Variant report

Variant	rs396826
Chromosome Location	chr20:1208053-1208054
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	chr20:1207853-1208226	A549	lung:	n/a	chr20:1208031-1208042
2	JUND	chr20:1207533-1208178	K562	blood:	n/a	chr20:1207943-1207955
3	MYC	chr20:1207917-1208056	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr20:1207264-1208141	K562	blood:	n/a	n/a
5	ATF3	chr20:1207829-1208210	K562	blood:	n/a	chr20:1208032-1208043 chr20:1208032-1208043
6	JUN	chr20:1207929-1208303	HepG2	liver:	n/a	chr20:1207943-1207955 chr20:1208032-1208045
7	JUND	chr20:1207903-1208170	HepG2	liver:	n/a	chr20:1207943-1207955
8	CEBPB	chr20:1207859-1208215	IMR90	lung:	n/a	chr20:1208031-1208042
9	CEBPD	chr20:1207835-1208147	K562	blood:	n/a	chr20:1208032-1208043
10	CEBPB	chr20:1207804-1208209	K562	blood:	n/a	chr20:1208031-1208042
11	CEBPB	chr20:1207859-1208243	H1-hESC	embryonic stem cell:	n/a	chr20:1208031-1208042
12	CEBPB	chr20:1207880-1208104	K562	blood:	n/a	chr20:1208031-1208042
13	CEBPB	chr20:1207846-1208288	K562	blood:	n/a	chr20:1208031-1208042
14	CEBPB	chr20:1207921-1208088	HepG2	liver:	n/a	chr20:1208031-1208042
15	CEBPB	chr20:1207851-1208225	HepG2	liver:	n/a	chr20:1208031-1208042

No.	Distal block	Cell Line	Cell type
1	chr20:1206586..1208814-chr20:1304748..1306483,2	K562	blood:
2	chr20:1206796..1208958-chr20:1209065..1211253,2	MCF-7	breast:
3	chr20:1207352..1209653-chr20:1227300..1229207,2	K562	blood:
4	chr20:1207162..1208733-chr20:1230513..1232075,2	K562	blood:
5	chr20:1206971..1208847-chr20:1236164..1237785,2	K562	blood:
6	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:
7	chr20:1206916..1209904-chr20:1219433..1221518,2	K562	blood:

Variant related genes	Relation type
RAD21L1	TF binding region
ENSG00000234684	Chromatin interaction
ENSG00000125775	Chromatin interaction
ENSG00000244588	Chromatin interaction
ENSG00000101298	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs203527	0.96[AFR][1000 genomes]
rs203530	0.96[AFR][1000 genomes]
rs203531	0.96[AFR][1000 genomes]
rs203532	0.96[AFR][1000 genomes]
rs203533	0.96[AFR][1000 genomes]
rs387035	0.96[AFR][1000 genomes]
rs453311	0.96[AFR][1000 genomes]
rs6040983	0.89[AFR][1000 genomes]
rs651329	0.96[AFR][1000 genomes]
rs809290	0.96[AFR][1000 genomes]
rs912109	0.83[AFR][1000 genomes]
rs912110	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv516776	chr20:1195784-1233893	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912586	chr20:1195784-1248286	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv518957	chr20:1195784-1250463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv912587	chr20:1205886-1248286	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1206800-1208200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
2	chr20:1206800-1208200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr20:1207000-1208200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:1207000-1208200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr20:1207000-1208200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr20:1207200-1208200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr20:1207400-1208200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr20:1207400-1208200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
9	chr20:1207400-1208200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr20:1207400-1208200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:1207600-1208200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:1207600-1208200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:1207600-1208200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr20:1207600-1208200	Bivalent Enhancer	Brain Substantia Nigra	brain
15	chr20:1207600-1208200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr20:1207600-1208200	Enhancers	Ovary	ovary
17	chr20:1207600-1208200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr20:1207800-1208200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr20:1207800-1208200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr20:1207800-1208200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
21	chr20:1207800-1208200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:1207800-1208200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr20:1207800-1208200	Bivalent Enhancer	NHDF-Ad	bronchial
24	chr20:1207800-1208400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:1207800-1208400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:1208000-1208200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
27	chr20:1208000-1208200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:1208000-1208200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr20:1208000-1208200	Active TSS	Duodenum Mucosa	Duodenum
30	chr20:1208000-1208400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr20:1208000-1208400	Flanking Active TSS	K562	blood

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