Variant report

Variant	nsv1062036
Chromosome Location	chr20:26210440-26305479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1410)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1410 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

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	chr20:26212000-26212002	K562	blood:	n/a	n/a
3	ATF1	chr20:26210425-26210440	K562	blood:	n/a	n/a
4	ATF1	chr20:26259878-26260247	K562	blood:	n/a	n/a
5	ATF1	chr20:26213000-26213056	K562	blood:	n/a	n/a
6	ATF1	chr20:26210887-26211336	K562	blood:	n/a	n/a
7	ATF1	chr20:26302622-26302991	K562	blood:	n/a	n/a
8	ATF1	chr20:26293066-26293834	K562	blood:	n/a	n/a
9	ATF1	chr20:26269527-26269727	K562	blood:	n/a	n/a
10	BACH1	chr20:26266555-26266850	K562	blood:	n/a	n/a
11	BACH1	chr20:26292130-26292159	K562	blood:	n/a	n/a
12	BACH1	chr20:26268242-26268311	K562	blood:	n/a	n/a
13	BACH1	chr20:26277375-26277379	K562	blood:	n/a	n/a
14	BATF	chr20:26274094-26274336	GM12878	blood:	n/a	n/a
15	BATF	chr20:26264552-26264856	GM12878	blood:	n/a	n/a
16	BATF	chr20:26289377-26289809	GM12878	blood:	n/a	n/a
17	BATF	chr20:26304145-26304465	GM12878	blood:	n/a	n/a
18	BATF	chr20:26280197-26280414	GM12878	blood:	n/a	n/a
19	BATF	chr20:26294664-26294948	GM12878	blood:	n/a	n/a
20	BATF	chr20:26274501-26274807	GM12878	blood:	n/a	n/a
21	BATF	chr20:26275040-26275408	GM12878	blood:	n/a	n/a
22	BATF	chr20:26265586-26265738	GM12878	blood:	n/a	n/a
23	BATF	chr20:26264565-26265102	GM12878	blood:	n/a	n/a
24	BATF	chr20:26280163-26280489	GM12878	blood:	n/a	n/a
25	BATF	chr20:26276995-26277268	GM12878	blood:	n/a	n/a
26	BATF	chr20:26302027-26302209	GM12878	blood:	n/a	n/a
27	BATF	chr20:26300048-26300304	GM12878	blood:	n/a	n/a
28	BATF	chr20:26280614-26280997	GM12878	blood:	n/a	n/a
29	BATF	chr20:26279090-26279314	GM12878	blood:	n/a	n/a
30	BATF	chr20:26291260-26291544	GM12878	blood:	n/a	n/a
31	BATF	chr20:26279518-26279803	GM12878	blood:	n/a	n/a
32	BATF	chr20:26265492-26265865	GM12878	blood:	n/a	n/a
33	BATF	chr20:26302277-26302844	GM12878	blood:	n/a	n/a
34	BATF	chr20:26301984-26302212	GM12878	blood:	n/a	n/a
35	BATF	chr20:26259933-26260309	GM12878	blood:	n/a	n/a
36	BATF	chr20:26302285-26302596	GM12878	blood:	n/a	n/a
37	BATF	chr20:26292348-26292680	GM12878	blood:	n/a	n/a
38	BCL11A	chr20:26280150-26280489	GM12878	blood:	n/a	n/a
39	BCL11A	chr20:26289408-26289617	GM12878	blood:	n/a	n/a
40	BCL11A	chr20:26289292-26289725	GM12878	blood:	n/a	n/a
41	BCL11A	chr20:26264587-26265146	GM12878	blood:	n/a	n/a
42	BCL11A	chr20:26304189-26304412	GM12878	blood:	n/a	n/a
43	BCL11A	chr20:26292370-26292600	GM12878	blood:	n/a	n/a
44	BCL11A	chr20:26300161-26300333	GM12878	blood:	n/a	n/a
45	BCL11A	chr20:26259908-26260344	GM12878	blood:	n/a	n/a
46	BCL11A	chr20:26265491-26265733	GM12878	blood:	n/a	n/a
47	BCL11A	chr20:26264648-26264913	GM12878	blood:	n/a	n/a
48	BCL11A	chr20:26262074-26262606	GM12878	blood:	n/a	n/a
49	BCL11A	chr20:26265451-26265811	GM12878	blood:	n/a	n/a
50	BCL11A	chr20:26276996-26277177	GM12878	blood:	n/a	n/a

