Variant report

Variant	rs12459850
Chromosome Location	chr19:56728449-56728450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12973406	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv828646	chr19:56701465-56736526	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv828647	chr19:56701488-56758401	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3345953	chr19:56702268-56734127	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1058152	chr19:56703368-56805035	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv544093	chr19:56703368-56805035	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1065286	chr19:56709253-56741015	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1058119	chr19:56709253-56744629	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3528005	chr19:56712029-56750105	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	5 gene(s)	inside rSNPs	diseases
12	esv3528006	chr19:56712029-56750105	Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv7336	chr19:56712118-56750459	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv3365117	chr19:56718267-56756501	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv960878	chr19:56720855-56730391	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
16	nsv580355	chr19:56723492-56752892	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv580356	chr19:56723492-56762780	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3330994	chr19:56725587-56743074	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3384748	chr19:56727320-56744483	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56727600-56735800	Weak transcription	A549	lung
2	chr19:56727800-56729000	Enhancers	Dnd41	blood
3	chr19:56728000-56728800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56728000-56729400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:56728200-56728600	Bivalent Enhancer	Thymus	Thymus
6	chr19:56728200-56728800	Bivalent Enhancer	Placenta	Placenta
7	chr19:56728200-56728800	Bivalent Enhancer	Fetal Thymus	thymus
8	chr19:56728200-56729200	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr19:56728200-56729400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:56728200-56729400	Enhancers	Fetal Heart	heart
11	chr19:56728400-56728600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr19:56728400-56728600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:56728400-56728600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:56728400-56728600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr19:56728400-56728600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:56728400-56728600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:56728400-56728600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:56728400-56728600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:56728400-56728600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr19:56728400-56728600	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr19:56728400-56728600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr19:56728400-56728600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
23	chr19:56728400-56728600	Flanking Active TSS	Esophagus	oesophagus
24	chr19:56728400-56728600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr19:56728400-56728600	Bivalent Enhancer	Fetal Brain Female	brain
26	chr19:56728400-56728600	Flanking Active TSS	Fetal Lung	lung
27	chr19:56728400-56728600	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr19:56728400-56728600	Bivalent Enhancer	Fetal Stomach	stomach
29	chr19:56728400-56728600	Enhancers	Left Ventricle	heart
30	chr19:56728400-56728600	Enhancers	Pancreas	Pancrea
31	chr19:56728400-56728600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr19:56728400-56728600	Active TSS	Right Ventricle	heart
33	chr19:56728400-56728600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr19:56728400-56728600	Bivalent/Poised TSS	Stomach Mucosa	stomach
35	chr19:56728400-56728600	Enhancers	GM12878-XiMat	blood
36	chr19:56728400-56728600	Enhancers	K562	blood
37	chr19:56728400-56728800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr19:56728400-56728800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr19:56728400-56728800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr19:56728400-56728800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:56728400-56728800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:56728400-56728800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:56728400-56728800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:56728400-56728800	Active TSS	Colonic Mucosa	Colon
45	chr19:56728400-56728800	Active TSS	Fetal Kidney	kidney
46	chr19:56728400-56728800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
47	chr19:56728400-56728800	Active TSS	HSMMtube	muscle
48	chr19:56728400-56728800	Flanking Active TSS	HUVEC	blood vessel
49	chr19:56728400-56729000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr19:56728400-56729000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links