Variant report

Variant	nsv965867
Chromosome Location	chr20:26191230-26207635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:171)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:171 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:26202019-26202231	K562	blood:	n/a	n/a
2	ATF1	chr20:26204024-26204365	K562	blood:	n/a	n/a
3	ATF1	chr20:26202933-26202936	K562	blood:	n/a	n/a
4	ATF1	chr20:26201702-26201703	K562	blood:	n/a	n/a
5	ATF1	chr20:26206579-26206689	K562	blood:	n/a	n/a
6	ATF1	chr20:26200807-26200973	K562	blood:	n/a	n/a
7	ATF1	chr20:26207076-26207177	K562	blood:	n/a	n/a
8	BACH1	chr20:26203731-26203928	K562	blood:	n/a	n/a
9	BRCA1	chr20:26204000-26204108	GM12878	blood:	n/a	n/a
10	CEBPB	chr20:26206815-26207082	HepG2	liver:	n/a	chr20:26206923-26206934 chr20:26206923-26206932
11	CEBPB	chr20:26193151-26193176	HepG2	liver:	n/a	n/a
12	CEBPZ	chr20:26203556-26204052	HepG2	liver:	n/a	n/a
13	CTCF	chr20:26204600-26204750	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr20:26201220-26201370	GM12867	blood:	n/a	n/a
15	CTCF	chr20:26201740-26201890	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr20:26200319-26200424	ProgFib	skin:	n/a	n/a
17	CTCF	chr20:26205900-26206050	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr20:26204040-26204190	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr20:26200342-26200411	MCF-7	breast:	n/a	n/a
20	CTCF	chr20:26204020-26204170	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr20:26202080-26202230	HAc	cerebellar:	n/a	n/a
22	CTCF	chr20:26201640-26201790	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr20:26199980-26200130	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr20:26203620-26203770	NB4	blood:	n/a	n/a
25	CTCF	chr20:26204020-26204170	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr20:26201200-26201350	RPTEC	kidney:	n/a	n/a
27	CTCF	chr20:26200351-26200425	A549	lung:	n/a	n/a
28	CTCF	chr20:26201420-26201570	AG10803	skin:	n/a	n/a
29	CTCF	chr20:26201280-26201430	HCM	heart:	n/a	n/a
30	CTCF	chr20:26204280-26204430	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr20:26203500-26203650	Caco-2	colon:	n/a	n/a
32	CTCF	chr20:26204020-26204170	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr20:26206460-26206610	AG10803	skin:	n/a	n/a
34	CTCF	chr20:26198171-26198256	A549	lung:	n/a	n/a
35	CTCF	chr20:26203480-26203630	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr20:26203420-26203570	AG10803	skin:	n/a	n/a
37	CTCF	chr20:26204000-26204150	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr20:26203480-26203630	BE2_C	brain:	n/a	n/a
39	CTCF	chr20:26200220-26200370	AG09319	gingival:	n/a	n/a
40	CTCF	chr20:26199760-26199910	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr20:26201800-26201950	HAc	cerebellar:	n/a	n/a
42	CTCF	chr20:26201820-26201970	K562	blood:	n/a	n/a
43	CTCF	chr20:26200780-26200930	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr20:26204600-26204750	RPTEC	kidney:	n/a	n/a
45	CTCF	chr20:26201220-26201370	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr20:26200240-26200390	Caco-2	colon:	n/a	n/a
47	CTCF	chr20:26203540-26203690	NHLF	lung:	n/a	n/a
48	CTCF	chr20:26204000-26204150	AG10803	skin:	n/a	n/a
49	CTCF	chr20:26201420-26201570	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr20:26202000-26202150	GM12867	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:26192541-26192591	PrEC	prostate:	n/a
2	chr20:26192541-26192591	HPAEpiC	pulmonary alveolar:	n/a
3	chr20:26192541-26192591	SK-N-SH_RA	brain:	n/a
4	chr20:26192541-26192591	AG09319	gingival:	n/a
5	chr20:26192541-26192591	NHBE	bronchial:	n/a
6	chr20:26192541-26192591	SAEC	small airway:	n/a
7	chr20:26192541-26192591	Hepatocyte	liver:	n/a
8	chr20:26192541-26192591	HCPEpiC	choroid plexus:	n/a
9	chr20:26192541-26192591	A549	lung:	n/a
10	chr20:26192541-26192591	HMEC	breast:	n/a
11	chr20:26192541-26192591	NT2-D1	testis:	n/a
12	chr20:26192541-26192591	Jurkat	blood:	n/a
13	chr20:26192541-26192591	GM12878	blood:	n/a
14	chr20:26192541-26192591	AG09309	skin:	n/a
15	chr20:26192541-26192591	BE2_C	brain:	n/a
16	chr20:26192541-26192591	GM12891	blood:	n/a
17	chr20:26192541-26192591	HepG2	liver:	n/a
18	chr20:26192541-26192591	HL-60	blood:	n/a
19	chr20:26192541-26192591	HIPEpiC	eye:	n/a
20	chr20:26192541-26192591	NB4	blood:	n/a
21	chr20:26192541-26192591	LNCaP	prostate:	n/a
22	chr20:26192541-26192591	HRPEpiC	eye:	n/a
23	chr20:26192541-26192591	GM19239	blood:	n/a
24	chr20:26192541-26192591	NH-A	brain:	n/a
25	chr20:26192541-26192591	HEK293	kidney:	embryo
26	chr20:26192541-26192591	IMR90	lung:	fetal
27	chr20:26192541-26192591	MCF10A-Er-Src	breast:	n/a
28	chr20:26192541-26192591	PFSK-1	brain:	n/a
29	chr20:26192541-26192591	PANC-1	pancreas:	n/a
30	chr20:26192541-26192591	SK-N-MC	brain:	n/a
31	chr20:26192541-26192591	AG04449	skin:	fetal
