Variant report

Variant	rs11909749
Chromosome Location	chr21:27945841-27945842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:27945840-27945886	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr21:27944549-27945937	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr21:27944821-27945877	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr21:27945739-27945940	H1-hESC	embryonic stem cell:	n/a	n/a
5	SETDB1	chr21:27945742-27946231	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:27945841-27945891	NHDF-neo	bronchial:	n/a
2	chr21:27945841-27945891	AG09309	skin:	n/a
3	chr21:27945841-27945891	PANC-1	pancreas:	n/a
4	chr21:27945841-27945891	Hepatocyte	liver:	n/a
5	chr21:27945841-27945891	HIPEpiC	eye:	n/a
6	chr21:27945841-27945891	HRE	kidney:	n/a
7	chr21:27945841-27945891	NB4	blood:	n/a
8	chr21:27945841-27945891	HCT-116	colon:	n/a
9	chr21:27945841-27945891	ovcar-3	ovarian:	n/a
10	chr21:27945841-27945891	HEEpiC	esophagus:	n/a
11	chr21:27945841-27945891	AG09319	gingival:	n/a
12	chr21:27945841-27945891	PrEC	prostate:	n/a
13	chr21:27945841-27945891	GM12891	blood:	n/a
14	chr21:27945841-27945891	HMEC	breast:	n/a
15	chr21:27945841-27945891	PFSK-1	brain:	n/a
16	chr21:27945841-27945891	BJ	skin:	n/a
17	chr21:27945841-27945891	NT2-D1	testis:	n/a
18	chr21:27945841-27945891	HAEpiC	amniotic membrane:	n/a
19	chr21:27945841-27945891	GM12892	blood:	n/a
20	chr21:27945841-27945891	K562	blood:	n/a
21	chr21:27945841-27945891	AG04449	skin:	fetal
22	chr21:27945841-27945891	NH-A	brain:	n/a
23	chr21:27945841-27945891	MCF10A-Er-Src	breast:	n/a
24	chr21:27945841-27945891	ProgFib	skin:	n/a
25	chr21:27945841-27945891	GM06990	blood:	n/a
26	chr21:27945841-27945891	MCF-7	breast:	n/a
27	chr21:27945841-27945891	HCM	heart:	n/a
28	chr21:27945841-27945891	GM12878	blood:	n/a
29	chr21:27945841-27945891	A549	lung:	n/a
30	chr21:27945841-27945891	HPAEpiC	pulmonary alveolar:	n/a
31	chr21:27945841-27945891	GM19239	blood:	n/a
32	chr21:27945841-27945891	HCF	heart:	n/a
33	chr21:27945841-27945891	T-47D	breast:	n/a
34	chr21:27945841-27945891	AG10803	skin:	n/a
35	chr21:27945841-27945891	CMK	blood:	n/a
36	chr21:27945841-27945891	NHBE	bronchial:	n/a
37	chr21:27945841-27945891	ECC-1	luminal epithelium:	n/a
38	chr21:27945841-27945891	AoSMC	blood vessel:	n/a
39	chr21:27945841-27945891	SK-N-MC	brain:	n/a
40	chr21:27945841-27945891	BE2_C	brain:	n/a
41	chr21:27945841-27945891	SK-N-SH_RA	brain:	n/a
42	chr21:27945841-27945891	HUVEC	blood vessel:	n/a
43	chr21:27945841-27945891	HCPEpiC	choroid plexus:	n/a
44	chr21:27945841-27945891	AG04450	lung:	fetal
45	chr21:27945841-27945891	RPTEC	kidney:	n/a
46	chr21:27945841-27945891	H1-hESC	embryonic stem cell:	embryo
47	chr21:27945841-27945891	HRCEpiC	kidney:	n/a
48	chr21:27945841-27945891	U87	brain:	n/a
49	chr21:27945841-27945891	HL-60	blood:	n/a
50	chr21:27945841-27945891	IMR90	lung:	fetal

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11909702	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11909722	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11909726	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12627626	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1893574	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2830292	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28379858	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28493969	0.86[ASN][1000 genomes]
rs62216535	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73351202	0.80[AMR][1000 genomes]
rs8129509	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9981504	0.82[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27942400-27946000	Active TSS	Right Atrium	heart
2	chr21:27943400-27946000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr21:27943400-27946000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr21:27943400-27946000	Active TSS	Fetal Lung	lung
5	chr21:27943400-27946000	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr21:27943400-27946200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr21:27943600-27946000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:27943600-27946000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr21:27943600-27946200	Active TSS	Fetal Kidney	kidney
10	chr21:27943800-27946000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:27943800-27946000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr21:27943800-27946200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr21:27943800-27946600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:27944000-27946200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr21:27944000-27946200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr21:27944200-27946000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr21:27944200-27946000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:27944200-27946000	Active TSS	NHEK	skin
19	chr21:27944200-27946200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:27944200-27946200	ZNF genes & repeats	Fetal Brain Male	brain
21	chr21:27944400-27946000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr21:27944400-27946000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:27944400-27946000	Active TSS	NH-A	brain
24	chr21:27944400-27946200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:27944600-27946000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:27944600-27946200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:27944800-27946000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
28	chr21:27944800-27946000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr21:27944800-27946000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr21:27944800-27946000	Active TSS	HUVEC	blood vessel
31	chr21:27945000-27946000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr21:27945000-27946200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr21:27945200-27946000	Bivalent/Poised TSS	Fetal Brain Female	brain
34	chr21:27945200-27946200	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr21:27945400-27946000	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr21:27945400-27946000	Active TSS	Adipose Nuclei	Adipose
37	chr21:27945400-27946200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:27945600-27946000	Active TSS	Primary hematopoietic stem cells	blood
39	chr21:27945600-27946000	Bivalent/Poised TSS	NHDF-Ad	bronchial
40	chr21:27945600-27946200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr21:27945600-27946200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:27945800-27946000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr21:27945800-27946000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr21:27945800-27946000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood

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