Variant report

Variant	rs72899280
Chromosome Location	chr11:45599489-45599490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:45599380-45599758	H1-hESC	embryonic stem cell:	n/a	chr11:45599518-45599528 chr11:45599518-45599528 chr11:45599518-45599528
2	EP300	chr11:45599363-45599608	H1-hESC	embryonic stem cell:	n/a	n/a
3	NANOG	chr11:45599255-45599535	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:45599338-45599578	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	chr11:45599468-45599518	HCM	heart:	n/a
2	chr11:45599468-45599518	AG10803	skin:	n/a
3	chr11:45599468-45599518	HCT-116	colon:	n/a
4	chr11:45599468-45599518	HEEpiC	esophagus:	n/a
5	chr11:45599468-45599518	NHDF-neo	bronchial:	n/a
6	chr11:45599468-45599518	GM06990	blood:	n/a
7	chr11:45599468-45599518	Hela-S3	cervix:	n/a
8	chr11:45599468-45599518	NHBE	bronchial:	n/a
9	chr11:45599468-45599518	HUVEC	blood vessel:	n/a
10	chr11:45599468-45599518	U87	brain:	n/a
11	chr11:45599468-45599518	A549	lung:	n/a
12	chr11:45599468-45599518	HCPEpiC	choroid plexus:	n/a
13	chr11:45599468-45599518	HCF	heart:	n/a
14	chr11:45599468-45599518	GM12892	blood:	n/a
15	chr11:45599468-45599518	MCF-7	breast:	n/a
16	chr11:45599468-45599518	NH-A	brain:	n/a
17	chr11:45599468-45599518	ECC-1	luminal epithelium:	n/a
18	chr11:45599468-45599518	NT2-D1	testis:	n/a
19	chr11:45599468-45599518	K562	blood:	n/a
20	chr11:45599468-45599518	HepG2	liver:	n/a
21	chr11:45599468-45599518	PFSK-1	brain:	n/a
22	chr11:45599468-45599518	AG09319	gingival:	n/a
23	chr11:45599468-45599518	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:45599468-45599518	SK-N-SH	brain:	n/a
25	chr11:45599468-45599518	GM12891	blood:	n/a
26	chr11:45599468-45599518	HIPEpiC	eye:	n/a
27	chr11:45599468-45599518	BE2_C	brain:	n/a
28	chr11:45599468-45599518	HMEC	breast:	n/a
29	chr11:45599468-45599518	AoSMC	blood vessel:	n/a
30	chr11:45599468-45599518	SAEC	small airway:	n/a
31	chr11:45599468-45599518	BJ	skin:	n/a
32	chr11:45599468-45599518	Caco-2	colon:	n/a
33	chr11:45599468-45599518	SKMC	muscle:	n/a
34	chr11:45599468-45599518	PrEC	prostate:	n/a
35	chr11:45599468-45599518	AG09309	skin:	n/a
36	chr11:45599468-45599518	HAEpiC	amniotic membrane:	n/a
37	chr11:45599468-45599518	Jurkat	blood:	n/a
38	chr11:45599468-45599518	MCF10A-Er-Src	breast:	n/a
39	chr11:45599468-45599518	T-47D	breast:	n/a
40	chr11:45599468-45599518	HNPCEpiC	eye:	n/a
41	chr11:45599468-45599518	HRCEpiC	kidney:	n/a
42	chr11:45599468-45599518	RPTEC	kidney:	n/a
43	chr11:45599468-45599518	SK-N-SH_RA	brain:	n/a
44	chr11:45599468-45599518	AG04449	skin:	fetal
45	chr11:45599468-45599518	LNCaP	prostate:	n/a
46	chr11:45599468-45599518	GM19239	blood:	n/a
47	chr11:45599468-45599518	HL-60	blood:	n/a
48	chr11:45599468-45599518	GM12878	blood:	n/a
49	chr11:45599468-45599518	H1-hESC	embryonic stem cell:	embryo
50	chr11:45599468-45599518	NB4	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000254514	TF binding region
ENSG00000254514	CpG island

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10742762	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10742763	1.00[ASN][1000 genomes]
rs10769161	1.00[ASN][1000 genomes]
rs10769162	1.00[ASN][1000 genomes]
rs10838493	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10838494	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10838495	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10838496	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10838497	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038524	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038525	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038528	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038530	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038531	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038533	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038538	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038539	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038543	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038544	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038549	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038551	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038552	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038559	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038560	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038563	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038566	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038567	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038568	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038569	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038570	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038571	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038572	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038573	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038575	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038576	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038581	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038582	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038594	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038596	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038598	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038599	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038600	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038601	1.00[ASN][1000 genomes]
rs11038603	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038606	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038615	1.00[ASN][1000 genomes]
rs12362568	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12362984	1.00[ASN][1000 genomes]
rs12363116	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363231	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12364128	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12364847	1.00[ASN][1000 genomes]
rs12365421	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12365436	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12365703	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366014	1.00[ASN][1000 genomes]
rs1387058	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447573	1.00[AMR][1000 genomes]
rs1488677	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562461	1.00[ASN][1000 genomes]
rs17724240	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17724446	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17786178	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17786436	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2028985	1.00[ASN][1000 genomes]
rs275597	1.00[ASN][1000 genomes]
rs45627537	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4756007	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4756011	0.83[AMR][1000 genomes]
rs4756013	1.00[ASN][1000 genomes]
rs4756014	1.00[ASN][1000 genomes]
rs6485637	1.00[ASN][1000 genomes]
rs7104214	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7105647	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7116428	1.00[ASN][1000 genomes]
rs7121818	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7121848	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72895235	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895236	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895273	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896754	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896772	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896789	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72898653	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72898676	1.00[ASN][1000 genomes]
rs72899255	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904957	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904980	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904984	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904993	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72904994	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72904997	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72910675	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72910679	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7947626	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs895718	1.00[ASN][1000 genomes]
rs901907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45598000-45600000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:45598200-45599800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:45598200-45600000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:45598400-45599800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr11:45598400-45600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:45598400-45600200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:45598600-45600000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:45598600-45600000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:45598600-45600200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:45598800-45599800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:45598800-45599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:45598800-45600200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:45599000-45600200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:45599200-45600000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:45599200-45600200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:45599200-45606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:45599400-45599600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:45599400-45599600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr11:45599400-45600000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:45599400-45600000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:45599400-45600200	Enhancers	Brain Germinal Matrix	brain

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