Variant report

Variant	rs73909222
Chromosome Location	chr21:46078615-46078616
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	CEBPB	chr21:46078364-46078618	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
KRTAP12-4	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56066521	0.87[AFR][1000 genomes]
rs57334195	1.00[AMR][1000 genomes]
rs59256622	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73907078	1.00[AMR][1000 genomes]
rs73907084	1.00[AMR][1000 genomes]
rs73907085	1.00[AMR][1000 genomes]
rs73907089	1.00[AMR][1000 genomes]
rs73909205	1.00[AMR][1000 genomes]
rs73909206	1.00[AMR][1000 genomes]
rs73909214	1.00[AMR][1000 genomes]
rs73909215	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46073600-46079800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr21:46073600-46080200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:46076800-46078800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr21:46076800-46080000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:46077000-46079400	Enhancers	Dnd41	blood
6	chr21:46077200-46079000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr21:46077200-46080400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr21:46077400-46080200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr21:46077600-46078800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr21:46077800-46080200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr21:46078000-46078800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:46078000-46078800	Enhancers	Fetal Thymus	thymus
13	chr21:46078000-46079200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:46078000-46079400	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr21:46078200-46078800	Enhancers	Primary B cells from peripheral blood	blood
16	chr21:46078200-46079200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr21:46078200-46079200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr21:46078200-46079400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:46078200-46079600	Enhancers	Primary T cells from cord blood	blood
20	chr21:46078200-46079800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr21:46078200-46081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:46078400-46079200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:46078400-46080000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:46078400-46080200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr21:46078400-46080800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr21:46078600-46078800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr21:46078600-46078800	Bivalent Enhancer	Esophagus	oesophagus
28	chr21:46078600-46079200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:46078600-46079200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:46078600-46079200	Enhancers	HepG2	liver
31	chr21:46078600-46080400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr21:46078600-46080600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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