Variant report

Variant	rs11909702
Chromosome Location	chr21:27945741-27945742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr21:27944937-27945786	H1-hESC	embryonic stem cell:	n/a	chr21:27945612-27945623 chr21:27945611-27945620 chr21:27945482-27945496
2	TBP	chr21:27944842-27945743	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr21:27944853-27945755	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr21:27944912-27945758	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr21:27944983-27945815	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr21:27944549-27945937	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr21:27944974-27945807	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr21:27944821-27945877	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr21:27945739-27945940	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr21:27945169-27945761	H1-hESC	embryonic stem cell:	n/a	chr21:27945608-27945618
11	POLR2A	chr21:27945221-27945832	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:27945708-27945758	PrEC	prostate:	n/a
2	chr21:27945708-27945758	PFSK-1	brain:	n/a
3	chr21:27945708-27945758	Hepatocyte	liver:	n/a
4	chr21:27945708-27945758	HAEpiC	amniotic membrane:	n/a
5	chr21:27945708-27945758	AG10803	skin:	n/a
6	chr21:27945708-27945758	T-47D	breast:	n/a
7	chr21:27945708-27945758	SK-N-SH_RA	brain:	n/a
8	chr21:27945708-27945758	HCM	heart:	n/a
9	chr21:27945708-27945758	NB4	blood:	n/a
10	chr21:27945708-27945758	GM06990	blood:	n/a
11	chr21:27945708-27945758	AoSMC	blood vessel:	n/a
12	chr21:27945708-27945758	LNCaP	prostate:	n/a
13	chr21:27945708-27945758	HepG2	liver:	n/a
14	chr21:27945708-27945758	SK-N-SH	brain:	n/a
15	chr21:27945708-27945758	NH-A	brain:	n/a
16	chr21:27945708-27945758	GM12878	blood:	n/a
17	chr21:27945708-27945758	NT2-D1	testis:	n/a
18	chr21:27945708-27945758	BJ	skin:	n/a
19	chr21:27945708-27945758	NHDF-neo	bronchial:	n/a
20	chr21:27945708-27945758	HCPEpiC	choroid plexus:	n/a
21	chr21:27945708-27945758	HUVEC	blood vessel:	n/a
22	chr21:27945708-27945758	AG04450	lung:	fetal
23	chr21:27945708-27945758	PANC-1	pancreas:	n/a
24	chr21:27945708-27945758	U87	brain:	n/a
25	chr21:27945708-27945758	GM12892	blood:	n/a
26	chr21:27945708-27945758	BE2_C	brain:	n/a
27	chr21:27945708-27945758	SK-N-MC	brain:	n/a
28	chr21:27945708-27945758	AG09319	gingival:	n/a
29	chr21:27945708-27945758	ProgFib	skin:	n/a
30	chr21:27945708-27945758	HCT-116	colon:	n/a
31	chr21:27945708-27945758	GM12891	blood:	n/a
32	chr21:27945708-27945758	SAEC	small airway:	n/a
33	chr21:27945708-27945758	HRE	kidney:	n/a
34	chr21:27945708-27945758	AG04449	skin:	fetal
35	chr21:27945708-27945758	Hela-S3	cervix:	n/a
36	chr21:27945708-27945758	MCF10A-Er-Src	breast:	n/a
37	chr21:27945708-27945758	K562	blood:	n/a
38	chr21:27945708-27945758	HMEC	breast:	n/a
39	chr21:27945708-27945758	HEEpiC	esophagus:	n/a
40	chr21:27945708-27945758	HIPEpiC	eye:	n/a
41	chr21:27945708-27945758	NHBE	bronchial:	n/a
42	chr21:27945708-27945758	SKMC	muscle:	n/a
43	chr21:27945708-27945758	RPTEC	kidney:	n/a
44	chr21:27945708-27945758	H1-hESC	embryonic stem cell:	embryo
45	chr21:27945708-27945758	A549	lung:	n/a
46	chr21:27945708-27945758	HEK293	kidney:	embryo
47	chr21:27945708-27945758	HCF	heart:	n/a
48	chr21:27945708-27945758	Caco-2	colon:	n/a
49	chr21:27945708-27945758	IMR90	lung:	fetal
50	chr21:27945708-27945758	AG09309	skin:	n/a

No data

Variant related genes	Relation type
CYYR1	TF binding region
CYYR1	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11909722	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11909726	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11909749	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627626	0.82[AMR][1000 genomes]
rs1893574	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2830292	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28379858	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28493969	0.86[ASN][1000 genomes]
rs59718907	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62216535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73351202	0.94[AFR][1000 genomes]
rs8129509	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9981504	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv544413	chr21:27942060-28065995	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27942400-27946000	Active TSS	Right Atrium	heart
2	chr21:27942600-27945800	Active TSS	Psoas Muscle	Psoas
3	chr21:27943400-27945800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:27943400-27946000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr21:27943400-27946000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr21:27943400-27946000	Active TSS	Fetal Lung	lung
7	chr21:27943400-27946000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr21:27943400-27946200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr21:27943600-27946000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:27943600-27946000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr21:27943600-27946200	Active TSS	Fetal Kidney	kidney
12	chr21:27943800-27946000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:27943800-27946000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr21:27943800-27946200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr21:27943800-27946600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:27944000-27946200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr21:27944000-27946200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr21:27944200-27945800	Active TSS	Fetal Stomach	stomach
19	chr21:27944200-27945800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr21:27944200-27946000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr21:27944200-27946000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:27944200-27946000	Active TSS	NHEK	skin
23	chr21:27944200-27946200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:27944200-27946200	ZNF genes & repeats	Fetal Brain Male	brain
25	chr21:27944400-27945800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:27944400-27945800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:27944400-27945800	Active TSS	Duodenum Mucosa	Duodenum
28	chr21:27944400-27946000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr21:27944400-27946000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:27944400-27946000	Active TSS	NH-A	brain
31	chr21:27944400-27946200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:27944600-27945800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:27944600-27945800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr21:27944600-27945800	Active TSS	Stomach Smooth Muscle	stomach
35	chr21:27944600-27946000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr21:27944600-27946200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:27944800-27945800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:27944800-27945800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr21:27944800-27945800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:27944800-27945800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:27944800-27945800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr21:27944800-27945800	Active TSS	HSMM	muscle
43	chr21:27944800-27946000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
44	chr21:27944800-27946000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr21:27944800-27946000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr21:27944800-27946000	Active TSS	HUVEC	blood vessel
47	chr21:27945000-27945800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:27945000-27945800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:27945000-27945800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr21:27945000-27945800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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