Variant report

Variant	rs699798
Chromosome Location	chr20:23114248-23114249
allele	A/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	IRF1	chr20:23113128-23114704	K562	blood:	n/a	chr20:23113665-23113679 chr20:23113413-23113423
2	JUN	chr20:23112320-23114821	K562	blood:	n/a	n/a
3	STAT1	chr20:23113584-23114353	K562	blood:	n/a	chr20:23113721-23113730 chr20:23113754-23113763 chr20:23113722-23113731 chr20:23113719-23113733 chr20:23113755-23113764 chr20:23113752-23113766
4	GATA1	chr20:23112366-23114792	PBDE	blood:	n/a	chr20:23114421-23114428 chr20:23112798-23112808 chr20:23112795-23112811 chr20:23112799-23112806 chr20:23113821-23113838 chr20:23112799-23112808 chr20:23113832-23113839 chr20:23112799-23112806 chr20:23112792-23112813 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23112799-23112806 chr20:23112800-23112817 chr20:23113829-23113841
5	JUND	chr20:23112423-23114678	K562	blood:	n/a	n/a
6	MAX	chr20:23113109-23114655	K562	blood:	n/a	n/a
7	HDAC2	chr20:23114244-23114514	K562	blood:	n/a	n/a
8	ARID3A	chr20:23112529-23114612	K562	blood:	n/a	n/a
9	ZNF143	chr20:23114248-23114545	K562	blood:	n/a	n/a
10	BHLHE40	chr20:23111853-23114625	K562	blood:	n/a	chr20:23112998-23113014
11	MAFF	chr20:23113668-23114636	K562	blood:	n/a	n/a
12	EP300	chr20:23113188-23114477	K562	blood:	n/a	chr20:23113697-23113713
13	TEAD4	chr20:23112263-23114654	K562	blood:	n/a	n/a
14	MXI1	chr20:23114213-23114553	K562	blood:	n/a	n/a
15	CBX3	chr20:23114141-23114723	K562	blood:	n/a	n/a
16	NR2F2	chr20:23114137-23114546	K562	blood:	n/a	n/a
17	ATF1	chr20:23112449-23114574	K562	blood:	n/a	n/a
18	POLR2A	chr20:23112787-23114606	PBDE	blood:	n/a	n/a
19	JUN	chr20:23112548-23114618	K562	blood:	n/a	n/a
20	STAT5A	chr20:23114225-23114589	K562	blood:	n/a	chr20:23114367-23114375 chr20:23114370-23114382
21	EP300	chr20:23112414-23114689	K562	blood:	n/a	chr20:23114576-23114586 chr20:23113697-23113713
22	MYC	chr20:23113023-23114674	K562	blood:	n/a	n/a
23	GATA2	chr20:23113622-23114627	K562	blood:	n/a	chr20:23114421-23114428 chr20:23113821-23113838 chr20:23113832-23113839 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23113829-23113843 chr20:23113829-23113841
24	MYC	chr20:23112421-23114626	K562	blood:	n/a	n/a
25	RAD21	chr20:23114231-23114449	K562	blood:	n/a	n/a
26	CTCF	chr20:23114228-23114392	K562	blood:	n/a	n/a
27	POLR2A	chr20:23112817-23114710	K562	blood:	n/a	n/a
28	GATA2	chr20:23113472-23114550	HUVEC	blood vessel:	n/a	chr20:23114421-23114428 chr20:23113821-23113838 chr20:23113832-23113839 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23113829-23113843 chr20:23113829-23113841
29	CTCF	chr20:23114148-23114603	K562	blood:	n/a	n/a
30	TEAD4	chr20:23113055-23114641	K562	blood:	n/a	n/a
31	MAZ	chr20:23113011-23114656	K562	blood:	n/a	n/a
32	POLR2A	chr20:23112432-23114614	K562	blood:	n/a	n/a
33	CEBPD	chr20:23114168-23114718	K562	blood:	n/a	n/a
34	POLR2A	chr20:23111365-23114617	K562	blood:	n/a	n/a
35	SMARCA4	chr20:23112905-23114641	K562	blood:	n/a	n/a
36	RCOR1	chr20:23112451-23114626	K562	blood:	n/a	n/a
37	MAFK	chr20:23114235-23114634	K562	blood:	n/a	n/a
38	UBTF	chr20:23112857-23114573	K562	blood:	n/a	n/a
39	ZMIZ1	chr20:23112457-23114587	K562	blood:	n/a	n/a
40	POLR2A	chr20:23112432-23114625	K562	blood:	n/a	n/a
41	POLR2A	chr20:23114233-23114614	K562	blood:	n/a	n/a
42	TAL1	chr20:23112539-23114684	K562	blood:	n/a	chr20:23114509-23114518 chr20:23114308-23114317
43	MYC	chr20:23113047-23114589	K562	blood:	n/a	n/a
44	JUN	chr20:23113162-23114603	K562	blood:	n/a	n/a
45	JUN	chr20:23113157-23114722	K562	blood:	n/a	n/a
46	JUN	chr20:23113136-23114654	K562	blood:	n/a	n/a
47	STAT5A	chr20:23114110-23114629	K562	blood:	n/a	chr20:23114367-23114375 chr20:23114370-23114382
48	RAD21	chr20:23114236-23114414	K562	blood:	n/a	n/a
49	CUX1	chr20:23112937-23114506	K562	blood:	n/a	chr20:23114404-23114420
50	UBTF	chr20:23113300-23114645	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23112532..23115241-chr20:23342774..23344532,2	K562	blood:
2	chr20:23062655..23064534-chr20:23114013..23116942,2	K562	blood:

Variant related genes	Relation type
LINC00656	TF binding region
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs699796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844820	0.92[CEU][hapmap]
rs844867	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs844885	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs844886	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs844887	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs844888	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs844889	1.00[CEU][hapmap]
rs844891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs844892	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs844894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844900	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844907	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs844908	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23106800-23114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr20:23106800-23116400	Weak transcription	Esophagus	oesophagus
4	chr20:23109000-23120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:23110400-23121600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr20:23111000-23120400	Weak transcription	Pancreas	Pancrea
7	chr20:23111800-23114600	Flanking Active TSS	K562	blood
8	chr20:23112000-23114800	Enhancers	Fetal Muscle Trunk	muscle
9	chr20:23112400-23114600	Enhancers	Adipose Nuclei	Adipose
10	chr20:23112400-23114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:23112400-23114600	Enhancers	Right Atrium	heart
12	chr20:23112400-23114800	Enhancers	Dnd41	blood
13	chr20:23112400-23114800	Enhancers	HUVEC	blood vessel
14	chr20:23112600-23114600	Enhancers	Right Ventricle	heart
15	chr20:23112600-23114600	Enhancers	Spleen	Spleen
16	chr20:23112600-23114800	Enhancers	Fetal Muscle Leg	muscle
17	chr20:23112600-23116200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr20:23112600-23120600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr20:23112800-23114600	Enhancers	Left Ventricle	heart
20	chr20:23112800-23114600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr20:23113000-23114600	Enhancers	Fetal Stomach	stomach
22	chr20:23113200-23114600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr20:23113200-23114600	Enhancers	Fetal Lung	lung
24	chr20:23113600-23114400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:23113800-23114400	Enhancers	Fetal Heart	heart
26	chr20:23114000-23114400	Weak transcription	Psoas Muscle	Psoas
27	chr20:23114000-23114400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr20:23114000-23114600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr20:23114200-23114400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr20:23114200-23114600	Enhancers	Lung	lung
31	chr20:23114200-23115800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr20:23114200-23116400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:23114200-23120200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:23114200-23121800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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