Variant report

Variant	rs543988286
Chromosome Location	chr20:1205396-1205397
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr20:1205310-1205610	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1205357-1205407	NH-A	brain:	n/a
2	chr20:1205378-1205428	IMR90	lung:	fetal
3	chr20:1205378-1205428	MCF-7	breast:	n/a
4	chr20:1205378-1205428	HCF	heart:	n/a
5	chr20:1205378-1205428	Hela-S3	cervix:	n/a
6	chr20:1205357-1205407	AG09309	skin:	n/a
7	chr20:1205357-1205407	AG10803	skin:	n/a
8	chr20:1205378-1205428	SAEC	small airway:	n/a
9	chr20:1205357-1205407	AG09319	gingival:	n/a
10	chr20:1205378-1205428	HIPEpiC	eye:	n/a
11	chr20:1205378-1205428	Caco-2	colon:	n/a
12	chr20:1205357-1205407	HIPEpiC	eye:	n/a
13	chr20:1205357-1205407	HEK293	kidney:	embryo
14	chr20:1205357-1205407	NT2-D1	testis:	n/a
15	chr20:1205357-1205407	SK-N-MC	brain:	n/a
16	chr20:1205378-1205428	GM12891	blood:	n/a
17	chr20:1205378-1205428	GM12878	blood:	n/a
18	chr20:1205378-1205428	U87	brain:	n/a
19	chr20:1205378-1205428	NH-A	brain:	n/a
20	chr20:1205357-1205407	PFSK-1	brain:	n/a
21	chr20:1205378-1205428	HAEpiC	amniotic membrane:	n/a
22	chr20:1205357-1205407	Hela-S3	cervix:	n/a
23	chr20:1205378-1205428	BJ	skin:	n/a
24	chr20:1205378-1205428	AG09309	skin:	n/a
25	chr20:1205357-1205407	SK-N-SH	brain:	n/a
26	chr20:1205378-1205428	A549	lung:	n/a
27	chr20:1205357-1205407	T-47D	breast:	n/a
28	chr20:1205357-1205407	HCM	heart:	n/a
29	chr20:1205378-1205428	HL-60	blood:	n/a
30	chr20:1205357-1205407	HepG2	liver:	n/a
31	chr20:1205357-1205407	AG04450	lung:	fetal
32	chr20:1205357-1205407	PANC-1	pancreas:	n/a
33	chr20:1205378-1205428	HRE	kidney:	n/a
34	chr20:1205357-1205407	SKMC	muscle:	n/a
35	chr20:1205357-1205407	AG04449	skin:	fetal
36	chr20:1205378-1205428	ovcar-3	ovarian:	n/a
37	chr20:1205378-1205428	CMK	blood:	n/a
38	chr20:1205378-1205428	T-47D	breast:	n/a
39	chr20:1205357-1205407	HPAEpiC	pulmonary alveolar:	n/a
40	chr20:1205378-1205428	H1-hESC	embryonic stem cell:	embryo
41	chr20:1205357-1205407	SK-N-SH_RA	brain:	n/a
42	chr20:1205378-1205428	GM12892	blood:	n/a
43	chr20:1205378-1205428	HUVEC	blood vessel:	n/a
44	chr20:1205378-1205428	NB4	blood:	n/a
45	chr20:1205378-1205428	HRPEpiC	eye:	n/a
46	chr20:1205378-1205428	GM06990	blood:	n/a
47	chr20:1205378-1205428	SK-N-SH_RA	brain:	n/a
48	chr20:1205357-1205407	K562	blood:	n/a
49	chr20:1205378-1205428	AG04449	skin:	fetal
50	chr20:1205357-1205407	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:

No data

Variant related genes	Relation type
RAD21L1	TF binding region
RAD21L1	CpG island
ENSG00000101298	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv516776	chr20:1195784-1233893	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912586	chr20:1195784-1248286	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv518957	chr20:1195784-1250463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3436470	chr20:1205377-1207925	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1204200-1206000	Weak transcription	Psoas Muscle	Psoas
2	chr20:1205000-1205800	Enhancers	K562	blood

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