Variant report

Variant	rs10513750
Chromosome Location	chr3:177390314-177390315
allele	A/G
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	GATA2	chr3:177390051-177390441	K562	blood:	n/a	chr3:177390233-177390240 chr3:177390231-177390241 chr3:177390231-177390240 chr3:177390233-177390240 chr3:177390233-177390240 chr3:177390226-177390247
2	CEBPD	chr3:177389968-177390506	K562	blood:	n/a	n/a
3	CUX1	chr3:177390028-177390323	K562	blood:	n/a	n/a
4	CCNT2	chr3:177390121-177390597	K562	blood:	n/a	n/a
5	TBL1XR1	chr3:177390132-177390324	K562	blood:	n/a	n/a
6	BHLHE40	chr3:177390263-177390600	K562	blood:	n/a	n/a
7	GATA1	chr3:177389437-177390921	K562	blood:	n/a	chr3:177390451-177390464 chr3:177390233-177390240 chr3:177390647-177390658 chr3:177390231-177390241 chr3:177390231-177390240 chr3:177390233-177390240 chr3:177390233-177390240 chr3:177389511-177389521 chr3:177390226-177390247
8	TAL1	chr3:177390030-177391545	K562	blood:	n/a	chr3:177390650-177390658
9	TEAD4	chr3:177389997-177390642	K562	blood:	n/a	n/a
10	ZMIZ1	chr3:177390199-177390399	K562	blood:	n/a	n/a
11	STAT5A	chr3:177390016-177390453	K562	blood:	n/a	chr3:177390390-177390398
12	NR2F2	chr3:177390090-177390636	K562	blood:	n/a	n/a
13	POLR2A	chr3:177390094-177390315	K562	blood:	n/a	n/a
14	RCOR1	chr3:177390049-177390667	K562	blood:	n/a	n/a
15	EP300	chr3:177390073-177390537	K562	blood:	n/a	chr3:177390345-177390359 chr3:177390339-177390349
16	ARID3A	chr3:177390113-177390416	K562	blood:	n/a	n/a
17	HMGN3	chr3:177390133-177390420	K562	blood:	n/a	n/a
18	PML	chr3:177390009-177390442	K562	blood:	n/a	n/a
19	JUND	chr3:177390090-177390517	K562	blood:	n/a	n/a
20	RCOR1	chr3:177390080-177390316	K562	blood:	n/a	n/a
21	TEAD4	chr3:177389936-177390716	K562	blood:	n/a	n/a

Variant related genes	Relation type
LINC00578	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10513748	0.88[ASN][1000 genomes]
rs10513749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10936953	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs10936954	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12487312	0.83[ASN][1000 genomes]
rs12487458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12489304	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12489969	0.82[ASN][1000 genomes]
rs13059117	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13059514	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs13060224	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13060502	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13071785	0.83[ASN][1000 genomes]
rs13082519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13097723	0.82[ASN][1000 genomes]
rs13340118	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13340167	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13340172	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1499810	0.84[ASN][1000 genomes]
rs1500047	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1604032	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1846628	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2062499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062500	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs28700961	0.81[ASN][1000 genomes]
rs28711160	0.81[ASN][1000 genomes]
rs33964414	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34188001	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34491022	0.83[ASN][1000 genomes]
rs34992356	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35791913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35847814	0.83[ASN][1000 genomes]
rs35868955	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4857725	0.82[ASN][1000 genomes]
rs4857726	0.82[ASN][1000 genomes]
rs56005554	0.82[ASN][1000 genomes]
rs57405296	0.99[ASN][1000 genomes]
rs62283347	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6443481	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6443482	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6765836	0.82[ASN][1000 genomes]
rs6772134	0.81[ASN][1000 genomes]
rs6779492	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6793629	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6793647	0.81[ASN][1000 genomes]
rs6798785	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6803889	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68151580	0.83[ASN][1000 genomes]
rs7610506	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615900	0.85[ASN][1000 genomes]
rs7639373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641099	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7644248	0.81[ASN][1000 genomes]
rs7646117	0.85[ASN][1000 genomes]
rs7652174	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs937507	0.88[ASN][1000 genomes]
rs937561	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752972	chr3:176924298-177425298	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv931055	chr3:177229521-177889872	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv4131	chr3:177366549-177399301	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177383800-177391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:177383800-177397800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:177389000-177392400	Enhancers	K562	blood
4	chr3:177389600-177390400	Weak transcription	Right Atrium	heart
5	chr3:177389800-177391800	Enhancers	Fetal Intestine Large	intestine
6	chr3:177390200-177390600	Enhancers	Liver	Liver
7	chr3:177390200-177391600	Enhancers	NHLF	lung

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