Variant report

Variant	rs10849118
Chromosome Location	chr12:4792492-4792493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1009634	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs10128935	0.94[ASN][1000 genomes]
rs1024656	0.94[ASN][1000 genomes]
rs10735037	0.97[ASN][1000 genomes]
rs10735038	0.94[ASN][1000 genomes]
rs11063307	0.87[EUR][1000 genomes]
rs12809178	0.82[CEU][hapmap]
rs12831221	0.82[CEU][hapmap]
rs1548	0.94[ASN][1000 genomes]
rs4147690	0.97[ASN][1000 genomes]
rs4147694	0.90[CHB][hapmap];0.97[ASN][1000 genomes]
rs4766271	0.97[ASN][1000 genomes]
rs4766273	0.82[CEU][hapmap]
rs7310700	0.97[ASN][1000 genomes]
rs7311644	0.93[ASN][1000 genomes]
rs7313982	0.97[ASN][1000 genomes]
rs7977127	0.92[CHB][hapmap];0.97[ASN][1000 genomes]
rs7978162	1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10849118	AKAP3	cis	parietal	SCAN
rs10849118	NTF3	cis	parietal	SCAN
rs10849118	PTPN6	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:4773800-4794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:4778800-4794400	Weak transcription	Small Intestine	intestine
4	chr12:4778800-4796000	Weak transcription	NHEK	skin
5	chr12:4779000-4792600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:4779000-4799000	Weak transcription	Stomach Mucosa	stomach
7	chr12:4779600-4801800	Weak transcription	K562	blood
8	chr12:4780200-4792600	Weak transcription	Fetal Brain Male	brain
9	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
10	chr12:4780400-4792600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:4780600-4799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:4781200-4794800	Weak transcription	NH-A	brain
13	chr12:4781400-4794600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:4782000-4796800	Weak transcription	Fetal Kidney	kidney
15	chr12:4782200-4794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:4782200-4796200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:4782200-4803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:4782400-4796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:4788600-4804400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:4788800-4800800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:4789000-4798200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:4789200-4799600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:4789600-4793400	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:4789600-4799400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:4789600-4800200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:4789600-4800600	Strong transcription	Fetal Brain Female	brain
28	chr12:4790600-4798000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:4791000-4792800	Strong transcription	HUVEC	blood vessel
30	chr12:4791000-4795600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:4791000-4796200	Strong transcription	HMEC	breast
32	chr12:4791000-4797400	Strong transcription	GM12878-XiMat	blood
33	chr12:4791000-4798000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:4791000-4798000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:4791000-4798200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:4791000-4798200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:4791000-4798200	Strong transcription	Placenta	Placenta
38	chr12:4791000-4798400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:4791000-4798400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:4791000-4798400	Strong transcription	Adipose Nuclei	Adipose
41	chr12:4791000-4798400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:4791000-4798600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:4791000-4799400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:4791000-4799600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:4791000-4799600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:4791000-4799600	Strong transcription	Dnd41	blood
47	chr12:4791200-4795400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:4791200-4797600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:4791200-4797600	Strong transcription	HepG2	liver
50	chr12:4791200-4797800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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