Variant report

Variant	rs60985117
Chromosome Location	chr12:26139946-26139947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11833040	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55698850	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56318236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60389306	0.83[AMR][1000 genomes]
rs74071337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072277	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
3	chr12:26131000-26145400	Weak transcription	Lung	lung
4	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:26131000-26146200	Weak transcription	HSMM	muscle
6	chr12:26132400-26141600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:26133000-26144600	Weak transcription	HMEC	breast
10	chr12:26133000-26144600	Weak transcription	NHEK	skin
11	chr12:26133000-26145200	Weak transcription	NH-A	brain
12	chr12:26133000-26145200	Weak transcription	Osteobl	bone
13	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:26134400-26141600	Weak transcription	NHDF-Ad	bronchial
15	chr12:26134400-26145400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:26134400-26145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:26136000-26141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:26136800-26142000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:26137200-26140200	Enhancers	Ovary	ovary
21	chr12:26137200-26140200	Enhancers	Psoas Muscle	Psoas
22	chr12:26137200-26143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:26138000-26140400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:26138000-26140400	Enhancers	Fetal Intestine Large	intestine
25	chr12:26138000-26140400	Enhancers	Fetal Intestine Small	intestine
26	chr12:26138200-26140400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:26138400-26141200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:26138400-26141200	Weak transcription	Fetal Lung	lung
29	chr12:26138400-26146800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:26138600-26140000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:26138800-26140400	Enhancers	Fetal Heart	heart
32	chr12:26138800-26141200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:26138800-26141400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:26138800-26141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:26138800-26145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:26139000-26140400	Enhancers	Right Atrium	heart
37	chr12:26139200-26145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:26139200-26147400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:26139400-26140000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:26139400-26140200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:26139400-26140200	Enhancers	Aorta	Aorta
42	chr12:26139400-26140200	Enhancers	Right Ventricle	heart
43	chr12:26139400-26141400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:26139400-26141600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:26139400-26141600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:26139400-26141600	Weak transcription	Fetal Stomach	stomach
47	chr12:26139400-26143800	Weak transcription	Brain Anterior Caudate	brain
48	chr12:26139400-26146000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
50	chr12:26139600-26141200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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