Variant report

Variant	rs546458862
Chromosome Location	chr12:26142926-26142927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26109854..26111923-chr12:26141981..26144647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
5	nsv983482	chr12:26142257-26146356	Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 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	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:26133000-26144600	Weak transcription	HMEC	breast
9	chr12:26133000-26144600	Weak transcription	NHEK	skin
10	chr12:26133000-26145200	Weak transcription	NH-A	brain
11	chr12:26133000-26145200	Weak transcription	Osteobl	bone
12	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:26134400-26145400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:26134400-26145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:26137200-26143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:26138400-26146800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:26138800-26145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:26139200-26145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:26139200-26147400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:26139400-26143800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:26139400-26146000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
24	chr12:26139600-26144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:26139600-26144400	Weak transcription	Left Ventricle	heart
26	chr12:26139600-26145800	Weak transcription	Brain Substantia Nigra	brain
27	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
28	chr12:26139800-26144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:26139800-26145000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:26139800-26146800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:26140200-26144400	Weak transcription	Right Ventricle	heart
32	chr12:26140200-26145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:26140200-26145600	Weak transcription	Aorta	Aorta
34	chr12:26140200-26147600	Weak transcription	Ovary	ovary
35	chr12:26140400-26144400	Weak transcription	Right Atrium	heart
36	chr12:26140400-26144400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:26141200-26143600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:26141400-26144600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:26141600-26143200	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:26141800-26143000	Enhancers	HUVEC	blood vessel
41	chr12:26141800-26144400	Weak transcription	NHDF-Ad	bronchial
42	chr12:26141800-26144600	Weak transcription	Fetal Heart	heart
43	chr12:26141800-26144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:26141800-26146800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:26142000-26144400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:26142000-26145200	Weak transcription	Fetal Lung	lung
47	chr12:26142000-26149000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:26142200-26143800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:26142200-26144600	Weak transcription	Psoas Muscle	Psoas
50	chr12:26142200-26145000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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