Variant report

Variant	rs4324267
Chromosome Location	chr19:21324349-21324350
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	RFX5	chr19:21323864-21325633	SK-N-SH	brain:	n/a	chr19:21324754-21324763
2	PBX3	chr19:21324347-21325076	SK-N-SH	brain:	n/a	chr19:21324715-21324724 chr19:21324672-21324681
3	IRF1	chr19:21324332-21325189	K562	blood:	n/a	n/a
4	MXI1	chr19:21324329-21326110	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ZNF431	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10406253	0.90[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs10407190	0.94[ASN][1000 genomes]
rs10408496	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.91[ASN][1000 genomes]
rs10854042	0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs11668640	0.93[ASN][1000 genomes]
rs12608652	0.82[JPT][hapmap]
rs12980860	0.93[ASN][1000 genomes]
rs1864208	0.96[ASN][1000 genomes]
rs1975056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2115498	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs2358806	0.94[ASN][1000 genomes]
rs2358807	0.90[ASN][1000 genomes]
rs2884555	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6511202	0.90[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs6511204	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs6511205	0.91[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs6511206	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs7250987	0.90[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs7251158	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs7251646	0.91[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs7254094	0.82[JPT][hapmap]
rs7256576	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs7258575	0.82[JPT][hapmap]
rs8101918	0.91[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs8110848	0.84[ASN][1000 genomes]

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:23 , 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	chr19:21322000-21324600	Weak transcription	Fetal Intestine Small	intestine
4	chr19:21323200-21324400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr19:21323600-21324400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:21323800-21324400	Enhancers	Dnd41	blood
7	chr19:21324000-21324400	Active TSS	Primary B cells from cord blood	blood
8	chr19:21324000-21324400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr19:21324000-21324400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr19:21324000-21324400	Enhancers	Brain Anterior Caudate	brain
11	chr19:21324000-21324400	Enhancers	Brain Cingulate Gyrus	brain
12	chr19:21324000-21324400	Enhancers	Brain Substantia Nigra	brain
13	chr19:21324000-21324400	Enhancers	HepG2	liver
14	chr19:21324000-21324400	Enhancers	HSMM	muscle
15	chr19:21324000-21324600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:21324000-21324600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:21324000-21324600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr19:21324000-21324600	Enhancers	Fetal Muscle Leg	muscle
19	chr19:21324000-21325200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:21324000-21325600	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:21324200-21324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:21324200-21324400	Flanking Active TSS	K562	blood
23	chr19:21324200-21324600	Enhancers	Primary T cells from cord blood	blood

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