Variant report

Variant	rs3761382
Chromosome Location	chr21:44588423-44588424
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	CTCF	chr21:44588360-44588510	GM12874	blood:	n/a	n/a
2	RAD21	chr21:44588318-44588778	H1-hESC	embryonic stem cell:	n/a	chr21:44588526-44588536 chr21:44588563-44588572
3	USF2	chr21:44588384-44588553	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr21:44588367-44588709	K562	blood:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
5	MAZ	chr21:44588410-44588602	K562	blood:	n/a	chr21:44588469-44588484 chr21:44588467-44588482 chr21:44588469-44588482 chr21:44588470-44588480 chr21:44588471-44588480 chr21:44588471-44588481 chr21:44588466-44588485
6	CTCF	chr21:44588400-44588550	GM12869	blood:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
7	CTCF	chr21:44588404-44588661	HepG2	liver:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
8	MAX	chr21:44588064-44588737	K562	blood:	n/a	chr21:44588469-44588484 chr21:44588467-44588482 chr21:44588469-44588482 chr21:44588470-44588480 chr21:44588471-44588480 chr21:44588471-44588481 chr21:44588466-44588485
9	CEBPB	chr21:44588295-44588490	HepG2	liver:	n/a	n/a
10	MYC	chr21:44588327-44588668	K562	blood:	n/a	chr21:44588469-44588484 chr21:44588467-44588482 chr21:44588469-44588482 chr21:44588470-44588480 chr21:44588471-44588480 chr21:44588471-44588481 chr21:44588466-44588485
11	CTCF	chr21:44588377-44588654	K562	blood:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
12	USF1	chr21:44588346-44588628	K562	blood:	n/a	chr21:44588560-44588576 chr21:44588520-44588531
13	MAX	chr21:44588415-44588616	NB4	blood:	n/a	chr21:44588469-44588484 chr21:44588467-44588482 chr21:44588469-44588482 chr21:44588470-44588480 chr21:44588471-44588480 chr21:44588471-44588481 chr21:44588466-44588485
14	MYC	chr21:44588329-44588685	K562	blood:	n/a	chr21:44588469-44588484 chr21:44588467-44588482 chr21:44588469-44588482 chr21:44588470-44588480 chr21:44588471-44588480 chr21:44588471-44588481 chr21:44588466-44588485
15	CTCF	chr21:44588250-44588771	K562	blood:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
16	MAX	chr21:44588316-44588618	K562	blood:	n/a	chr21:44588469-44588484 chr21:44588467-44588482 chr21:44588469-44588482 chr21:44588470-44588480 chr21:44588471-44588480 chr21:44588471-44588481 chr21:44588466-44588485
17	CTCF	chr21:44588388-44588702	K562	blood:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
18	USF1	chr21:44588304-44588619	H1-hESC	embryonic stem cell:	n/a	chr21:44588560-44588576 chr21:44588520-44588531
19	SMC3	chr21:44588419-44588619	K562	blood:	n/a	n/a
20	RAD21	chr21:44588366-44588625	HepG2	liver:	n/a	chr21:44588526-44588536 chr21:44588563-44588572
21	RCOR1	chr21:44588369-44588600	K562	blood:	n/a	n/a
22	CTCF	chr21:44588420-44588570	HBMEC	blood vessel:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
23	MAX	chr21:44588361-44588679	K562	blood:	n/a	chr21:44588469-44588484 chr21:44588467-44588482 chr21:44588469-44588482 chr21:44588470-44588480 chr21:44588471-44588480 chr21:44588471-44588481 chr21:44588466-44588485
24	CEBPB	chr21:44588227-44588466	K562	blood:	n/a	n/a
25	E2F6	chr21:44588356-44588604	K562	blood:	n/a	n/a
26	USF1	chr21:44588318-44588590	K562	blood:	n/a	chr21:44588560-44588576 chr21:44588520-44588531
27	CTCF	chr21:44588360-44588510	GM12875	blood:	n/a	n/a
28	CTCF	chr21:44588420-44588570	GM12870	blood:	n/a	chr21:44588530-44588539 chr21:44588524-44588542
29	ELF1	chr21:44588335-44588657	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:44313359..44315937-chr21:44587596..44590117,2	K562	blood:
2	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
3	chr21:44586707..44588731-chr21:44590520..44593173,2	MCF-7	breast:
4	chr21:44558875..44559792-chr21:44588138..44589057,3	MCF-7	breast:
5	chr21:44558785..44559689-chr21:44588340..44588847,2	MCF-7	breast:

Variant related genes	Relation type
CRYAA	TF binding region
ENSG00000142178	Chromatin interaction
ENSG00000160194	Chromatin interaction

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

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

rs_ID	r²[population]
rs11700709	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13048458	0.88[ASN][1000 genomes]
rs13053109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36067897	0.81[EUR][1000 genomes];0.92[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:27 , 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	chr21:44583200-44588600	Enhancers	Fetal Thymus	thymus
5	chr21:44583200-44592800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:44583200-44593200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:44583200-44593400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:44585600-44589000	Enhancers	Liver	Liver
9	chr21:44586000-44589400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:44586000-44592800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:44586000-44593400	Weak transcription	Brain Anterior Caudate	brain
12	chr21:44586200-44589400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:44586200-44597000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr21:44586400-44589200	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:44586400-44589400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:44586400-44592200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:44586400-44592800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:44587200-44589400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr21:44587600-44592600	Weak transcription	GM12878-XiMat	blood
20	chr21:44588200-44588600	Enhancers	Hela-S3	cervix
21	chr21:44588200-44588600	Bivalent Enhancer	K562	blood
22	chr21:44588200-44589400	Enhancers	HepG2	liver
23	chr21:44588200-44591400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:44588200-44595600	Weak transcription	A549	lung
25	chr21:44588400-44588800	Enhancers	Placenta	Placenta
26	chr21:44588400-44588800	Weak transcription	Spleen	Spleen
27	chr21:44588400-44589000	Weak transcription	Lung	lung

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