Variant report

Variant	rs61989030
Chromosome Location	chr14:65785785-65785786
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	CTCF	chr14:65785700-65785850	GM12873	blood:	n/a	n/a
2	SPI1	chr14:65784906-65786267	GM12878	blood:	n/a	chr14:65786101-65786114 chr14:65785645-65785654
3	IKZF1	chr14:65784849-65786480	GM12878	blood:	n/a	chr14:65785672-65785680
4	CEBPB	chr14:65785158-65785946	GM12878	blood:	n/a	chr14:65785221-65785229
5	MTA3	chr14:65784450-65786633	GM12878	blood:	n/a	n/a
6	RUNX3	chr14:65784507-65786210	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:65784444-65786340	GM12892	blood:	n/a	n/a
8	NFIC	chr14:65785205-65785949	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:65784539-65786571	GM12878	blood:	n/a	n/a
10	SPI1	chr14:65785350-65785818	GM12878	blood:	n/a	chr14:65785645-65785654
11	ATF2	chr14:65785138-65785843	GM12878	blood:	n/a	n/a
12	ATF2	chr14:65784756-65785924	GM12878	blood:	n/a	n/a
13	SPI1	chr14:65785316-65785862	GM12891	blood:	n/a	chr14:65785645-65785654
14	POLR2A	chr14:65784449-65786800	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:65784484-65785834	GM12892	blood:	n/a	n/a
16	EBF1	chr14:65784687-65785838	GM12878	blood:	n/a	chr14:65785517-65785528
17	RUNX3	chr14:65784479-65786224	GM12878	blood:	n/a	n/a
18	NFATC1	chr14:65784750-65785788	GM12878	blood:	n/a	n/a
19	EP300	chr14:65785389-65785828	GM12878	blood:	n/a	n/a
20	NFATC1	chr14:65784852-65785824	GM12878	blood:	n/a	n/a
21	FOXM1	chr14:65785210-65785839	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:65784161-65785834	GM12892	blood:	n/a	n/a
23	NFIC	chr14:65784556-65786361	GM12878	blood:	n/a	n/a
24	SPI1	chr14:65785330-65785840	GM12891	blood:	n/a	chr14:65785645-65785654
25	STAT5A	chr14:65785141-65785905	GM12878	blood:	n/a	n/a
26	IRF4	chr14:65785186-65785828	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:65784545-65786608	GM12891	blood:	n/a	n/a
28	BCLAF1	chr14:65784777-65786367	GM12878	blood:	n/a	n/a
29	MEF2A	chr14:65785266-65785830	GM12878	blood:	n/a	n/a
30	MTA3	chr14:65784541-65785822	GM12878	blood:	n/a	n/a
31	FOXM1	chr14:65784537-65785871	GM12878	blood:	n/a	n/a
32	PML	chr14:65784431-65786016	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258760	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10135541	1.00[ASN][1000 genomes]
rs10498517	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11844089	1.00[ASN][1000 genomes]
rs11844728	1.00[ASN][1000 genomes]
rs11846860	1.00[ASN][1000 genomes]
rs11852179	1.00[ASN][1000 genomes]
rs1270537	1.00[ASN][1000 genomes]
rs1272725	1.00[ASN][1000 genomes]
rs17102714	1.00[ASN][1000 genomes]
rs2151756	1.00[ASN][1000 genomes]
rs2153482	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4902378	1.00[ASN][1000 genomes]
rs4902379	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902380	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902381	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902382	0.82[AMR][1000 genomes]
rs4902384	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55714222	1.00[ASN][1000 genomes]
rs55759426	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780087	1.00[ASN][1000 genomes]
rs55865853	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888656	1.00[ASN][1000 genomes]
rs55911819	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55917158	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55948453	1.00[ASN][1000 genomes]
rs56030127	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152095	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56158541	1.00[ASN][1000 genomes]
rs56348725	1.00[ASN][1000 genomes]
rs56682283	1.00[ASN][1000 genomes]
rs61987805	1.00[ASN][1000 genomes]
rs61987837	1.00[ASN][1000 genomes]
rs61987838	1.00[ASN][1000 genomes]
rs61987841	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987844	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987845	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987846	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987847	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987851	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987852	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987853	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987854	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987855	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987856	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987857	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987858	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987859	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988960	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988961	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988962	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988963	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61988964	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61988965	0.91[AMR][1000 genomes]
rs61988967	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988970	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989027	1.00[ASN][1000 genomes]
rs61989029	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61989032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989036	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989057	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989059	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989961	1.00[ASN][1000 genomes]
rs61989962	1.00[ASN][1000 genomes]
rs61989963	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989964	1.00[ASN][1000 genomes]
rs61989969	1.00[ASN][1000 genomes]
rs61989970	1.00[ASN][1000 genomes]
rs61989971	1.00[ASN][1000 genomes]
rs61989973	1.00[ASN][1000 genomes]
rs61989974	1.00[ASN][1000 genomes]
rs61989975	1.00[ASN][1000 genomes]
rs61989977	1.00[ASN][1000 genomes]
rs61989993	1.00[ASN][1000 genomes]
rs61989998	1.00[ASN][1000 genomes]
rs61990000	1.00[ASN][1000 genomes]
rs61990023	1.00[ASN][1000 genomes]
rs61990026	1.00[ASN][1000 genomes]
rs6573606	1.00[ASN][1000 genomes]
rs7143112	1.00[ASN][1000 genomes]
rs7147344	1.00[ASN][1000 genomes]
rs7150782	1.00[ASN][1000 genomes]
rs7152470	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7156029	1.00[ASN][1000 genomes]
rs7159582	1.00[ASN][1000 genomes]
rs7161058	1.00[ASN][1000 genomes]
rs746835	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747540	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8004070	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8004507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005892	1.00[ASN][1000 genomes]
rs8013585	1.00[ASN][1000 genomes]
rs8018695	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65772400-65787800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:65779400-65787800	Weak transcription	Fetal Intestine Large	intestine
3	chr14:65781400-65786200	Weak transcription	Stomach Mucosa	stomach
4	chr14:65781600-65787600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:65784000-65786000	Weak transcription	Small Intestine	intestine
6	chr14:65784200-65786800	Weak transcription	Fetal Intestine Small	intestine
7	chr14:65784200-65787400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:65784600-65786400	Flanking Active TSS	GM12878-XiMat	blood
9	chr14:65784800-65785800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr14:65784800-65786200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:65784800-65786600	Enhancers	Primary T cells from cord blood	blood
12	chr14:65785000-65786600	Weak transcription	Thymus	Thymus
13	chr14:65785200-65786200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:65785400-65787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:65785400-65787800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:65785600-65787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:65785600-65787800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:65785600-65788000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:65785600-65788000	Weak transcription	Fetal Thymus	thymus
20	chr14:65785600-65788800	Enhancers	Primary B cells from cord blood	blood
21	chr14:65785600-65791000	Enhancers	Primary B cells from peripheral blood	blood

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