Variant report

Variant	rs7967489
Chromosome Location	chr12:117561043-117561044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117560289..117562463-chr12:117565995..117568462,3	K562	blood:
2	chr12:117414140..117416516-chr12:117559859..117561892,2	K562	blood:

Variant related genes	Relation type
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2893705	0.83[AMR][1000 genomes]
rs3862136	0.83[AMR][1000 genomes]
rs4271458	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7301810	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7967489	PTPN11	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117551600-117566000	Weak transcription	Spleen	Spleen
2	chr12:117553000-117563800	Weak transcription	Pancreas	Pancrea
3	chr12:117553400-117562600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117557400-117562600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:117557400-117562800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:117557400-117565800	Weak transcription	Gastric	stomach
7	chr12:117557600-117561200	Weak transcription	Right Atrium	heart
8	chr12:117557600-117561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:117557600-117562200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:117557600-117562200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:117557600-117564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:117557800-117561800	Weak transcription	HepG2	liver
13	chr12:117557800-117562200	Weak transcription	Fetal Thymus	thymus
14	chr12:117557800-117562400	Weak transcription	Dnd41	blood
15	chr12:117559000-117562200	Weak transcription	Hela-S3	cervix
16	chr12:117559000-117564800	Weak transcription	Right Ventricle	heart
17	chr12:117559600-117561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:117559800-117562400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:117559800-117563000	Weak transcription	Fetal Brain Male	brain
20	chr12:117559800-117563000	Weak transcription	Fetal Brain Female	brain
21	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
22	chr12:117560000-117561800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:117560000-117562400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:117560000-117562600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:117560200-117561800	Weak transcription	A549	lung
27	chr12:117560400-117562200	Weak transcription	HUVEC	blood vessel
28	chr12:117560800-117563400	Enhancers	Fetal Heart	heart

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