Variant report

Variant	rs11914795
Chromosome Location	chr3:47557722-47557723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr3:47556838-47557795	K562	blood:	n/a	n/a
2	YY1	chr3:47557701-47557946	K562	blood:	n/a	n/a
3	MAX	chr3:47557382-47557932	K562	blood:	n/a	n/a
4	UBTF	chr3:47557552-47557764	K562	blood:	n/a	n/a
5	MAX	chr3:47557499-47557750	K562	blood:	n/a	n/a
6	MYC	chr3:47557622-47557746	K562	blood:	n/a	n/a
7	MYC	chr3:47557555-47557779	K562	blood:	n/a	n/a
8	RCOR1	chr3:47557348-47557860	K562	blood:	n/a	n/a
9	JUND	chr3:47557387-47557734	K562	blood:	n/a	n/a
10	KAP1	chr3:47557288-47557904	HEK293	kidney:	n/a	n/a
11	CEBPB	chr3:47557542-47557740	K562	blood:	n/a	n/a
12	TBP	chr3:47557416-47557898	K562	blood:	n/a	n/a
13	YY1	chr3:47557721-47557916	K562	blood:	n/a	n/a
14	EP300	chr3:47557419-47557900	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47537303..47543925-chr3:47549598..47557776,11	K562	blood:
2	chr3:47515959..47519018-chr3:47554813..47558530,7	K562	blood:
3	chr3:47419982..47424786-chr3:47552828..47558423,7	K562	blood:
4	chr3:47555986..47558236-chr3:47820565..47823335,2	MCF-7	breast:
5	chr3:47514858..47522453-chr3:47552535..47558710,16	K562	blood:
6	chr3:47554900..47556801-chr3:47557021..47559490,2	K562	blood:
7	chr3:47555068..47558623-chr3:47821026..47823771,5	K562	blood:
8	chr3:47556727..47558311-chr3:47843936..47845500,2	K562	blood:
9	chr3:47421047..47423962-chr3:47553797..47559192,6	MCF-7	breast:
10	chr3:47557074..47559388-chr3:47561616..47564060,3	K562	blood:

No data

Variant related genes	Relation type
ELP6	TF binding region
ENSG00000260236	Chromatin interaction
ENSG00000271161	Chromatin interaction
ENSG00000163832	Chromatin interaction
ENSG00000272110	Chromatin interaction
ENSG00000132153	Chromatin interaction
ENSG00000114650	Chromatin interaction
ENSG00000076201	Chromatin interaction
ENSG00000173473	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11130132	0.83[EUR][1000 genomes]
rs11130133	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130137	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11707895	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11711265	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11713413	0.81[ASN][1000 genomes]
rs11914913	0.82[EUR][1000 genomes]
rs11914932	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12490058	0.84[EUR][1000 genomes]
rs12630641	0.84[EUR][1000 genomes]
rs13059519	0.85[EUR][1000 genomes]
rs1564761	0.84[ASN][1000 genomes]
rs17784882	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1872166	0.84[ASN][1000 genomes]
rs2291298	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34634681	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3816779	0.84[EUR][1000 genomes]
rs4599332	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858856	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62260710	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62260711	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62260741	0.86[ASN][1000 genomes]
rs6765990	0.85[EUR][1000 genomes]
rs6790763	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7628631	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7651194	0.85[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
rs11914795	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs11914795	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47555400-47563800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:47555600-47558000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:47555600-47562000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:47555600-47562000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:47555600-47562200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:47555600-47562200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:47555600-47563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:47555600-47563800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:47555600-47563800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:47555600-47563800	Weak transcription	NHLF	lung
11	chr3:47555600-47564200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:47555600-47568200	Weak transcription	Right Atrium	heart
13	chr3:47555800-47562600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:47556000-47559600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:47556200-47558000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:47556400-47558000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:47557000-47557800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:47557000-47558000	Flanking Active TSS	K562	blood
19	chr3:47557000-47558400	Enhancers	HepG2	liver
20	chr3:47557200-47557800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:47557600-47558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:47557600-47558200	Enhancers	Ovary	ovary

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