Variant report

Variant	rs11700709
Chromosome Location	chr21:44589569-44589570
allele	C/T
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	MAX	chr21:44589367-44589685	K562	blood:	n/a	chr21:44589559-44589569 chr21:44589559-44589570 chr21:44589559-44589570 chr21:44589560-44589569 chr21:44589559-44589569 chr21:44589558-44589571
2	POLR2A	chr21:44589554-44589629	HepG2	liver:	n/a	n/a
3	POLR2A	chr21:44589515-44590742	HepG2	liver:	n/a	n/a
4	MAX	chr21:44589532-44589722	HepG2	liver:	n/a	chr21:44589559-44589569 chr21:44589559-44589570 chr21:44589559-44589570 chr21:44589560-44589569 chr21:44589559-44589569 chr21:44589558-44589571
5	BHLHE40	chr21:44589502-44589683	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:44313359..44315937-chr21:44587596..44590117,2	K562	blood:
2	chr21:44580202..44583529-chr21:44588979..44591851,4	K562	blood:
3	chr21:44514426..44517205-chr21:44589542..44591909,2	K562	blood:

Variant related genes	Relation type
CRYAA	TF binding region
ENSG00000160194	Chromatin interaction
ENSG00000228120	Chromatin interaction
ENSG00000160201	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13048458	0.88[ASN][1000 genomes]
rs13053109	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36067897	0.92[ASN][1000 genomes]
rs3761382	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
6	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
8	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv587664	chr21:44585405-44598827	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44551800-44593200	Weak transcription	Right Atrium	heart
2	chr21:44582400-44593200	Weak transcription	Pancreas	Pancrea
3	chr21:44582400-44593600	Weak transcription	Gastric	stomach
4	chr21:44583200-44592800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr21:44583200-44593200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:44583200-44593400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:44586000-44592800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:44586000-44593400	Weak transcription	Brain Anterior Caudate	brain
9	chr21:44586200-44597000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:44586400-44592200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:44586400-44592800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:44587600-44592600	Weak transcription	GM12878-XiMat	blood
13	chr21:44588200-44591400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:44588200-44595600	Weak transcription	A549	lung
15	chr21:44588600-44591400	Weak transcription	Fetal Thymus	thymus
16	chr21:44588800-44591200	Weak transcription	Placenta	Placenta
17	chr21:44589000-44589800	Flanking Active TSS	Liver	Liver
18	chr21:44589200-44590400	Enhancers	Fetal Muscle Leg	muscle
19	chr21:44589200-44590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:44589200-44593200	Weak transcription	Lung	lung
21	chr21:44589400-44589600	Enhancers	Spleen	Spleen
22	chr21:44589400-44590200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr21:44589400-44590200	Enhancers	Duodenum Mucosa	Duodenum
24	chr21:44589400-44590400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:44589400-44590600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:44589400-44590800	Flanking Active TSS	HepG2	liver

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