Variant report

Variant	rs55774907
Chromosome Location	chr11:62345272-62345273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
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	chr11:62344499-62345360	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:62344522-62345290	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:62343690-62345539	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:62345235-62345383	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:62340288-62345368	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:62344267..62349689-chr11:62366431..62369887,5	MCF-7	breast:
2	chr11:62337877..62349012-chr11:62352905..62362829,37	MCF-7	breast:
3	chr11:62338989..62347081-chr11:62430108..62436394,14	MCF-7	breast:
4	chr11:62343198..62345333-chr11:62432794..62434795,3	MCF-7	breast:
5	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3654	TF binding region
EEF1G	TF binding region
TUT1	TF binding region
ENSG00000149480	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000257058	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	1.00[AMR][1000 genomes]
rs11231140	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' 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	245 gene(s)	inside rSNPs	diseases
7	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' 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	489 gene(s)	inside rSNPs	diseases
9	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription 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	243 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62341800-62345400	Flanking Active TSS	HUVEC	blood vessel
2	chr11:62342400-62352600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:62342400-62358200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:62342600-62345800	Weak transcription	Aorta	Aorta
5	chr11:62342600-62348400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:62342600-62355000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:62342800-62347600	Strong transcription	Thymus	Thymus
8	chr11:62342800-62351200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:62342800-62355000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:62343000-62345800	Weak transcription	Small Intestine	intestine
11	chr11:62343000-62346400	Genic enhancers	Spleen	Spleen
12	chr11:62343000-62346600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:62343000-62346600	Weak transcription	Fetal Brain Male	brain
14	chr11:62343000-62348600	Weak transcription	Psoas Muscle	Psoas
15	chr11:62343000-62350200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:62343000-62352600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:62343000-62357000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:62343000-62358200	Weak transcription	Fetal Heart	heart
19	chr11:62343000-62358200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:62343200-62346400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:62343200-62346400	Strong transcription	Brain Cingulate Gyrus	brain
22	chr11:62343200-62346400	Strong transcription	NHEK	skin
23	chr11:62343200-62346600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:62343200-62347000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:62343200-62347200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:62343200-62347400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:62343200-62348400	Weak transcription	HSMM	muscle
28	chr11:62343200-62349200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr11:62343200-62349400	Strong transcription	Brain Hippocampus Middle	brain
30	chr11:62343200-62349600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:62343200-62349600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:62343200-62350000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:62343200-62351400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:62343200-62356800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:62343200-62356800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:62343200-62356800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:62343400-62346600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr11:62343400-62346600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:62343400-62346600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:62343400-62349400	Strong transcription	Brain Anterior Caudate	brain
41	chr11:62343400-62350000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:62343400-62350200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:62343400-62351600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:62343400-62355000	Weak transcription	NHDF-Ad	bronchial
45	chr11:62343400-62355400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:62343400-62355800	Strong transcription	Brain Germinal Matrix	brain
47	chr11:62343400-62356200	Strong transcription	Primary T cells from cord blood	blood
48	chr11:62343400-62356600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:62343400-62356600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:62343400-62356600	Strong transcription	Fetal Thymus	thymus

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