Variant report

Variant	rs192303421
Chromosome Location	chr1:158656674-158656675
allele	A/C
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	EP300	chr1:158655900-158656836	GM12878	blood:	n/a	n/a
2	IRF1	chr1:158655563-158657227	K562	blood:	n/a	chr1:158657050-158657060 chr1:158657049-158657063 chr1:158657049-158657061 chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158657050-158657064 chr1:158657050-158657061 chr1:158657048-158657061 chr1:158656598-158656609 chr1:158657048-158657061
3	TEAD4	chr1:158656216-158656714	K562	blood:	n/a	n/a
4	ARID3A	chr1:158656270-158657331	K562	blood:	n/a	n/a
5	TRIM28	chr1:158656223-158656734	K562	blood:	n/a	n/a
6	ZMIZ1	chr1:158656319-158656723	K562	blood:	n/a	n/a
7	TBL1XR1	chr1:158655731-158657204	K562	blood:	n/a	n/a
8	MAFK	chr1:158656389-158656680	HepG2	liver:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
9	MAFF	chr1:158656373-158656688	HepG2	liver:	n/a	chr1:158656542-158656560
10	POLR2A	chr1:158656258-158656727	K562	blood:	n/a	n/a
11	POLR2A	chr1:158655573-158657125	PBDE	blood:	n/a	n/a
12	TAL1	chr1:158656111-158656730	K562	blood:	n/a	n/a
13	ATF1	chr1:158656332-158656676	K562	blood:	n/a	n/a
14	CEBPB	chr1:158656117-158657013	K562	blood:	n/a	n/a
15	CEBPD	chr1:158656260-158656754	K562	blood:	n/a	n/a
16	TBP	chr1:158655926-158656705	K562	blood:	n/a	n/a
17	CCNT2	chr1:158656386-158656746	K562	blood:	n/a	n/a
18	EP300	chr1:158656203-158656703	K562	blood:	n/a	n/a
19	CEBPD	chr1:158656224-158656767	K562	blood:	n/a	n/a
20	MAFF	chr1:158656296-158656839	K562	blood:	n/a	chr1:158656542-158656560
21	GATA1	chr1:158655836-158657462	PBDE	blood:	n/a	n/a
22	MAFK	chr1:158655841-158656761	K562	blood:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
23	ATF3	chr1:158656295-158656679	K562	blood:	n/a	n/a
24	CEBPB	chr1:158656281-158656794	K562	blood:	n/a	n/a
25	POLR2A	chr1:158656371-158656684	K562	blood:	n/a	n/a
26	MAFK	chr1:158656420-158656706	H1-hESC	embryonic stem cell:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
27	EP300	chr1:158655784-158657475	K562	blood:	n/a	chr1:158657234-158657248
28	RCOR1	chr1:158656013-158656737	K562	blood:	n/a	n/a
29	CUX1	chr1:158655832-158656814	K562	blood:	n/a	n/a
30	MAFK	chr1:158656360-158656723	IMR90	lung:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
31	GATA2	chr1:158656243-158656695	K562	blood:	n/a	n/a
32	IRF1	chr1:158656326-158656737	K562	blood:	n/a	chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158656598-158656609
33	TEAD4	chr1:158656257-158656749	K562	blood:	n/a	n/a
34	NFE2	chr1:158656365-158656729	K562	blood:	n/a	chr1:158656543-158656558 chr1:158656544-158656554 chr1:158656544-158656553 chr1:158656545-158656555
35	JUN	chr1:158656221-158656790	K562	blood:	n/a	chr1:158656543-158656553 chr1:158656573-158656585 chr1:158656543-158656553 chr1:158656544-158656552 chr1:158656543-158656553 chr1:158656542-158656554
36	ZNF384	chr1:158656092-158656699	K562	blood:	n/a	n/a
37	JUND	chr1:158656274-158656751	K562	blood:	n/a	chr1:158656543-158656553 chr1:158656573-158656585 chr1:158656543-158656553 chr1:158656544-158656552 chr1:158656543-158656553 chr1:158656542-158656554
38	MAFK	chr1:158656370-158656726	HepG2	liver:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
39	BACH1	chr1:158655817-158657137	K562	blood:	n/a	n/a
40	IRF1	chr1:158654489-158657481	K562	blood:	n/a	chr1:158657050-158657060 chr1:158657049-158657063 chr1:158657049-158657061 chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158657050-158657064 chr1:158654494-158654506 chr1:158657050-158657061 chr1:158657048-158657061 chr1:158656598-158656609 chr1:158657048-158657061

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158656464..158659384-chr1:159045094..159048407,3	K562	blood:

Variant related genes	Relation type
SPTA1	TF binding region
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv872481	chr1:158625789-158712510	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv872482	chr1:158635852-158698532	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv872483	chr1:158635852-158712510	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3411330	chr1:158656386-158656691	Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158655200-158657000	Active TSS	K562	blood
2	chr1:158655800-158657000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:158656000-158656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:158656200-158656800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:158656200-158657000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:158656400-158657200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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