32	chr20:26192541-26192591	T-47D	breast:	n/a
33	chr20:26192541-26192591	CMK	blood:	n/a
34	chr20:26192541-26192591	MCF-7	breast:	n/a
35	chr20:26192541-26192591	HCT-116	colon:	n/a
36	chr20:26192541-26192591	U87	brain:	n/a
37	chr20:26192541-26192591	NHDF-neo	bronchial:	n/a
38	chr20:26192541-26192591	GM06990	blood:	n/a
39	chr20:26192541-26192591	RPTEC	kidney:	n/a
40	chr20:26192541-26192591	K562	blood:	n/a
41	chr20:26192541-26192591	AG04450	lung:	fetal
42	chr20:26192541-26192591	H1-hESC	embryonic stem cell:	embryo
43	chr20:26192541-26192591	HRE	kidney:	n/a
44	chr20:26192541-26192591	GM12892	blood:	n/a
45	chr20:26192541-26192591	AoSMC	blood vessel:	n/a
46	chr20:26192541-26192591	HCM	heart:	n/a
47	chr20:26192541-26192591	HRCEpiC	kidney:	n/a
48	chr20:26192541-26192591	ProgFib	skin:	n/a
49	chr20:26192541-26192591	SKMC	muscle:	n/a
50	chr20:26192541-26192591	BJ	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:26206073..26206971-chr3:75991464..75992265,2	MCF-7	breast:
2	chr20:26187273..26191752-chr21:9823988..9828758,49	MCF-7	breast:
3	chr20:26199924..26201625-chr3:75995563..75997738,2	MCF-7	breast:
4	chr16:33961325..33966193-chr20:26187372..26191793,13	K562	blood:
5	chr20:26187350..26191964-chr21:9824053..9828992,54	K562	blood:
6	chr20:26192921..26195094-chr20:26197740..26199404,2	K562	blood:
7	chr16:33959793..33967555-chr20:26187372..26191632,15	K562	blood:
8	chr17:73256462..73259302-chr20:26189013..26191624,2	MCF-7	breast:
9	chr20:26187251..26191978-chr21:9823998..9829001,56	K562	blood:
10	chr20:26201915..26204776-chr3:75992954..75996738,5	MCF-7	breast:
11	chr20:26201563..26203476-chr3:75993448..75995749,2	K562	blood:
12	chr2:133011277..133016757-chr20:26187363..26191986,20	K562	blood:
13	chr12:127649002..127652005-chr20:26189997..26191614,3	K562	blood:
14	chr2:133011277..133017359-chr20:26187383..26191986,21	K562	blood:
15	chr20:26192921..26195094-chr20:26197740..26199404,2	K562	blood:
16	chr20:26187252..26191975-chr21:9823984..9828995,56	MCF-7	breast:

No data

Variant related genes	Relation type
MIR663A	TF binding region
MIR663A	CpG island
ENSG00000125445	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000239776	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000125447	chromatin interactions
ENSG00000221288	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000163046	chromatin interactions

Extended variants
information (count: 972 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:972 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373408333	chr20:26191260-26191261	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs141342635	chr20:26191293-26191294	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs567743124	chr20:26191311-26191312	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs530280193	chr20:26191316-26191317	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs544678091	chr20:26191341-26191342	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs34092416	chr20:26191350-26191351	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs148321486	chr20:26191368-26191369	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs567106741	chr20:26191375-26191376	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs539043459	chr20:26191443-26191444	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs552595626	chr20:26191472-26191473	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs2697500	chr20:26191543-26191544	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs202089927	chr20:26191594-26191595	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs113602082	chr20:26191595-26191596	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs139613388	chr20:26191596-26191597	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs546979540	chr20:26191614-26191615	Weak transcription Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs115351427	chr20:26191639-26191640	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs139236638	chr20:26191681-26191682	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs574559670	chr20:26191690-26191691	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs376965767	chr20:26191784-26191785	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs533944320	chr20:26191812-26191813	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs143840586	chr20:26191826-26191827	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200366604	chr20:26191830-26191831	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs113409377	chr20:26191907-26191908	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs545440356	chr20:26191922-26191923	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs149130027	chr20:26191924-26191925	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs370608770	chr20:26191925-26191926	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs562123141	