Variant report

Variant	rs34358898
Chromosome Location	chr2:189145994-189145995
allele	C/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	TCF12	chr2:189145292-189146217	A549	lung:	n/a	n/a
2	FOXA2	chr2:189145442-189146051	A549	lung:	n/a	chr2:189145708-189145720
3	EP300	chr2:189145268-189146149	A549	lung:	n/a	n/a
4	FOSL2	chr2:189145383-189146001	A549	lung:	n/a	n/a
5	GATA3	chr2:189145281-189146170	A549	lung:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145379-189145388 chr2:189145856-189145863 chr2:189145856-189145863
6	SP1	chr2:189145334-189146092	A549	lung:	n/a	n/a
7	GATA3	chr2:189145385-189146042	MCF-7	breast:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863
8	FOXA2	chr2:189145454-189146151	A549	lung:	n/a	chr2:189145708-189145720
9	CEBPB	chr2:189145408-189146055	A549	lung:	n/a	n/a
10	EP300	chr2:189145387-189146087	A549	lung:	n/a	n/a
11	REST	chr2:189145380-189146039	A549	lung:	n/a	n/a
12	GATA3	chr2:189145471-189146074	MCF-7	breast:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863
13	TEAD4	chr2:189145531-189146044	A549	lung:	n/a	n/a
14	SIN3AK20	chr2:189145390-189146017	MCF-7	breast:	n/a	n/a
15	GATA3	chr2:189145427-189146133	A549	lung:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863
16	BCL3	chr2:189145347-189146130	A549	lung:	n/a	n/a
17	GATA3	chr2:189145380-189146217	MCF-7	breast:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863

No.	Distal block	Cell Line	Cell type
1	chr2:189145849..189147932-chr2:189157783..189159362,2	MCF-7	breast:
2	chr2:189136024..189140012-chr2:189145051..189148028,3	K562	blood:
3	chr2:189142080..189146358-chr2:189153937..189158201,5	K562	blood:
4	chr2:189136024..189138815-chr2:189144719..189147357,4	K562	blood:
5	chr2:189127077..189128792-chr2:189145398..189147368,2	K562	blood:
6	chr2:189125887..189128792-chr2:189144511..189146898,3	K562	blood:
7	chr2:189144338..189148147-chr2:189152905..189159423,7	MCF-7	breast:

Variant related genes	Relation type
RNA5SP114	TF binding region
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10168305	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175838	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179504	0.83[EUR][1000 genomes]
rs10179836	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179899	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10180000	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10184703	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10187646	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10187791	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10189197	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10189416	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10195059	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10199261	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10204144	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10209424	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10469734	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10469735	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931333	0.82[EUR][1000 genomes]
rs12693490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693491	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693492	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693493	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693494	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693495	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693497	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987018	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987553	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12995107	0.82[EUR][1000 genomes]
rs12995727	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13000379	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13003679	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13003972	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007721	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13021294	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027220	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13029662	0.82[EUR][1000 genomes]
rs13032231	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13382200	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13385282	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13390401	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13390524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13394232	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13394422	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13403228	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13404958	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13413164	0.93[ASN][1000 genomes]
rs13429075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2004888	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28572636	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34000922	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34066981	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34135749	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34140900	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34142137	0.82[EUR][1000 genomes]
rs34253555	0.81[AMR][1000 genomes]
rs34353529	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34395949	0.80[EUR][1000 genomes]
rs34484855	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34555222	0.82[EUR][1000 genomes]
rs34557812	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34575499	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34583514	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34762706	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34762794	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35015018	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35060323	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35196443	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35325130	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35355034	0.82[EUR][1000 genomes]
rs35442646	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35536225	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35699394	0.80[EUR][1000 genomes]
rs35877064	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36174757	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3889818	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3924673	0.89[EUR][1000 genomes]
rs4128404	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4433962	0.83[EUR][1000 genomes]
rs4535011	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666757	0.82[EUR][1000 genomes]
rs4667219	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667220	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4992742	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4992743	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55852512	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434277	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66948063	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66993342	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6718697	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720002	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720983	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67344766	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67389016	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748077	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67621133	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67804812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72901602	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72909512	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72909520	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72911423	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7571197	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571494	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7579554	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593232	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9288152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288153	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9808523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9808557	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189144000-189155400	Weak transcription	Aorta	Aorta
3	chr2:189144200-189156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:189144400-189147800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189145000-189154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:189145000-189155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:189145200-189146200	Enhancers	A549	lung
8	chr2:189145600-189146000	Enhancers	Stomach Mucosa	stomach
9	chr2:189145800-189147400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:189145800-189149200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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