Variant report

Variant	rs16950118
Chromosome Location	chr12:120836225-120836226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120835190..120836775-chr12:120838307..120839934,2	K562	blood:
2	chr12:120836022..120837604-chr12:120880612..120883429,2	MCF-7	breast:
3	chr12:120834498..120836387-chr12:120865850..120867450,2	MCF-7	breast:
4	chr12:120831282..120833716-chr12:120835765..120838014,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1151821	1.00[EUR][1000 genomes]
rs1166789	1.00[EUR][1000 genomes]
rs1179386	1.00[TSI][hapmap]
rs1632619	1.00[EUR][1000 genomes]
rs59470045	1.00[EUR][1000 genomes]
rs7303640	1.00[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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16950118	TCF4	trans	lymphoblastoid	seeQTL
rs16950118	F12	trans	lymphoblastoid	seeQTL
rs16950118	CABP1	cis	lymphoblastoid	seeQTL
rs16950118	UNC119B	cis	lymphoblastoid	seeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120827200-120875200	Weak transcription	Right Atrium	heart
2	chr12:120831000-120837800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:120833000-120839800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:120833000-120840200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:120833200-120839600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:120834400-120837800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:120835000-120837600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:120835200-120837200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:120835400-120836600	Enhancers	Fetal Brain Male	brain
10	chr12:120835600-120836400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr12:120835600-120836400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:120835600-120836400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:120835600-120836600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:120835600-120836600	Enhancers	Liver	Liver
15	chr12:120835800-120836400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:120835800-120836400	Enhancers	A549	lung
17	chr12:120835800-120837000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:120836000-120836400	Enhancers	Brain Germinal Matrix	brain
19	chr12:120836000-120836400	Enhancers	Fetal Brain Female	brain
20	chr12:120836000-120836600	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr12:120836200-120836400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:120836200-120836600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:120836200-120837200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:120836200-120837200	Weak transcription	NH-A	brain
25	chr12:120836200-120837800	Enhancers	GM12878-XiMat	blood
26	chr12:120836200-120839800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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