Variant report

Variant	rs7970109
Chromosome Location	chr12:42782565-42782566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10880274	0.92[YRI][hapmap]
rs10880276	0.91[YRI][hapmap]
rs10880286	1.00[YRI][hapmap]
rs3810788	1.00[YRI][hapmap]
rs56655832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61926595	0.83[AFR][1000 genomes]
rs74078017	0.86[AFR][1000 genomes]
rs74078043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977710	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][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	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
3	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42721800-42797000	Weak transcription	NHLF	lung
5	chr12:42721800-42803600	Weak transcription	Gastric	stomach
6	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
7	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:42738000-42787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:42759400-42783200	Weak transcription	A549	lung
12	chr12:42763800-42804200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:42766200-42796800	Weak transcription	Aorta	Aorta
14	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
15	chr12:42769800-42794200	Weak transcription	Left Ventricle	heart
16	chr12:42770000-42794000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:42770200-42783400	Weak transcription	NHDF-Ad	bronchial
18	chr12:42770200-42786600	Weak transcription	HSMM	muscle
19	chr12:42770200-42815800	Weak transcription	Fetal Lung	lung
20	chr12:42770400-42790400	Weak transcription	HUVEC	blood vessel
21	chr12:42770400-42795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:42770400-42816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:42770600-42787200	Weak transcription	GM12878-XiMat	blood
24	chr12:42771000-42792600	Weak transcription	HepG2	liver
25	chr12:42771000-42795000	Weak transcription	HSMMtube	muscle
26	chr12:42771000-42796800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:42771000-42799000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:42771200-42794400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:42771200-42801000	Weak transcription	NH-A	brain
30	chr12:42771400-42783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:42771600-42783800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:42771600-42793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:42771800-42803000	Weak transcription	Brain Anterior Caudate	brain
34	chr12:42775800-42790200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:42776000-42783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:42776000-42792000	Weak transcription	HMEC	breast
37	chr12:42776200-42795400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:42776400-42787400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:42776400-42789400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:42776600-42783600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:42777000-42802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:42778000-42798200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:42778200-42785200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:42778200-42788600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:42778400-42785200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:42778400-42786000	Strong transcription	Fetal Thymus	thymus
47	chr12:42778400-42789800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:42778800-42785200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:42779000-42798400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:42779400-42789000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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