No data

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

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

No data

Variant related genes	Relation type
MIR663A	TF binding region

Extended variants
information (count: 7154 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:7154 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535764466	chr20:26210447-26210448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62198243	chr20:26210452-26210453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs62198244	chr20:26210476-26210477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs549234532	chr20:26210496-26210497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7264815	chr20:26210501-26210502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs534974567	chr20:26210504-26210505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs558008919	chr20:26210510-26210511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs71237714	chr20:26210515-26210516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs578045974	chr20:26210519-26210520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4108366	chr20:26210547-26210548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62198246	chr20:26210551-26210552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs4108365	chr20:26210560-26210561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2944003	chr20:26210573-26210574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536875644	chr20:26210592-26210593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557177326	chr20:26210604-26210605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62198247	chr20:26210621-26210622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs542945840	chr20:26210628-26210629	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62198248	chr20:26210629-26210630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs559646345	chr20:26210656-26210657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62198255	chr20:26210660-26210661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs372104203	chr20:26210665-26210666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572792729	chr20:26210681-26210682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs544987727	chr20:26210682-26210683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113396991	chr20:26210686-26210687	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62198256	chr20:26210687-26210688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564861170	chr20:26210696-26210697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375907429	chr20:26210704-26210705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76342072	chr20:26210732-26210733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75078610	chr20:26210757-26210758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75499869	chr20:26210758-26210759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530615415	chr20:26210766-26210767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550229587	chr20:26210767-26210768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62198257	chr20:26210771-26210772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs142836269	chr20:26210810-26210811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs398121279	chr20:26210812-26210813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79818738	chr20:26210815-26210816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113074866	chr20:26210829-26210830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs73356233	chr20:26210878-26210879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs368803813	chr20:26210884-26210885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs555362947	chr20:26210885-26210886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs60546378	chr20:26210907-26210908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs80328626	chr20:26210908-26210909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376678738	chr20:26210909-26210910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs139759920	chr20:26210910-26210911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368739879	chr20:26210912-26210913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs371512979	chr20:26210913-26210914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs377380542	chr20:26210920-26210921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141514194	chr20:26210925-26210926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145957983	chr20:26210927-26210928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375449272	chr20:26210930-26210931	ZNF genes & repeats	n/a	n/a	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:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26200200-26214200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr20:26201800-26213400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr20:26207600-26214200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr20:26208600-26210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:26210000-26212000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:26210400-26212000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr20:26210800-26211400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:26211000-26211400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:26211200-26211400	Enhancers	Pancreas	Pancrea
10	chr20:26211400-26212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:26212800-26213000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:26213400-26214000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:26231400-26232000	Active TSS	K562	blood
14	chr20:26231800-26232400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:26232400-26236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:26233000-26233800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr20:26233200-26234200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr20:26233400-26233800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr20:26233400-26233800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr20:26233600-26234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr20:26233600-26234000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr20:26236000-26236400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:26241600-26242000	Enhancers	Dnd41	blood
24	chr20:26253000-26253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:26253200-26257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:26256600-26257600	Active TSS	Spleen	Spleen
27	chr20:26257000-26257200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:26257000-26257400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:26257000-26258200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr20:26257200-26257400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
31	chr20:26257200-26257600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr20:26257200-26257800	Active TSS	Osteobl	bone
33	chr20:26257200-26258000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr20:26257200-26258200	ZNF genes & repeats	Fetal Stomach	stomach
35	chr20:26257400-26257600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr20:26257400-26257800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:26257400-26257800	Active TSS	Fetal Brain Female	brain
40	chr20:26257400-26257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr20:26257400-26258000	Active TSS	Brain Anterior Caudate	brain
42	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:26257800-26258000	Enhancers	Fetal Heart	heart
44	chr20:26257800-26258200	Enhancers	Fetal Brain Male	brain
45	chr20:26257800-26259000	Weak transcription	Osteobl	bone
46	chr20:26258000-26259200	Weak transcription	Fetal Heart	heart
47	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr20:26258600-26258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr20:26258600-26258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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