Variant report

Variant	rs539738134
Chromosome Location	chr12:26124295-26124296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:26124280-26124430	RPTEC	kidney:	n/a	n/a
2	CTCF	chr12:26124260-26124410	HMEC	breast:	n/a	n/a

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26113400-26128800	Weak transcription	HSMM	muscle
3	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:26114200-26125600	Weak transcription	HMEC	breast
6	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
7	chr12:26116600-26124600	Weak transcription	NHLF	lung
8	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
10	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
12	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:26119600-26124400	Enhancers	Brain Hippocampus Middle	brain
14	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:26119800-26124400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:26120000-26125000	Enhancers	Brain Anterior Caudate	brain
17	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:26120200-26124600	Enhancers	Brain Substantia Nigra	brain
19	chr12:26120600-26125000	Enhancers	Ovary	ovary
20	chr12:26120600-26125000	Enhancers	Psoas Muscle	Psoas
21	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:26121200-26126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:26121600-26124800	Enhancers	HUVEC	blood vessel
25	chr12:26121800-26124400	Enhancers	Lung	lung
26	chr12:26121800-26125000	Enhancers	Right Atrium	heart
27	chr12:26122000-26125000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:26122200-26125000	Enhancers	NH-A	brain
29	chr12:26122200-26126200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:26122400-26124400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:26122400-26124400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:26122400-26126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:26122400-26128200	Enhancers	Osteobl	bone
34	chr12:26122600-26126800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:26122600-26127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:26122800-26125200	Enhancers	Aorta	Aorta
37	chr12:26123000-26124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:26123200-26124600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:26123200-26127000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr12:26123400-26124400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:26123400-26125000	Enhancers	Adipose Nuclei	Adipose
42	chr12:26123400-26125000	Enhancers	Fetal Muscle Leg	muscle
43	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:26123600-26124400	Enhancers	Brain Angular Gyrus	brain
45	chr12:26123600-26124400	Enhancers	Esophagus	oesophagus
46	chr12:26123600-26124400	Enhancers	Right Ventricle	heart
47	chr12:26123600-26124800	Enhancers	Fetal Lung	lung
48	chr12:26123600-26125000	Enhancers	Left Ventricle	heart
49	chr12:26123600-26125000	Enhancers	Pancreas	Pancrea
50	chr12:26123600-26125200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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