Variant report

Variant	rs12512313
Chromosome Location	chr4:56899377-56899378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12498836	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506140	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13129724	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13135276	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138432	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34065759	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34558195	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35032869	0.91[AMR][1000 genomes]
rs35189551	0.86[EUR][1000 genomes]
rs35921148	0.88[AMR][1000 genomes]
rs4864566	0.91[AMR][1000 genomes]
rs4865047	0.86[AMR][1000 genomes]
rs56209204	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6856844	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71601613	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9312669	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56835400-56904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:56837200-56905000	Weak transcription	Brain Substantia Nigra	brain
3	chr4:56872200-56904800	Weak transcription	HepG2	liver
4	chr4:56886400-56899600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:56891400-56904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:56891600-56899800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:56891600-56902800	Weak transcription	HSMM	muscle
8	chr4:56891600-56907200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:56891800-56899600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:56891800-56899800	Weak transcription	Fetal Stomach	stomach
11	chr4:56891800-56900800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:56891800-56903800	Weak transcription	NHDF-Ad	bronchial
13	chr4:56891800-56905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:56891800-56907000	Weak transcription	Spleen	Spleen
15	chr4:56891800-56907600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:56893600-56907200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:56893600-56907400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:56893800-56905000	Weak transcription	Placenta	Placenta
19	chr4:56894200-56907000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:56894600-56905000	Weak transcription	Brain Germinal Matrix	brain
21	chr4:56894800-56899800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:56895200-56906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:56895400-56907000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:56895600-56899400	Weak transcription	Liver	Liver
25	chr4:56895600-56901400	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:56895800-56900400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:56896400-56903200	Weak transcription	GM12878-XiMat	blood
28	chr4:56896800-56900600	Weak transcription	NHLF	lung
29	chr4:56897000-56899800	Weak transcription	Adipose Nuclei	Adipose
30	chr4:56897000-56901000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:56897000-56904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:56897000-56907000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:56897200-56899400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:56897200-56899800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:56897200-56900000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:56897200-56900000	Weak transcription	Left Ventricle	heart
37	chr4:56897200-56900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:56897200-56900200	Weak transcription	K562	blood
39	chr4:56897200-56902000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:56897200-56902600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:56897200-56905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:56897400-56899800	Weak transcription	Fetal Intestine Small	intestine
43	chr4:56897400-56903000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:56897400-56905000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:56897600-56899400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:56897600-56900200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr4:56898000-56907000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:56898200-56900000	Weak transcription	Dnd41	blood
49	chr4:56898200-56900000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:56898200-56907200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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