Variant report

Variant	rs7316436
Chromosome Location	chr12:117247174-117247175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117174208..117175948-chr12:117246360..117248335,2	MCF-7	breast:
2	chr12:117246891..117249993-chr12:117250425..117253317,3	K562	blood:
3	chr12:117240824..117242637-chr12:117245468..117248062,2	K562	blood:
4	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:

Variant related genes	Relation type
ENSG00000111412	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17429217	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60271353	1.00[AMR][1000 genomes]
rs7131700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][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	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:117227000-117249200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:117237000-117256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:117237200-117256200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:117237200-117256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:117237800-117256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:117237800-117256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:117238000-117256200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:117238000-117256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:117238400-117255600	Enhancers	Fetal Thymus	thymus
15	chr12:117239800-117247200	Weak transcription	Aorta	Aorta
16	chr12:117242000-117256200	Weak transcription	GM12878-XiMat	blood
17	chr12:117242200-117256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:117244800-117247200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:117244800-117248400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:117245400-117251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:117245600-117247800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:117245600-117248600	Enhancers	Thymus	Thymus
23	chr12:117245800-117248000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:117246600-117248200	Strong transcription	Brain Germinal Matrix	brain
25	chr12:117246800-117251000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:117247000-117255800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:117247000-117256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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