Variant report

Variant	rs551543492
Chromosome Location	chr21:44586131-44586132
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	E2F6	chr21:44585808-44586510	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFYB	chr21:44585889-44586190	GM12878	blood:	n/a	n/a
3	MAX	chr21:44585884-44586537	HepG2	liver:	n/a	n/a
4	MAX	chr21:44585911-44586454	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr21:44586091-44586284	HepG2	liver:	n/a	n/a
6	HNF4A	chr21:44586022-44586277	HepG2	liver:	n/a	chr21:44586173-44586188 chr21:44586148-44586163
7	MAX	chr21:44585841-44586534	HepG2	liver:	n/a	n/a
8	MXI1	chr21:44586014-44586332	HepG2	liver:	n/a	n/a
9	MAX	chr21:44585898-44586473	H1-hESC	embryonic stem cell:	n/a	n/a
10	HNF4A	chr21:44585963-44586363	HepG2	liver:	n/a	chr21:44586173-44586188 chr21:44586148-44586163
11	HNF4A	chr21:44586009-44586284	HepG2	liver:	n/a	chr21:44586173-44586188 chr21:44586148-44586163
12	E2F6	chr21:44585897-44586471	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44585524..44588327-chr21:44591894..44594890,2	K562	blood:
2	chr21:44584117..44588327-chr21:44591894..44594890,3	K562	blood:

Variant related genes	Relation type
ENSG00000228120	TF binding region
CRYAA	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44551800-44593200	Weak transcription	Right Atrium	heart
2	chr21:44579800-44586400	Enhancers	Fetal Muscle Leg	muscle
3	chr21:44582400-44593200	Weak transcription	Pancreas	Pancrea
4	chr21:44582400-44593600	Weak transcription	Gastric	stomach
5	chr21:44582800-44586600	Enhancers	HepG2	liver
6	chr21:44583000-44588200	Weak transcription	Lung	lung
7	chr21:44583200-44587400	Enhancers	Thymus	Thymus
8	chr21:44583200-44588200	Weak transcription	Spleen	Spleen
9	chr21:44583200-44588600	Enhancers	Fetal Thymus	thymus
10	chr21:44583200-44592800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:44583200-44593200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:44583200-44593400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:44584000-44588400	Weak transcription	Placenta	Placenta
14	chr21:44584200-44586200	Enhancers	Brain Germinal Matrix	brain
15	chr21:44584200-44588200	Weak transcription	Hela-S3	cervix
16	chr21:44584400-44586400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:44584800-44586400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr21:44584800-44586400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:44584800-44586400	Flanking Active TSS	GM12878-XiMat	blood
20	chr21:44585000-44586200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:44585000-44586200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:44585000-44586200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr21:44585000-44586400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr21:44585000-44586400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr21:44585000-44586400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:44585000-44586400	Enhancers	Brain Substantia Nigra	brain
27	chr21:44585200-44586200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr21:44585200-44586400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:44585200-44586400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr21:44585200-44586600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:44585600-44586200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr21:44585600-44586400	Enhancers	Colonic Mucosa	Colon
33	chr21:44585600-44586600	Enhancers	Duodenum Mucosa	Duodenum
34	chr21:44585600-44587000	Weak transcription	A549	lung
35	chr21:44585600-44589000	Enhancers	Liver	Liver
36	chr21:44585800-44586200	Enhancers	Fetal Intestine Large	intestine
37	chr21:44585800-44586200	Enhancers	Fetal Intestine Small	intestine
38	chr21:44586000-44587000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr21:44586000-44589400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr21:44586000-44592800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:44586000-44593400	Weak transcription	Brain Anterior Caudate	brain

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