Variant report

Variant	rs61926567
Chromosome Location	chr12:42748565-42748566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61926598	1.00[AFR][1000 genomes]
rs61940200	1.00[AFR][1000 genomes]
rs61940206	1.00[AFR][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:118 , 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	chr12:42721000-42758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:42721600-42748600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:42721600-42750000	Weak transcription	Aorta	Aorta
5	chr12:42721600-42750600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:42721600-42751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
9	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
10	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:42721800-42750200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:42721800-42756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:42721800-42797000	Weak transcription	NHLF	lung
16	chr12:42721800-42803600	Weak transcription	Gastric	stomach
17	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
18	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
21	chr12:42722200-42749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:42722200-42750200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:42722200-42752800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:42722200-42769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:42724400-42755400	Weak transcription	Pancreas	Pancrea
26	chr12:42726200-42749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:42730400-42750000	Weak transcription	Ovary	ovary
28	chr12:42730600-42749800	Weak transcription	Left Ventricle	heart
29	chr12:42730600-42750000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:42730800-42748800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:42730800-42769600	Weak transcription	NH-A	brain
32	chr12:42731000-42757400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:42731000-42768800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:42731200-42754000	Weak transcription	HUVEC	blood vessel
35	chr12:42731400-42769600	Weak transcription	Fetal Lung	lung
36	chr12:42731800-42770400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:42732000-42754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:42732000-42754200	Weak transcription	Lung	lung
39	chr12:42732200-42749200	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:42732200-42749600	Weak transcription	Placenta	Placenta
41	chr12:42732200-42781200	Weak transcription	Fetal Brain Female	brain
42	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:42732400-42763600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:42732400-42769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:42732600-42750000	Weak transcription	Right Ventricle	heart
46	chr12:42733200-42749800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:42733400-42748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:42733600-42748800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:42734400-42749800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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