Variant report

Variant	rs946370
Chromosome Location	chr20:23114094-23114095
allele	A/C/G/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	ARID3A	chr20:23112529-23114612	K562	blood:	n/a	n/a
8	BHLHE40	chr20:23111853-23114625	K562	blood:	n/a	chr20:23112998-23113014
9	MAFF	chr20:23113668-23114636	K562	blood:	n/a	n/a
10	POLR2A	chr20:23113064-23114094	K562	blood:	n/a	n/a
11	EP300	chr20:23113188-23114477	K562	blood:	n/a	chr20:23113697-23113713
12	TEAD4	chr20:23112263-23114654	K562	blood:	n/a	n/a
13	ATF1	chr20:23112449-23114574	K562	blood:	n/a	n/a
14	POLR2A	chr20:23112787-23114606	PBDE	blood:	n/a	n/a
15	STAT5A	chr20:23113175-23114094	K562	blood:	n/a	chr20:23113721-23113730 chr20:23113754-23113763 chr20:23113722-23113731 chr20:23113719-23113733 chr20:23113755-23113764 chr20:23113752-23113766
16	JUN	chr20:23112548-23114618	K562	blood:	n/a	n/a
17	EP300	chr20:23112414-23114689	K562	blood:	n/a	chr20:23114576-23114586 chr20:23113697-23113713
18	NR2F2	chr20:23113138-23114115	K562	blood:	n/a	n/a
19	MYC	chr20:23113023-23114674	K562	blood:	n/a	n/a
20	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
21	MYC	chr20:23112421-23114626	K562	blood:	n/a	n/a
22	POLR2A	chr20:23112817-23114710	K562	blood:	n/a	n/a
23	CREB1	chr20:23112811-23114208	K562	blood:	n/a	n/a
24	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
25	TEAD4	chr20:23113055-23114641	K562	blood:	n/a	n/a
26	MAZ	chr20:23113011-23114656	K562	blood:	n/a	n/a
27	GATA2	chr20:23113362-23114110	K562	blood:	n/a	chr20:23113821-23113838 chr20:23113832-23113839 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23113829-23113843 chr20:23113829-23113841
28	POLR2A	chr20:23112432-23114614	K562	blood:	n/a	n/a
29	CEBPD	chr20:23113108-23114143	K562	blood:	n/a	n/a
30	POLR2A	chr20:23111365-23114617	K562	blood:	n/a	n/a
31	SMARCA4	chr20:23112905-23114641	K562	blood:	n/a	n/a
32	RCOR1	chr20:23112451-23114626	K562	blood:	n/a	n/a
33	UBTF	chr20:23112857-23114573	K562	blood:	n/a	n/a
34	ZMIZ1	chr20:23112457-23114587	K562	blood:	n/a	n/a
35	POLR2A	chr20:23112432-23114625	K562	blood:	n/a	n/a
36	TAL1	chr20:23112539-23114684	K562	blood:	n/a	chr20:23114509-23114518 chr20:23114308-23114317
37	MYC	chr20:23113047-23114589	K562	blood:	n/a	n/a
38	JUN	chr20:23113162-23114603	K562	blood:	n/a	n/a
39	JUN	chr20:23113157-23114722	K562	blood:	n/a	n/a
40	JUN	chr20:23113136-23114654	K562	blood:	n/a	n/a
41	CUX1	chr20:23112937-23114506	K562	blood:	n/a	chr20:23114404-23114420
42	UBTF	chr20:23113300-23114645	K562	blood:	n/a	n/a
43	CHD2	chr20:23113034-23114532	K562	blood:	n/a	n/a
44	ZNF384	chr20:23113155-23114506	K562	blood:	n/a	n/a
45	TBL1XR1	chr20:23113283-23114659	K562	blood:	n/a	n/a
46	PML	chr20:23113536-23114094	K562	blood:	n/a	n/a
47	GATA1	chr20:23112288-23114793	K562	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 chr20:23112349-23112366 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23112799-23112806 chr20:23112800-23112817 chr20:23113829-23113841
48	GTF2F1	chr20:23113067-23114419	K562	blood:	n/a	n/a
49	RCOR1	chr20:23112324-23114650	K562	blood:	n/a	n/a
50	POLR2A	chr20:23113436-23114112	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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs844811	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs844820	1.00[AFR][1000 genomes]
rs844882	1.00[AFR][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:35 , 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	chr20:23112400-23114200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:23112400-23114600	Enhancers	Adipose Nuclei	Adipose
11	chr20:23112400-23114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr20:23112400-23114600	Enhancers	Right Atrium	heart
13	chr20:23112400-23114800	Enhancers	Dnd41	blood
14	chr20:23112400-23114800	Enhancers	HUVEC	blood vessel
15	chr20:23112600-23114200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:23112600-23114200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr20:23112600-23114600	Enhancers	Right Ventricle	heart
18	chr20:23112600-23114600	Enhancers	Spleen	Spleen
19	chr20:23112600-23114800	Enhancers	Fetal Muscle Leg	muscle
20	chr20:23112600-23116200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr20:23112600-23120600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:23112800-23114600	Enhancers	Left Ventricle	heart
23	chr20:23112800-23114600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr20:23113000-23114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:23113000-23114600	Enhancers	Fetal Stomach	stomach
26	chr20:23113200-23114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:23113200-23114200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr20:23113200-23114600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr20:23113200-23114600	Enhancers	Fetal Lung	lung
30	chr20:23113600-23114400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr20:23113800-23114400	Enhancers	Fetal Heart	heart
32	chr20:23114000-23114200	Weak transcription	Lung	lung
33	chr20:23114000-23114400	Weak transcription	Psoas Muscle	Psoas
34	chr20:23114000-23114400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr20:23114000-23114600	Enhancers	Placenta Amnion	Placenta Amnion

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