Variant report

Variant	rs2245837
Chromosome Location	chr11:63934910-63934911
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr11:63934688-63934996	K562	blood:	n/a	n/a
2	POLR2A	chr11:63934874-63936207	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:63934892-63935010	HepG2	liver:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63932632..63935000-chr11:64083723..64085897,3	K562	blood:
2	chr11:63932104..63935640-chr11:64072605..64074491,3	MCF-7	breast:
3	chr11:63648937..63651255-chr11:63934710..63937332,2	K562	blood:
4	chr11:63752685..63755031-chr11:63931416..63935122,4	MCF-7	breast:
5	chr11:63932754..63935809-chr11:63963316..63968184,5	MCF-7	breast:
6	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
7	chr11:63933268..63934996-chr11:64053626..64055323,2	MCF-7	breast:
8	chr11:63731314..63732893-chr11:63933987..63936135,2	MCF-7	breast:
9	chr11:63929784..63936274-chr11:63944807..63955078,25	K562	blood:
10	chr11:63933271..63935059-chr11:64002653..64006652,3	MCF-7	breast:
11	chr11:63932237..63935005-chr11:63969874..63971968,3	MCF-7	breast:
12	chr11:63930758..63935103-chr11:64018023..64022943,7	MCF-7	breast:
13	chr11:63931311..63936745-chr11:63945647..63958123,49	MCF-7	breast:
14	chr11:63932116..63935124-chr11:64007812..64010252,3	MCF-7	breast:
15	chr11:63932568..63935141-chr11:63993755..63995910,2	MCF-7	breast:
16	chr11:63931987..63935535-chr11:64083979..64087332,4	K562	blood:
17	chr11:63931616..63933481-chr11:63934659..63936947,2	K562	blood:
18	chr11:63933599..63935402-chr11:64009536..64011698,2	K562	blood:
19	chr11:63929784..63936174-chr11:63947045..63954638,30	K562	blood:
20	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
21	chr11:63828618..63831064-chr11:63933817..63935814,2	K562	blood:
22	chr11:63932093..63937108-chr11:64035404..64039498,5	MCF-7	breast:
23	chr11:63931932..63936018-chr11:63996543..64001155,4	MCF-7	breast:
24	chr11:63931721..63935529-chr11:64007238..64009855,5	MCF-7	breast:
25	chr11:63752663..63755059-chr11:63933648..63935350,2	K562	blood:

No data

Variant related genes	Relation type
MACROD1	TF binding region
ENSG00000167771	Chromatin interaction
ENSG00000202089	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000110011	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000173486	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11549691	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1544538	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17851033	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1938817	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2070232	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2154984	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2186571	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622420	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2622422	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622424	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2622428	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2622430	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701530	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701536	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2701537	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2701539	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4980506	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs583799	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59250939	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs599549	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs615924	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs616652	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs639406	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs688241	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
12	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
13	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
15	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
17	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2245837	HSPC152	Cis_1M	lymphoblastoid	RTeQTL
rs2245837	PRDX5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63933000-63935200	Active TSS	HepG2	liver
2	chr11:63934200-63935000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:63934200-63935400	Enhancers	Placenta	Placenta
4	chr11:63934200-63935600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:63934200-63938000	Weak transcription	Colonic Mucosa	Colon
6	chr11:63934200-63941000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:63934200-63941200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:63934200-63941200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:63934200-63948000	Weak transcription	Right Ventricle	heart
10	chr11:63934200-63948200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:63934200-63948200	Weak transcription	Esophagus	oesophagus
12	chr11:63934200-63948200	Weak transcription	Stomach Mucosa	stomach
13	chr11:63934200-63948800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:63934200-63950800	Weak transcription	Gastric	stomach
15	chr11:63934400-63935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:63934400-63935600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:63934400-63939000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:63934400-63941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:63934400-63941200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:63934400-63944200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:63934400-63948000	Weak transcription	Right Atrium	heart
22	chr11:63934600-63935200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:63934600-63935800	Enhancers	Pancreas	Pancrea
24	chr11:63934600-63937200	Weak transcription	A549	lung
25	chr11:63934600-63938000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:63934600-63941000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:63934600-63941200	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:63934600-63944400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:63934800-63935000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:63934800-63935000	Flanking Active TSS	Dnd41	blood
31	chr11:63934800-63935000	Flanking Active TSS	Hela-S3	cervix
32	chr11:63934800-63935200	Flanking Active TSS	K562	blood
33	chr11:63934800-63935400	Weak transcription	Primary T cells fromperipheralblood	blood

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