Variant report

Variant	rs7272235
Chromosome Location	chr20:21682901-21682902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
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	SUZ12	chr20:21682729-21685905	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:21682854-21682904	GM12892	blood:	n/a
2	chr20:21682854-21682904	HPAEpiC	pulmonary alveolar:	n/a
3	chr20:21682854-21682904	PANC-1	pancreas:	n/a
4	chr20:21682854-21682904	HCPEpiC	choroid plexus:	n/a
5	chr20:21682854-21682904	AG09319	gingival:	n/a
6	chr20:21682854-21682904	Jurkat	blood:	n/a
7	chr20:21682854-21682904	NHBE	bronchial:	n/a
8	chr20:21682854-21682904	HIPEpiC	eye:	n/a
9	chr20:21682854-21682904	PrEC	prostate:	n/a
10	chr20:21682854-21682904	HUVEC	blood vessel:	n/a
11	chr20:21682854-21682904	NT2-D1	testis:	n/a
12	chr20:21682854-21682904	SK-N-SH	brain:	n/a
13	chr20:21682854-21682904	HL-60	blood:	n/a
14	chr20:21682854-21682904	GM06990	blood:	n/a
15	chr20:21682854-21682904	LNCaP	prostate:	n/a
16	chr20:21682854-21682904	ovcar-3	ovarian:	n/a
17	chr20:21682854-21682904	HEK293	kidney:	embryo
18	chr20:21682854-21682904	MCF-7	breast:	n/a
19	chr20:21682854-21682904	BE2_C	brain:	n/a
20	chr20:21682854-21682904	SKMC	muscle:	n/a
21	chr20:21682854-21682904	AG04450	lung:	fetal
22	chr20:21682854-21682904	HRE	kidney:	n/a
23	chr20:21682854-21682904	HNPCEpiC	eye:	n/a
24	chr20:21682854-21682904	GM12891	blood:	n/a
25	chr20:21682854-21682904	HCF	heart:	n/a
26	chr20:21682854-21682904	NH-A	brain:	n/a
27	chr20:21682854-21682904	ECC-1	luminal epithelium:	n/a
28	chr20:21682854-21682904	HMEC	breast:	n/a
29	chr20:21682854-21682904	U87	brain:	n/a
30	chr20:21682854-21682904	CMK	blood:	n/a
31	chr20:21682854-21682904	SK-N-SH_RA	brain:	n/a
32	chr20:21682854-21682904	HEEpiC	esophagus:	n/a
33	chr20:21682854-21682904	SK-N-MC	brain:	n/a
34	chr20:21682854-21682904	HCT-116	colon:	n/a
35	chr20:21682854-21682904	PFSK-1	brain:	n/a
36	chr20:21682854-21682904	GM19239	blood:	n/a
37	chr20:21682854-21682904	AG10803	skin:	n/a
38	chr20:21682854-21682904	NB4	blood:	n/a
39	chr20:21682854-21682904	ProgFib	skin:	n/a
40	chr20:21682854-21682904	A549	lung:	n/a
41	chr20:21682854-21682904	HAEpiC	amniotic membrane:	n/a
42	chr20:21682854-21682904	HRCEpiC	kidney:	n/a
43	chr20:21682854-21682904	HRPEpiC	eye:	n/a
44	chr20:21682854-21682904	T-47D	breast:	n/a
45	chr20:21682854-21682904	SAEC	small airway:	n/a
46	chr20:21682854-21682904	HCM	heart:	n/a
47	chr20:21682854-21682904	IMR90	lung:	fetal
48	chr20:21682854-21682904	RPTEC	kidney:	n/a
49	chr20:21682854-21682904	BJ	skin:	n/a
50	chr20:21682854-21682904	AG09309	skin:	n/a

No data

Variant related genes	Relation type
PAX1	TF binding region
PAX1	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16982789	1.00[AMR][1000 genomes]
rs7274703	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21681400-21683400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr20:21681800-21686000	Bivalent/Poised TSS	Fetal Thymus	thymus
3	chr20:21682000-21683400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:21682000-21683400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr20:21682000-21683600	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr20:21682000-21684600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:21682000-21684600	Bivalent Enhancer	Fetal Stomach	stomach
8	chr20:21682200-21683000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr20:21682200-21683400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr20:21682200-21683400	Weak transcription	Pancreas	Pancrea
11	chr20:21682200-21683600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:21682200-21683600	Bivalent Enhancer	Fetal Lung	lung
13	chr20:21682200-21683800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr20:21682200-21683800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr20:21682200-21684200	Bivalent Enhancer	Lung	lung
16	chr20:21682600-21683600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr20:21682600-21684600	Bivalent/Poised TSS	Thymus	Thymus
18	chr20:21682800-21684400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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