Variant report

Variant	rs34332442
Chromosome Location	chr19:21768278-21768279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10406824	0.94[ASN][1000 genomes]
rs10406870	0.94[ASN][1000 genomes]
rs12974019	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12982768	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1520073	0.94[ASN][1000 genomes]
rs1533675	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1533676	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2562399	0.94[ASN][1000 genomes]
rs2562473	0.94[ASN][1000 genomes]
rs2681380	0.94[ASN][1000 genomes]
rs2681382	0.94[ASN][1000 genomes]
rs2681383	0.94[ASN][1000 genomes]
rs2681384	0.94[ASN][1000 genomes]
rs35506714	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35595475	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991360	0.94[ASN][1000 genomes]
rs4574048	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56764276	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62108335	0.88[ASN][1000 genomes]
rs62110212	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68016680	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251810	0.97[ASN][1000 genomes]
rs7257322	0.91[ASN][1000 genomes]
rs74167858	0.94[ASN][1000 genomes]
rs74167860	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8103967	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8113074	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs880896	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs939301	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1059328	chr19:21691123-21775948	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv828505	chr19:21749342-21770133	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv543947	chr19:21749857-21772586	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv543948	chr19:21763457-21775948	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv960938	chr19:21766627-21785276	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34332442	RP11-678G14.3	cis	Whole Blood	GTEx
rs34332442	ZNF429	cis	Whole Blood	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
3	chr19:21764800-21769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:21766200-21770600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:21766600-21769200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:21767200-21768800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:21767200-21768800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr19:21767400-21768600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:21767400-21768600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:21767400-21768600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr19:21767400-21768800	Enhancers	Primary T cells from cord blood	blood
12	chr19:21767400-21768800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:21767400-21769000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:21767600-21770800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr19:21767800-21768400	ZNF genes & repeats	Brain Substantia Nigra	brain
16	chr19:21767800-21768600	ZNF genes & repeats	Liver	Liver
17	chr19:21767800-21769000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr19:21767800-21770800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:21767800-21771000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:21768000-21768400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr19:21768000-21768400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr19:21768000-21768400	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr19:21768000-21768400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
24	chr19:21768000-21768600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:21768000-21768600	ZNF genes & repeats	Colonic Mucosa	Colon
26	chr19:21768000-21768600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr19:21768000-21768600	ZNF genes & repeats	Left Ventricle	heart
28	chr19:21768000-21768800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:21768000-21769000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:21768000-21769000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr19:21768000-21770000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
32	chr19:21768000-21770000	ZNF genes & repeats	Esophagus	oesophagus
33	chr19:21768000-21770000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr19:21768000-21770600	Active TSS	Rectal Smooth Muscle	rectum
35	chr19:21768200-21768400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr19:21768200-21768400	Bivalent Enhancer	Colon Smooth Muscle	Colon
37	chr19:21768200-21768400	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr19:21768200-21768600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:21768200-21768600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr19:21768200-21768600	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr19:21768200-21768600	Transcr. at gene 5' and 3'	Pancreas	Pancrea
42	chr19:21768200-21768600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr19:21768200-21768600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
44	chr19:21768200-21769000	Weak transcription	Ovary	ovary
45	chr19:21768200-21769200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:21768200-21770600	Active TSS	Fetal Intestine Large	intestine

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