Variant report

Variant	rs7121896
Chromosome Location	chr11:18802126-18802127
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	chr11:18801236..18803235-chr11:18806253..18807765,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12575115	0.86[ASN][1000 genomes]
rs35763160	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4073915	0.86[ASN][1000 genomes]
rs4265582	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56268487	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56295396	0.86[ASN][1000 genomes]
rs7129580	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][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	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7121896	PTPN5	cis	Artery Tibial	GTEx
rs7121896	PTPN5	cis	Adipose Subcutaneous	GTEx
rs7121896	PTPN5	cis	Esophagus Mucosa	GTEx
rs7121896	PTPN5	cis	Nerve Tibial	GTEx
rs7121896	PTPN5	cis	Thyroid	GTEx
rs7121896	PTPN5	cis	Esophagus Muscularis	GTEx
rs7121896	PTPN5	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18784000-18808000	Weak transcription	Fetal Brain Female	brain
2	chr11:18790800-18811400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:18793600-18809000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:18794600-18811800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:18795400-18804600	Weak transcription	Brain Anterior Caudate	brain
6	chr11:18796400-18812400	Weak transcription	Right Atrium	heart
7	chr11:18800000-18802400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:18800600-18802200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:18800800-18802200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:18801400-18802200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:18801400-18802400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:18801400-18802400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:18801400-18802400	Weak transcription	Left Ventricle	heart
14	chr11:18801600-18802200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:18801600-18802200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:18801600-18802400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:18801600-18802400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:18801800-18802200	Enhancers	Fetal Intestine Small	intestine
19	chr11:18801800-18802200	Bivalent Enhancer	Placenta	Placenta
20	chr11:18801800-18802200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:18801800-18802400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:18801800-18802600	Enhancers	Spleen	Spleen
23	chr11:18802000-18802200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:18802000-18802400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:18802000-18802600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:18802000-18802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:18802000-18802600	Enhancers	Duodenum Mucosa	Duodenum

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