Variant report

Variant	rs11914932
Chromosome Location	chr3:47558184-47558185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47515959..47519018-chr3:47554813..47558530,7	K562	blood:
2	chr3:47419982..47424786-chr3:47552828..47558423,7	K562	blood:
3	chr3:47555986..47558236-chr3:47820565..47823335,2	MCF-7	breast:
4	chr3:47514858..47522453-chr3:47552535..47558710,16	K562	blood:
5	chr3:47554900..47556801-chr3:47557021..47559490,2	K562	blood:
6	chr3:47555068..47558623-chr3:47821026..47823771,5	K562	blood:
7	chr3:47556727..47558311-chr3:47843936..47845500,2	K562	blood:
8	chr3:47421047..47423962-chr3:47553797..47559192,6	MCF-7	breast:
9	chr3:47557074..47559388-chr3:47561616..47564060,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132153	Chromatin interaction
ENSG00000173473	Chromatin interaction
ENSG00000076201	Chromatin interaction
ENSG00000260236	Chromatin interaction
ENSG00000114650	Chromatin interaction
ENSG00000163832	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1038394	0.82[EUR][1000 genomes]
rs10865946	0.80[EUR][1000 genomes]
rs11130128	0.88[EUR][1000 genomes]
rs11130129	0.89[EUR][1000 genomes]
rs11130132	0.97[EUR][1000 genomes]
rs11130133	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130137	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11705957	0.81[EUR][1000 genomes]
rs11707895	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11711265	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11711824	0.81[EUR][1000 genomes]
rs11712445	0.81[EUR][1000 genomes]
rs11713413	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11716763	0.91[EUR][1000 genomes]
rs11719877	0.81[EUR][1000 genomes]
rs11914795	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11914913	0.95[EUR][1000 genomes]
rs11925823	0.80[EUR][1000 genomes]
rs12486969	0.80[EUR][1000 genomes]
rs12489046	0.91[EUR][1000 genomes]
rs12490058	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12492433	0.91[EUR][1000 genomes]
rs12497225	0.81[EUR][1000 genomes]
rs12630641	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12632132	0.82[EUR][1000 genomes]
rs12636851	0.83[EUR][1000 genomes]
rs13059519	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs13064843	0.81[EUR][1000 genomes]
rs13075233	0.81[EUR][1000 genomes]
rs1531875	0.82[EUR][1000 genomes]
rs1564760	0.89[ASN][1000 genomes]
rs1564761	0.93[ASN][1000 genomes]
rs17784882	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1872164	0.81[EUR][1000 genomes]
rs1872166	0.93[ASN][1000 genomes]
rs2062278	0.81[EUR][1000 genomes]
rs2101247	0.89[EUR][1000 genomes]
rs2291298	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34634681	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736177	0.82[EUR][1000 genomes]
rs3816779	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4599332	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858856	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4858868	0.82[EUR][1000 genomes]
rs4858894	0.87[EUR][1000 genomes]
rs56032309	0.81[EUR][1000 genomes]
rs57346147	0.81[EUR][1000 genomes]
rs59586735	0.91[EUR][1000 genomes]
rs60369822	0.86[EUR][1000 genomes]
rs62248599	0.90[EUR][1000 genomes]
rs62248603	0.86[EUR][1000 genomes]
rs62248605	0.92[EUR][1000 genomes]
rs62260710	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62260711	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62260741	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6765990	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6768879	0.86[ASN][1000 genomes]
rs6787422	0.81[EUR][1000 genomes]
rs6790763	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6792461	0.82[EUR][1000 genomes]
rs6792488	0.88[EUR][1000 genomes]
rs6800271	0.81[EUR][1000 genomes]
rs73081205	0.89[EUR][1000 genomes]
rs7628631	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7649234	0.88[EUR][1000 genomes]
rs7651194	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7651762	0.82[EUR][1000 genomes]
rs878659	0.89[EUR][1000 genomes]
rs922957	0.81[EUR][1000 genomes]
rs9683033	0.88[EUR][1000 genomes]
rs9683177	0.88[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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11914932	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs11914932	SETD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47555400-47563800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:47555600-47562000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:47555600-47562000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:47555600-47562200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:47555600-47562200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:47555600-47563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:47555600-47563800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:47555600-47563800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:47555600-47563800	Weak transcription	NHLF	lung
10	chr3:47555600-47564200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:47555600-47568200	Weak transcription	Right Atrium	heart
12	chr3:47555800-47562600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:47556000-47559600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:47557000-47558400	Enhancers	HepG2	liver
15	chr3:47557600-47558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:47557600-47558200	Enhancers	Ovary	ovary
17	chr3:47557800-47562000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:47558000-47558400	Enhancers	K562	blood
19	chr3:47558000-47562000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:47558000-47562000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:47558000-47562200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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