Variant report

Variant	rs7105963
Chromosome Location	chr11:120468752-120468753
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	chr11:120467473..120469063-chr11:120472319..120475182,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11217924	0.84[AMR][1000 genomes]
rs1320721	0.83[AFR][1000 genomes]
rs4245037	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4375451	0.83[TSI][hapmap]
rs4935744	0.89[TSI][hapmap]
rs4936522	0.86[AFR][1000 genomes]
rs4936533	0.86[TSI][hapmap]
rs7131215	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7105963	TREH	cis	cerebellum	SCAN
rs7105963	BUD13	cis	cerebellum	SCAN
rs7105963	PDZD3	cis	parietal	SCAN
rs7105963	C1QTNF5	cis	parietal	SCAN
rs7105963	FXYD6	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120463200-120470200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:120463200-120470400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:120463400-120470200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:120463400-120470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:120467800-120468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:120467800-120471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120468000-120468800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr11:120468200-120468800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:120468200-120468800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:120468200-120468800	Active TSS	Brain Anterior Caudate	brain
11	chr11:120468200-120468800	Active TSS	Brain Hippocampus Middle	brain
12	chr11:120468200-120468800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
13	chr11:120468200-120468800	Flanking Active TSS	GM12878-XiMat	blood
14	chr11:120468400-120468800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:120468400-120468800	Flanking Active TSS	Fetal Brain Male	brain
16	chr11:120468400-120468800	Active TSS	Ovary	ovary
17	chr11:120468400-120468800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr11:120468600-120468800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:120468600-120468800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:120468600-120469000	Flanking Active TSS	Fetal Lung	lung
21	chr11:120468600-120470000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:120468600-120472400	Weak transcription	Fetal Brain Female	brain
23	chr11:120468600-120479400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:120468600-120479400	Weak transcription	Brain Substantia Nigra	brain

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