Variant report

Variant	rs7299386
Chromosome Location	chr12:42776960-42776961
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11829039	1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11830386	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11831464	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11832196	1.00[EUR][1000 genomes]
rs11832840	1.00[EUR][1000 genomes]
rs11833011	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs11833109	1.00[EUR][1000 genomes]
rs11833381	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11834665	1.00[EUR][1000 genomes]
rs11837839	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs2406968	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57490344	1.00[EUR][1000 genomes]
rs57647260	1.00[EUR][1000 genomes]
rs57955254	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59190545	1.00[EUR][1000 genomes]
rs59577937	1.00[EUR][1000 genomes]
rs59645146	1.00[EUR][1000 genomes]
rs60314019	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60982601	1.00[EUR][1000 genomes]
rs61067658	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73270269	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73270275	1.00[EUR][1000 genomes]
rs73270279	1.00[EUR][1000 genomes]
rs73270293	1.00[EUR][1000 genomes]
rs73272004	1.00[EUR][1000 genomes]
rs73272008	1.00[EUR][1000 genomes]
rs73272013	1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272050	1.00[EUR][1000 genomes]
rs73272072	1.00[EUR][1000 genomes]
rs73272073	1.00[EUR][1000 genomes]
rs73272080	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73272091	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73272101	1.00[EUR][1000 genomes]
rs73273911	1.00[EUR][1000 genomes]
rs73273932	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73273975	1.00[EUR][1000 genomes]
rs73277820	1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs73283792	1.00[EUR][1000 genomes]
rs73283799	1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[EUR][1000 genomes]
rs73285621	1.00[EUR][1000 genomes]
rs73285641	1.00[EUR][1000 genomes]
rs73285662	1.00[EUR][1000 genomes]
rs73285670	1.00[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	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription 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 miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
3	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
4	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:42721800-42797000	Weak transcription	NHLF	lung
6	chr12:42721800-42803600	Weak transcription	Gastric	stomach
7	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
8	chr12:42732200-42781200	Weak transcription	Fetal Brain Female	brain
9	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:42738000-42787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:42746000-42778400	Weak transcription	Fetal Brain Male	brain
14	chr12:42759000-42780000	Weak transcription	Stomach Mucosa	stomach
15	chr12:42759400-42783200	Weak transcription	A549	lung
16	chr12:42759600-42778400	Weak transcription	K562	blood
17	chr12:42761000-42779000	Weak transcription	Fetal Heart	heart
18	chr12:42761200-42782200	Weak transcription	Lung	lung
19	chr12:42761800-42778400	Weak transcription	Brain Germinal Matrix	brain
20	chr12:42762800-42778600	Weak transcription	Right Ventricle	heart
21	chr12:42763400-42778400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:42763800-42778400	Weak transcription	NHEK	skin
23	chr12:42763800-42804200	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:42764200-42778600	Weak transcription	Pancreas	Pancrea
25	chr12:42766200-42796800	Weak transcription	Aorta	Aorta
26	chr12:42766600-42781600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
28	chr12:42769800-42794200	Weak transcription	Left Ventricle	heart
29	chr12:42770000-42779800	Weak transcription	Ovary	ovary
30	chr12:42770000-42794000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:42770200-42783400	Weak transcription	NHDF-Ad	bronchial
32	chr12:42770200-42786600	Weak transcription	HSMM	muscle
33	chr12:42770200-42815800	Weak transcription	Fetal Lung	lung
34	chr12:42770400-42781400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:42770400-42790400	Weak transcription	HUVEC	blood vessel
36	chr12:42770400-42795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:42770400-42816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:42770600-42778600	Weak transcription	Thymus	Thymus
39	chr12:42770600-42780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:42770600-42780000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:42770600-42787200	Weak transcription	GM12878-XiMat	blood
42	chr12:42770800-42782000	Weak transcription	Placenta	Placenta
43	chr12:42771000-42778600	Weak transcription	Dnd41	blood
44	chr12:42771000-42779000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:42771000-42781400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:42771000-42781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:42771000-42781800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:42771000-42781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:42771000-42781800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:42771000-42782400	Weak transcription	Fetal Stomach	stomach

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