Variant report

Variant	rs17129355
Chromosome Location	chr12:41832872-41832873
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]
rs17129383	1.00[AMR][1000 genomes]
rs17129387	1.00[AMR][1000 genomes]
rs17129395	1.00[AMR][1000 genomes]
rs17129414	1.00[AMR][1000 genomes]
rs59252906	1.00[AMR][1000 genomes]
rs73278045	1.00[AMR][1000 genomes]
rs73278051	1.00[AMR][1000 genomes]
rs73278057	1.00[AMR][1000 genomes]
rs73278073	1.00[AMR][1000 genomes]
rs73278074	1.00[AMR][1000 genomes]
rs73278076	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	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1037987	chr12:41815867-41840251	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41830400-41834200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41830400-41834400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:41831200-41833800	Active TSS	Brain Anterior Caudate	brain
5	chr12:41831200-41833800	Active TSS	Brain Hippocampus Middle	brain
6	chr12:41831200-41834200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:41831400-41833000	Active TSS	Brain Angular Gyrus	brain
8	chr12:41831400-41838400	Active TSS	Brain Germinal Matrix	brain
9	chr12:41831600-41833800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr12:41831600-41834000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:41831800-41834600	Active TSS	Fetal Brain Female	brain
12	chr12:41832000-41834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:41832000-41834000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:41832200-41833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:41832200-41833600	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:41832200-41836800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:41832400-41833400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:41832600-41833000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:41832600-41833000	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr12:41832600-41833000	Flanking Active TSS	Fetal Brain Male	brain
21	chr12:41832600-41833800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:41832600-41834000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:41832800-41833000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:41832800-41833000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:41832800-41833600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:41832800-41833600	Enhancers	Fetal Kidney	kidney
27	chr12:41832800-41833800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:41832800-41833800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:41832800-41834000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:41832800-41834200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:41832800-41834200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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