Variant report

Variant	rs11112318
Chromosome Location	chr12:105425358-105425359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105422872..105425627-chr12:105434341..105436851,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	1.00[ASN][1000 genomes]
rs11112291	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112293	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112294	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112315	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112316	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112333	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112381	1.00[ASN][1000 genomes]
rs11112389	1.00[ASN][1000 genomes]
rs11495192	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829598	1.00[ASN][1000 genomes]
rs12307372	1.00[ASN][1000 genomes]
rs12369202	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369490	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372369	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372454	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	1.00[ASN][1000 genomes]
rs17036595	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036608	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801070	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs4964316	1.00[YRI][hapmap]
rs55679730	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916348	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284118	1.00[ASN][1000 genomes]
rs56862143	1.00[ASN][1000 genomes]
rs60835294	1.00[ASN][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7136453	1.00[ASN][1000 genomes]
rs7138574	1.00[ASN][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7310860	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	1.00[ASN][1000 genomes]
rs7315964	1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	1.00[ASN][1000 genomes]
rs73179996	1.00[ASN][1000 genomes]
rs73179998	1.00[ASN][1000 genomes]
rs73180001	1.00[ASN][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193611	0.90[EUR][1000 genomes]
rs73193619	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193626	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193630	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193631	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964184	1.00[ASN][1000 genomes]
rs7966109	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	1.00[ASN][1000 genomes]
rs7978034	1.00[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong 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	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
2	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:105407800-105426000	Weak transcription	Fetal Intestine Small	intestine
6	chr12:105407800-105430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:105407800-105434400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:105408000-105434400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:105408000-105434400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:105409200-105446800	Weak transcription	Left Ventricle	heart
11	chr12:105409400-105428800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:105409600-105427800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:105410800-105430600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:105410800-105446400	Weak transcription	K562	blood
16	chr12:105412400-105440400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:105413000-105426600	Weak transcription	NHEK	skin
18	chr12:105413000-105441800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:105413000-105445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:105413200-105430600	Weak transcription	Primary T cells from cord blood	blood
22	chr12:105413200-105457800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:105413400-105430800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:105414800-105447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:105414800-105454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:105415000-105440400	Weak transcription	Gastric	stomach
27	chr12:105418600-105426800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:105418600-105441000	Weak transcription	Pancreas	Pancrea
29	chr12:105419400-105434400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:105419800-105426600	Weak transcription	Aorta	Aorta
31	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:105420200-105429400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:105420200-105441000	Weak transcription	Fetal Brain Male	brain
34	chr12:105420400-105434600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:105420400-105435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:105420400-105440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:105420400-105448600	Weak transcription	Ovary	ovary
38	chr12:105420600-105435200	Strong transcription	Osteobl	bone
39	chr12:105420600-105442000	Weak transcription	Fetal Lung	lung
40	chr12:105420600-105442000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:105420600-105447000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:105420800-105434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:105420800-105442000	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:105421400-105427400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:105421400-105432600	Strong transcription	HSMMtube	muscle
46	chr12:105421400-105433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:105421600-105428400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:105422400-105425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:105422600-105430400	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:105422600-105442800	Weak transcription	Stomach Smooth Muscle	stomach

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