Variant report

Variant	rs74087366
Chromosome Location	chr12:39118022-39118023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11168506	1.00[EUR][1000 genomes]
rs3803019	1.00[AMR][1000 genomes]
rs55845087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56091726	1.00[EUR][1000 genomes]
rs56310820	1.00[EUR][1000 genomes]
rs60539249	1.00[EUR][1000 genomes]
rs61221058	1.00[EUR][1000 genomes]
rs7136317	1.00[EUR][1000 genomes]
rs7307821	1.00[EUR][1000 genomes]
rs73269146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73269173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274761	1.00[EUR][1000 genomes]
rs73274764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085753	1.00[AMR][1000 genomes]
rs74086007	1.00[EUR][1000 genomes]
rs74089410	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers 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
4	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
2	chr12:39092600-39153600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:39110800-39119800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:39111800-39119400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:39112400-39118400	Weak transcription	Fetal Intestine Small	intestine
6	chr12:39113800-39118400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:39113800-39123800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:39114000-39118400	Strong transcription	Liver	Liver
9	chr12:39114200-39133600	Weak transcription	A549	lung
10	chr12:39114400-39124800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:39115800-39121000	Weak transcription	Gastric	stomach
12	chr12:39115800-39121400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:39115800-39121400	Weak transcription	Right Ventricle	heart
14	chr12:39115800-39121400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:39115800-39122400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:39115800-39123400	Weak transcription	Spleen	Spleen
17	chr12:39115800-39124000	Weak transcription	Pancreas	Pancrea
18	chr12:39115800-39164400	Weak transcription	Lung	lung
19	chr12:39116000-39120800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:39116000-39123800	Weak transcription	Ovary	ovary
21	chr12:39116000-39126400	Weak transcription	Left Ventricle	heart
22	chr12:39116000-39154800	Weak transcription	Aorta	Aorta
23	chr12:39116400-39118200	Weak transcription	Esophagus	oesophagus
24	chr12:39116400-39124400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:39116600-39118200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:39117000-39118600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:39117000-39122600	Weak transcription	GM12878-XiMat	blood
28	chr12:39117000-39143200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:39117200-39119800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:39117600-39123600	Weak transcription	Adipose Nuclei	Adipose
31	chr12:39117600-39126800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:39117600-39133600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:39117800-39118400	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:39117800-39118600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:39117800-39118600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:39117800-39121200	Weak transcription	Rectal Mucosa Donor 31	rectum

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