Variant report

Variant	nsv1056668
Chromosome Location	chr20:26220124-26278304
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	ATF1	chr20:26269527-26269727	K562	blood:	n/a	n/a
2	ATF1	chr20:26259878-26260247	K562	blood:	n/a	n/a
3	BACH1	chr20:26268242-26268311	K562	blood:	n/a	n/a
4	BACH1	chr20:26266555-26266850	K562	blood:	n/a	n/a
5	BACH1	chr20:26277375-26277379	K562	blood:	n/a	n/a
6	BATF	chr20:26264565-26265102	GM12878	blood:	n/a	n/a
7	BATF	chr20:26259933-26260309	GM12878	blood:	n/a	n/a
8	BATF	chr20:26265586-26265738	GM12878	blood:	n/a	n/a
9	BATF	chr20:26265492-26265865	GM12878	blood:	n/a	n/a
10	BATF	chr20:26264552-26264856	GM12878	blood:	n/a	n/a
11	BATF	chr20:26274094-26274336	GM12878	blood:	n/a	n/a
12	BATF	chr20:26274501-26274807	GM12878	blood:	n/a	n/a
13	BATF	chr20:26275040-26275408	GM12878	blood:	n/a	n/a
14	BATF	chr20:26276995-26277268	GM12878	blood:	n/a	n/a
15	BCL11A	chr20:26265591-26265733	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr20:26262074-26262606	GM12878	blood:	n/a	n/a
17	BCL11A	chr20:26259908-26260344	GM12878	blood:	n/a	n/a
18	BCL11A	chr20:26274528-26274678	GM12878	blood:	n/a	n/a
19	BCL11A	chr20:26264587-26265146	GM12878	blood:	n/a	n/a
20	BCL11A	chr20:26265491-26265733	GM12878	blood:	n/a	n/a
21	BCL11A	chr20:26264648-26264913	GM12878	blood:	n/a	n/a
22	BCL11A	chr20:26265451-26265811	GM12878	blood:	n/a	n/a
23	BCL11A	chr20:26276996-26277177	GM12878	blood:	n/a	n/a
24	BHLHE40	chr20:26265477-26265854	HepG2	liver:	n/a	n/a
25	BHLHE40	chr20:26267206-26267233	K562	blood:	n/a	n/a
26	BHLHE40	chr20:26266592-26266620	GM12878	blood:	n/a	n/a
27	BHLHE40	chr20:26277374-26277401	K562	blood:	n/a	n/a
28	BHLHE40	chr20:26264590-26264853	HepG2	liver:	n/a	n/a
29	BHLHE40	chr20:26271724-26271976	HepG2	liver:	n/a	n/a
30	BHLHE40	chr20:26274473-26274754	HepG2	liver:	n/a	n/a
31	BHLHE40	chr20:26266175-26266575	HepG2	liver:	n/a	n/a
32	BRCA1	chr20:26264216-26264242	HepG2	liver:	n/a	n/a
33	BRCA1	chr20:26259444-26259641	GM12878	blood:	n/a	n/a
34	CEBPB	chr20:26230905-26231255	A549	lung:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
35	CEBPB	chr20:26239007-26239021	A549	lung:	n/a	n/a
36	CEBPB	chr20:26230986-26231176	K562	blood:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
37	CEBPB	chr20:26275782-26276082	MCF-7	breast:	n/a	n/a
38	CEBPB	chr20:26275780-26276126	MCF-7	breast:	n/a	n/a
39	CEBPB	chr20:26230967-26231246	IMR90	lung:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
40	CEBPB	chr20:26275816-26276429	A549	lung:	n/a	n/a
41	CEBPB	chr20:26230886-26231251	HepG2	liver:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
42	CEBPB	chr20:26247584-26247739	A549	lung:	n/a	chr20:26247689-26247702 chr20:26247689-26247702 chr20:26247689-26247700 chr20:26247690-26247701 chr20:26247689-26247700 chr20:26247603-26247620
43	CEBPB	chr20:26231065-26231101	H1-hESC	embryonic stem cell:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
44	CEBPB	chr20:26230907-26231197	HepG2	liver:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
45	CEBPB	chr20:26247536-26247734	HepG2	liver:	n/a	chr20:26247689-26247702 chr20:26247689-26247702 chr20:26247689-26247700 chr20:26247690-26247701 chr20:26247689-26247700 chr20:26247603-26247620
46	CEBPB	chr20:26259955-26260249	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPD	chr20:26264581-26265029	K562	blood:	n/a	n/a
48	CHD1	chr20:26259990-26260183	GM12878	blood:	n/a	n/a
49	CHD1	chr20:26260049-26260174	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr20:26257583-26257707	ProgFib	skin:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-6	chr20:26231899-26232102	ENSG00000227195.4
2	lnc-FAM182B-6	chr20:26231899-26232162	ENSG00000227195.4
3	lnc-FAM182B-6	chr20:26231899-26232141	ENSG00000227195.4

