233995-26233996	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs73904537	chr20:26233996-26233997	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs561636553	chr20:26234019-26234020	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs527384435	chr20:26234026-26234027	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs76397150	chr20:26234027-26234028	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs74656605	chr20:26234034-26234035	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs80285348	chr20:26234048-26234049	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs6107157	chr20:26234055-26234056	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs67239724	chr20:26234081-26234082	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533084385	chr20:26234126-26234127	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs78169616	chr20:26234136-26234137	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201342523	chr20:26234137-26234138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs76507662	chr20:26234153-26234154	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79637209	chr20:26234163-26234164	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26232400-26236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:26233000-26233800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr20:26233200-26234200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr20:26233400-26233800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr20:26233400-26233800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr20:26233600-26234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr20:26233600-26234000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr20:26236000-26236400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:26241600-26242000	Enhancers	Dnd41	blood
10	chr20:26253000-26253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:26253200-26257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:26256600-26257600	Active TSS	Spleen	Spleen
13	chr20:26257000-26257200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:26257000-26257400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:26257000-26258200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:26257200-26257400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
17	chr20:26257200-26257600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr20:26257200-26257800	Active TSS	Osteobl	bone
19	chr20:26257200-26258000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:26257200-26258200	ZNF genes & repeats	Fetal Stomach	stomach
21	chr20:26257400-26257600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr20:26257400-26257800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:26257400-26257800	Active TSS	Fetal Brain Female	brain
26	chr20:26257400-26257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr20:26257400-26258000	Active TSS	Brain Anterior Caudate	brain
28	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:26257800-26258000	Enhancers	Fetal Heart	heart
30	chr20:26257800-26258200	Enhancers	Fetal Brain Male	brain
31	chr20:26257800-26259000	Weak transcription	Osteobl	bone
32	chr20:26258000-26259200	Weak transcription	Fetal Heart	heart
33	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr20:26258600-26258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr20:26258600-26258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr20:26258800-26259200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr20:26259200-26259600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr20:26259200-26260200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:26259200-26260400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr20:26259200-26260400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
42	chr20:26259200-26260400	ZNF genes & repeats	Fetal Heart	heart
43	chr20:26259200-26260400	Active TSS	Psoas Muscle	Psoas
44	chr20:26259200-26260600	ZNF genes & repeats	Dnd41	blood
45	chr20:26259200-26262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr20:26259200-26262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr20:26259400-26262600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr20:26259600-26259800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr20:26259600-26260400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr20:26259600-26260400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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