Variant report

Variant	rs1975056
Chromosome Location	chr19:21323932-21323933
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	RFX5	chr19:21323864-21325633	SK-N-SH	brain:	n/a	chr19:21324754-21324763
2	RCOR1	chr19:21323698-21324142	K562	blood:	n/a	n/a
3	TEAD4	chr19:21323722-21324191	K562	blood:	n/a	n/a
4	POLR2A	chr19:21323867-21324161	K562	blood:	n/a	n/a
5	HDAC2	chr19:21323891-21324135	K562	blood:	n/a	n/a
6	TEAD4	chr19:21323665-21324207	K562	blood:	n/a	n/a
7	EP300	chr19:21323810-21324117	K562	blood:	n/a	n/a
8	NR2F2	chr19:21323584-21324276	K562	blood:	n/a	n/a
9	ZMIZ1	chr19:21323907-21324073	K562	blood:	n/a	n/a
10	NR2F2	chr19:21323643-21324203	K562	blood:	n/a	n/a
11	TAL1	chr19:21323622-21324203	K562	blood:	n/a	n/a
12	GATA2	chr19:21323678-21324217	K562	blood:	n/a	chr19:21323831-21323842 chr19:21324029-21324042
13	POLR2A	chr19:21323885-21324120	K562	blood:	n/a	n/a
14	STAT5A	chr19:21323728-21324203	K562	blood:	n/a	n/a
15	ATF1	chr19:21323783-21324152	K562	blood:	n/a	n/a
16	TBL1XR1	chr19:21323774-21324173	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF431	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10401931	0.83[CEU][hapmap]
rs10406253	0.94[ASN][1000 genomes]
rs10407190	0.94[ASN][1000 genomes]
rs10408496	0.91[ASN][1000 genomes]
rs10409844	0.83[CEU][hapmap]
rs10854042	0.96[ASN][1000 genomes]
rs11085429	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11085431	0.83[CEU][hapmap]
rs11668640	0.93[ASN][1000 genomes]
rs12052091	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12979034	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs12980860	0.93[ASN][1000 genomes]
rs1864208	0.96[ASN][1000 genomes]
rs1968523	0.83[CEU][hapmap]
rs2115498	0.90[ASN][1000 genomes]
rs2358806	0.94[ASN][1000 genomes]
rs2358807	0.90[ASN][1000 genomes]
rs2884554	0.83[CEU][hapmap]
rs2884555	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4324267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511188	0.83[CEU][hapmap]
rs6511191	0.83[CEU][hapmap]
rs6511202	0.96[ASN][1000 genomes]
rs6511204	0.91[ASN][1000 genomes]
rs6511205	0.93[ASN][1000 genomes]
rs7249283	0.83[CEU][hapmap]
rs7249736	0.83[CEU][hapmap]
rs7250987	0.96[ASN][1000 genomes]
rs7251158	0.94[ASN][1000 genomes]
rs7251646	0.94[ASN][1000 genomes]
rs7256576	0.94[ASN][1000 genomes]
rs7260600	0.83[CEU][hapmap]
rs8101918	0.93[ASN][1000 genomes]
rs8107638	0.83[CEU][hapmap]
rs8110848	0.84[ASN][1000 genomes]
rs8112216	0.83[CEU][hapmap]
rs8113541	0.83[CEU][hapmap]
rs9304980	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr19:21320400-21324600	Weak transcription	Thymus	Thymus
2	chr19:21321800-21324600	Weak transcription	Fetal Intestine Large	intestine
3	chr19:21322000-21324000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr19:21322000-21324000	Weak transcription	HepG2	liver
5	chr19:21322000-21324600	Weak transcription	Fetal Intestine Small	intestine
6	chr19:21322800-21324000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr19:21323200-21324200	Enhancers	K562	blood
8	chr19:21323200-21324400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr19:21323600-21324400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:21323800-21324400	Enhancers	Dnd41	blood

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