Variant related genes	Relation type
MIR663A	TF binding region

Extended variants
information (count: 3603 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:3603 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397941338	chr20:26231401-26231402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182264949	chr20:26231419-26231420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567204059	chr20:26231431-26231432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529901352	chr20:26231437-26231438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188078986	chr20:26231470-26231471	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566084407	chr20:26231526-26231527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374936801	chr20:26231528-26231529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562519068	chr20:26231537-26231538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2889438	chr20:26231567-26231568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs552239686	chr20:26231576-26231577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373088071	chr20:26231577-26231578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192536220	chr20:26231612-26231613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537630947	chr20:26231621-26231622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2376700	chr20:26231634-26231635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs117264808	chr20:26231637-26231638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73109868	chr20:26231647-26231648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574401921	chr20:26231651-26231652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141378600	chr20:26231653-26231654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs367772962	chr20:26231654-26231655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2376699	chr20:26231661-26231662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375778875	chr20:26231666-26231667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs2889437	chr20:26231681-26231682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142444711	chr20:26231705-26231706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs57014388	chr20:26231708-26231709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566462684	chr20:26231732-26231733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534109147	chr20:26231737-26231738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7347584	chr20:26231772-26231773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377399016	chr20:26231821-26231822	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553409779	chr20:26231823-26231824	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78531459	chr20:26231826-26231827	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75483136	chr20:26231827-26231828	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548085331	chr20:26231830-26231831	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs6037344	chr20:26231837-26231838	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs573152445	chr20:26231847-26231848	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79373842	chr20:26231848-26231849	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs373880734	chr20:26231873-26231874	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545214891	chr20:26231898-26231899	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566329394	chr20:26231899-26231900	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs113534864	chr20:26231901-26231902	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs187293811	chr20:26231912-26231913	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs6115573	chr20:26231938-26231939	Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190058018	chr20:26231951-26231952	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs544407856	chr20:26231955-26231956	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs560718391	chr20:26231982-26231983	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs193058039	chr20:26232003-26232004	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs147434331	chr20:26232049-26232050	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs372532006	chr20:26232063-26232064	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs559756497	chr20:26232064-26232065	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs532132129	chr20:26232077-26232078	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs552015864	chr20:26232116-26232117	Enhancers	TF binding region lncRNA	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:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26231400-26232000	Active TSS	K562	blood
2	chr20:26231800-26232400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:26232400-26236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:26233000-26233800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr20:26233200-26234200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr20:26233400-26233800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr20:26233400-26233800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr20:26233600-26234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr20:26233600-26234000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr20:26236000-26236400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:26241600-26242000	Enhancers	Dnd41	blood
12	chr20:26253000-26253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:26253200-26257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:26256600-26257600	Active TSS	Spleen	Spleen
15	chr20:26257000-26257200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:26257000-26257400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:26257000-26258200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:26257200-26257400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr20:26257200-26257600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr20:26257200-26257800	Active TSS	Osteobl	bone
21	chr20:26257200-26258000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:26257200-26258200	ZNF genes & repeats	Fetal Stomach	stomach
23	chr20:26257400-26257600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr20:26257400-26257800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:26257400-26257800	Active TSS	Fetal Brain Female	brain
28	chr20:26257400-26257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr20:26257400-26258000	Active TSS	Brain Anterior Caudate	brain
30	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:26257800-26258000	Enhancers	Fetal Heart	heart
32	chr20:26257800-26258200	Enhancers	Fetal Brain Male	brain
33	chr20:26257800-26259000	Weak transcription	Osteobl	bone
34	chr20:26258000-26259200	Weak transcription	Fetal Heart	heart
35	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr20:26258600-26258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr20:26258600-26258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr20:26258800-26259200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr20:26259200-26259600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr20:26259200-26260200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr20:26259200-26260400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr20:26259200-26260400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:26259200-26260400	ZNF genes & repeats	Fetal Heart	heart
45	chr20:26259200-26260400	Active TSS	Psoas Muscle	Psoas
46	chr20:26259200-26260600	ZNF genes & repeats	Dnd41	blood
47	chr20:26259200-26262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr20:26259200-26262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr20:26259400-26262600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr20:26259600-26259800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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