Variant report

Variant	rs2088235
Chromosome Location	chr12:117238543-117238544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117236086..117238833-chr12:117240782..117242383,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17616308	1.00[ASN][1000 genomes]
rs4767455	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4767456	1.00[ASN][1000 genomes]
rs7305537	1.00[ASN][1000 genomes]
rs7316426	1.00[ASN][1000 genomes]
rs7978853	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117222000-117248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117223600-117246200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:117227000-117249200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:117234600-117246800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:117237000-117256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:117237200-117246600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:117237200-117256200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:117237200-117256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:117237400-117238600	Weak transcription	A549	lung
14	chr12:117237400-117246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:117237600-117244200	Weak transcription	Fetal Brain Female	brain
16	chr12:117237800-117246400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:117237800-117256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:117237800-117256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:117238000-117238800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:117238000-117239200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:117238000-117240000	Weak transcription	Dnd41	blood
22	chr12:117238000-117241200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:117238000-117244800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:117238000-117256200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:117238000-117256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:117238200-117240800	Weak transcription	Thymus	Thymus
27	chr12:117238400-117255600	Enhancers	Fetal Thymus	thymus

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