Variant report

Variant	rs61823595
Chromosome Location	chr1:224035464-224035465
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:224035428-224036140	K562	blood:	n/a	n/a
2	POLR2A	chr1:224035377-224036008	K562	blood:	n/a	n/a
3	TBP	chr1:224035398-224035923	K562	blood:	n/a	n/a
4	POLR2A	chr1:224035387-224035881	K562	blood:	n/a	n/a
5	BHLHE40	chr1:224035409-224035916	K562	blood:	n/a	n/a
6	CBX3	chr1:224035376-224036055	K562	blood:	n/a	n/a
7	POLR2A	chr1:224035176-224035649	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA1	chr1:224035349-224036136	PBDE	blood:	n/a	n/a
9	ZC3H11A	chr1:224035418-224035604	K562	blood:	n/a	n/a
10	MAFF	chr1:224035384-224035927	K562	blood:	n/a	n/a
11	TAL1	chr1:224035444-224036057	K562	blood:	n/a	n/a
12	RCOR1	chr1:224035390-224036059	K562	blood:	n/a	n/a
13	POLR2A	chr1:224035151-224035579	K562	blood:	n/a	n/a
14	IRF1	chr1:224035393-224036122	K562	blood:	n/a	n/a
15	JUND	chr1:224035390-224036063	K562	blood:	n/a	n/a
16	TEAD4	chr1:224035228-224036323	K562	blood:	n/a	n/a
17	GATA2	chr1:224035384-224036083	K562	blood:	n/a	n/a
18	TEAD4	chr1:224035411-224036052	K562	blood:	n/a	n/a
19	RCOR1	chr1:224035366-224036030	K562	blood:	n/a	n/a
20	UBTF	chr1:224035378-224035878	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
2	chr1:223945592..223947499-chr1:224033865..224036173,2	MCF-7	breast:
3	chr1:223989156..223991507-chr1:224032637..224036039,3	MCF-7	breast:
4	chr1:224010948..224013248-chr1:224034252..224035836,2	MCF-7	breast:
5	chr1:224031495..224036851-chr1:224037356..224045519,10	MCF-7	breast:
6	chr1:224001116..224004491-chr1:224031166..224035522,4	K562	blood:
7	chr1:224011114..224014049-chr1:224032766..224036091,4	MCF-7	breast:

No data

Variant related genes	Relation type
TP53BP2	TF binding region
ENSG00000162909	Chromatin interaction
ENSG00000143514	Chromatin interaction
ENSG00000227621	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10799327	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915882	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915892	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915917	0.95[EUR][1000 genomes]
rs10915946	0.91[EUR][1000 genomes]
rs10915948	0.91[EUR][1000 genomes]
rs10915950	0.90[EUR][1000 genomes]
rs10915956	0.91[EUR][1000 genomes]
rs1124943	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11801971	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11802505	0.92[EUR][1000 genomes]
rs11806886	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021759	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12021785	0.95[EUR][1000 genomes]
rs12024535	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12026098	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12026835	0.95[EUR][1000 genomes]
rs12027539	0.95[EUR][1000 genomes]
rs12030094	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12038299	0.87[EUR][1000 genomes]
rs12040633	0.89[EUR][1000 genomes]
rs12042503	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12045776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730520	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731254	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12745879	0.88[EUR][1000 genomes]
rs12747926	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17559050	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17559134	0.92[ASN][1000 genomes]
rs17599	0.83[EUR][1000 genomes]
rs2014441	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126389	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2169459	0.93[EUR][1000 genomes]
rs34124959	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35634773	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856161	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653644	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4653645	0.95[EUR][1000 genomes]
rs4653775	0.83[EUR][1000 genomes]
rs56280097	0.91[EUR][1000 genomes]
rs59866505	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61823593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823594	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61824002	0.86[EUR][1000 genomes]
rs61824006	0.81[EUR][1000 genomes]
rs6658752	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6677956	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6678103	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6688246	0.95[EUR][1000 genomes]
rs6693324	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6702843	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs723999	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs745697	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7516059	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7519753	0.95[EUR][1000 genomes]
rs7533614	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7554109	0.95[EUR][1000 genomes]
rs9728094	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224034600-224035600	Enhancers	Left Ventricle	heart
2	chr1:224034600-224038400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224034800-224035600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:224034800-224035600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:224034800-224035600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:224034800-224035600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:224034800-224035600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:224034800-224035600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:224034800-224035600	Enhancers	Dnd41	blood
10	chr1:224034800-224035800	Enhancers	Colon Smooth Muscle	Colon
11	chr1:224034800-224036000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:224034800-224039000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:224034800-224041200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:224035000-224035800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:224035000-224041200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:224035200-224036200	Flanking Active TSS	K562	blood
17	chr1:224035400-224035600	Enhancers	Lung	lung

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