Variant report

Variant	rs11168361
Chromosome Location	chr12:48419060-48419061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48418539..48420191-chr12:48595608..48598283,2	K562	blood:
2	chr12:48417372..48419126-chr12:48439664..48441801,2	MCF-7	breast:
3	chr12:48416900..48419304-chr12:48549157..48552214,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM106C-1	chr12:48416618-48419252	ENSG00000257985.1

Variant related genes	Relation type
ENSG00000177981	Chromatin interaction
ENSG00000172640	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10492082	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875726	0.91[ASN][1000 genomes]
rs10875727	0.91[ASN][1000 genomes]
rs10875733	0.92[ASN][1000 genomes]
rs11168350	0.88[ASN][1000 genomes]
rs11168353	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168354	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168358	0.89[ASN][1000 genomes]
rs11168363	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168364	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168373	0.92[ASN][1000 genomes]
rs11834818	0.83[ASN][1000 genomes]
rs12422355	0.81[ASN][1000 genomes]
rs12426981	0.83[ASN][1000 genomes]
rs17122567	0.88[ASN][1000 genomes]
rs1859440	0.90[ASN][1000 genomes]
rs1859442	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2056448	0.95[ASN][1000 genomes]
rs2240306	0.93[ASN][1000 genomes]
rs2408954	0.96[ASN][1000 genomes]
rs3742075	0.83[ASN][1000 genomes]
rs58086963	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59667534	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135261	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7299704	0.86[ASN][1000 genomes]
rs733592	0.90[ASN][1000 genomes]
rs765260	0.89[ASN][1000 genomes]
rs9651981	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9804751	0.88[ASN][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48415800-48420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:48416800-48423400	Weak transcription	Right Atrium	heart
3	chr12:48417600-48420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:48417800-48419200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:48417800-48421400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:48417800-48423400	Weak transcription	Fetal Lung	lung
7	chr12:48418000-48420200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:48418000-48422200	Weak transcription	Fetal Heart	heart
9	chr12:48418200-48422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:48418200-48424200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48418400-48419600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:48418400-48425800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:48418600-48419400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:48418600-48421000	Enhancers	Fetal Intestine Small	intestine
15	chr12:48418600-48425200	Enhancers	Fetal Intestine Large	intestine
16	chr12:48418800-48421000	Weak transcription	Right Ventricle	heart
17	chr12:48419000-48419200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:48419000-48419200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:48419000-48419200	Enhancers	HepG2	liver

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