chr20:26191934-26191935	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs35771661	chr20:26191938-26191939	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs575765837	chr20:26191945-26191946	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs541576948	chr20:26191946-26191947	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs561793795	chr20:26191963-26191964	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs572434854	chr20:26191977-26191978	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs530233807	chr20:26191992-26191993	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187415985	chr20:26192005-26192006	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560662456	chr20:26192031-26192032	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191946822	chr20:26192044-26192045	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559550160	chr20:26192054-26192055	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552629440	chr20:26192078-26192079	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1830347	chr20:26192095-26192096	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144811278	chr20:26192113-26192114	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374150080	chr20:26192166-26192167	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545970142	chr20:26192167-26192168	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560945813	chr20:26192182-26192183	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533790929	chr20:26192207-26192208	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553932414	chr20:26192226-26192227	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs376625890	chr20:26192232-26192233	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs145831513	chr20:26192280-26192281	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs35420781	chr20:26192281-26192282	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs199622174	chr20:26192288-26192289	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs34232030	chr20:26192294-26192295	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26190400-26192400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr20:26190400-26196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr20:26190400-26196200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr20:26190400-26196800	Weak transcription	HSMM	muscle
5	chr20:26190600-26194000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr20:26194000-26194400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr20:26196000-26197600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:26196200-26197400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr20:26196800-26197200	Enhancers	HSMM	muscle
10	chr20:26196800-26197200	Enhancers	Osteobl	bone
11	chr20:26197000-26197400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:26197200-26198800	Weak transcription	Osteobl	bone
13	chr20:26197400-26198800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr20:26197400-26199200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:26197600-26199200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:26198800-26200000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr20:26199200-26199400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:26199200-26199400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:26199200-26199400	Enhancers	Osteobl	bone
20	chr20:26199800-26204600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr20:26200200-26214200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr20:26200400-26202200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:26200800-26204800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:26201600-26202400	ZNF genes & repeats	Fetal Lung	lung
25	chr20:26201600-26202400	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr20:26201800-26202400	ZNF genes & repeats	Fetal Brain Male	brain
27	chr20:26201800-26213400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr20:26202000-26202200	Flanking Bivalent TSS/Enh	Aorta	Aorta
29	chr20:26202200-26202400	Active TSS	Aorta	Aorta
30	chr20:26202400-26203400	Weak transcription	Aorta	Aorta
31	chr20:26203400-26203600	Flanking Active TSS	Aorta	Aorta
32	chr20:26203400-26203600	ZNF genes & repeats	Fetal Brain Male	brain
33	chr20:26203600-26203800	Active TSS	Aorta	Aorta
34	chr20:26203800-26207800	Weak transcription	Aorta	Aorta
35	chr20:26204000-26204200	Bivalent/Poised TSS	Right Atrium	heart
36	chr20:26205000-26205200	Bivalent/Poised TSS	Pancreas	Pancrea
37	chr20:26207600-26208600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:26207600-26209400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr20:26207600-26214200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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