Variant report

Variant	rs11680771
Chromosome Location	chr2:187868548-187868549
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr2:187867682-187868556	K562	blood:	n/a	chr2:187868108-187868117 chr2:187868150-187868160
2	CTCF	chr2:187868400-187868550	HPF	lung:	n/a	n/a
3	POLR2A	chr2:187867781-187868595	K562	blood:	n/a	n/a
4	NR2F2	chr2:187867599-187868556	K562	blood:	n/a	n/a
5	MAX	chr2:187868360-187868658	K562	blood:	n/a	n/a
6	POLR2A	chr2:187867588-187868667	K562	blood:	n/a	n/a
7	CTCF	chr2:187868540-187868690	GM12873	blood:	n/a	n/a
8	TBP	chr2:187867790-187868694	K562	blood:	n/a	n/a
9	MYC	chr2:187867854-187868641	K562	blood:	n/a	n/a
10	CTCF	chr2:187868022-187868574	K562	blood:	n/a	chr2:187868135-187868148 chr2:187868138-187868151
11	CTCF	chr2:187868440-187868730	AoAF	blood vessel:	n/a	n/a
12	MYC	chr2:187867821-187868680	K562	blood:	n/a	n/a
13	POLR2A	chr2:187867719-187868697	K562	blood:	n/a	n/a
14	MAZ	chr2:187867768-187868561	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187868263..187869936-chr2:188017498..188019004,2	K562	blood:

Variant related genes	Relation type
ENSG00000226553	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10197782	0.81[EUR][1000 genomes]
rs11677474	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34562118	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843326	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845716	1.00[ASN][1000 genomes]
rs4667140	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706704	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6709796	0.85[EUR][1000 genomes]
rs6736303	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738913	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187866800-187875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187867800-187868600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:187867800-187868600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:187867800-187868600	Active TSS	Adipose Nuclei	Adipose
5	chr2:187867800-187868600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr2:187867800-187868600	Active TSS	Fetal Muscle Leg	muscle
7	chr2:187867800-187868600	Active TSS	Fetal Stomach	stomach
8	chr2:187867800-187868600	Active TSS	Right Atrium	heart
9	chr2:187867800-187868800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:187867800-187868800	Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:187867800-187868800	Active TSS	Fetal Intestine Large	intestine
12	chr2:187867800-187868800	Active TSS	HSMM	muscle
13	chr2:187867800-187868800	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:187867800-187868800	Active TSS	NHDF-Ad	bronchial
15	chr2:187868000-187868600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:187868000-187868600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:187868000-187868600	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:187868000-187868600	Active TSS	Left Ventricle	heart
19	chr2:187868000-187868600	Active TSS	Ovary	ovary
20	chr2:187868000-187868600	Active TSS	Right Ventricle	heart
21	chr2:187868000-187868800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:187868000-187868800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:187868000-187868800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:187868000-187868800	Active TSS	Placenta	Placenta
25	chr2:187868000-187868800	Active TSS	Osteobl	bone
26	chr2:187868000-187869000	Active TSS	NHLF	lung
27	chr2:187868000-187869800	Active TSS	K562	blood
28	chr2:187868200-187868600	Active TSS	Primary T cells from cord blood	blood
29	chr2:187868200-187868600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:187868200-187868600	Active TSS	NH-A	brain
31	chr2:187868200-187868800	Active TSS	HUVEC	blood vessel
32	chr2:187868400-187868800	Flanking Active TSS	Fetal Intestine Small	intestine

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