Variant report

Variant	rs57721385
Chromosome Location	chr19:41332809-41332810
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	CEBPB	chr19:41332626-41332867	K562	blood:	n/a	n/a
2	BHLHE40	chr19:41332617-41332833	K562	blood:	n/a	n/a
3	POLR2A	chr19:41332800-41333013	MCF-7	breast:	n/a	n/a
4	CBX3	chr19:41332491-41333023	K562	blood:	n/a	n/a
5	MXI1	chr19:41332680-41332830	K562	blood:	n/a	n/a
6	SUZ12	chr19:41332744-41333258	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr19:41332753-41332811	K562	blood:	n/a	chr19:41332773-41332782
8	MAX	chr19:41332671-41332921	K562	blood:	n/a	chr19:41332806-41332822 chr19:41332773-41332782
9	TAL1	chr19:41332510-41332819	K562	blood:	n/a	n/a
10	NR3C1	chr19:41332448-41333043	A549	lung:	n/a	chr19:41332484-41332497 chr19:41332913-41332939
11	NR3C1	chr19:41332394-41333024	A549	lung:	n/a	chr19:41332484-41332497 chr19:41332913-41332939
12	TBL1XR1	chr19:41332684-41332856	K562	blood:	n/a	n/a
13	NR2F2	chr19:41332409-41332913	K562	blood:	n/a	n/a
14	POLR2A	chr19:41332652-41333005	K562	blood:	n/a	n/a
15	NR2F2	chr19:41332322-41333010	K562	blood:	n/a	n/a
16	MAX	chr19:41332521-41333008	K562	blood:	n/a	chr19:41332806-41332822 chr19:41332773-41332782
17	MAX	chr19:41332668-41332831	K562	blood:	n/a	chr19:41332806-41332822 chr19:41332773-41332782
18	POLR2A	chr19:41332806-41333048	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CYP2F2P	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11667982	0.92[ASN][1000 genomes]
rs11882754	0.82[ASN][1000 genomes]
rs1809811	0.82[ASN][1000 genomes]
rs2002975	0.82[ASN][1000 genomes]
rs2002976	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2259219	0.91[ASN][1000 genomes]
rs2431410	0.82[ASN][1000 genomes]
rs2431412	0.91[ASN][1000 genomes]
rs34945948	0.84[ASN][1000 genomes]
rs4514794	0.82[ASN][1000 genomes]
rs56283800	0.82[ASN][1000 genomes]
rs7249723	0.91[ASN][1000 genomes]
rs7252302	0.84[ASN][1000 genomes]
rs7255443	0.82[ASN][1000 genomes]
rs7256108	0.82[ASN][1000 genomes]
rs8192729	0.82[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	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056244	chr19:41329218-41397661	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1827726	chr19:41329872-41395056	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3349365	chr19:41330612-41335310	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1832156	chr19:41332004-41399077	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
2	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
3	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:41325800-41333000	Weak transcription	Thymus	Thymus
6	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:41328000-41334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:41328400-41333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:41328800-41337400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:41329000-41335400	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:41329200-41333000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:41329200-41333000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:41329200-41334000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:41329200-41335000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:41329200-41337200	Weak transcription	A549	lung
16	chr19:41329400-41333000	Weak transcription	Fetal Heart	heart
17	chr19:41329400-41334200	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:41329800-41334000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr19:41329800-41334200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr19:41330000-41337800	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:41330000-41339800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:41330200-41333600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr19:41330200-41335000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:41330200-41349400	Weak transcription	Right Ventricle	heart
25	chr19:41330400-41337200	Weak transcription	HepG2	liver
26	chr19:41331000-41334000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr19:41331000-41334200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr19:41331000-41335000	Weak transcription	Lung	lung
29	chr19:41331600-41337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:41331600-41339800	Weak transcription	Fetal Lung	lung
31	chr19:41331800-41334400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:41332000-41333200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:41332000-41333400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:41332000-41333800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:41332400-41333000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr19:41332400-41333400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr19:41332600-41333000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:41332600-41333000	Strong transcription	Adipose Nuclei	Adipose
39	chr19:41332600-41333000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr19:41332600-41333000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:41332600-41333000	Enhancers	Fetal Thymus	thymus
42	chr19:41332600-41333000	Transcr. at gene 5' and 3'	Spleen	Spleen
43	chr19:41332600-41333000	Transcr. at gene 5' and 3'	K562	blood
44	chr19:41332600-41333200	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:41332600-41333200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:41332600-41333200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:41332600-41333200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:41332600-41333200	Strong transcription	Gastric	stomach
49	chr19:41332600-41333200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr19:41332600-41333400	Strong transcription	Primary B cells from cord blood	blood

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