Variant report

Variant	rs11773349
Chromosome Location	chr7:64407164-64407165
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:64407112-64407431	HCT-116	colon:	n/a	chr7:64407328-64407347 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
2	RAD21	chr7:64407119-64407539	HepG2	liver:	n/a	chr7:64407328-64407347 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
3	RAD21	chr7:64407086-64407467	H1-hESC	embryonic stem cell:	n/a	chr7:64407328-64407347 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
4	CTCF	chr7:64407123-64407508	K562	blood:	n/a	chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407336-64407345
5	CTCF	chr7:64407155-64407483	HepG2	liver:	n/a	chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407336-64407345
6	RAD21	chr7:64407147-64407605	MCF-7	breast:	n/a	chr7:64407328-64407347 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
7	ZNF263	chr7:64407065-64407799	K562	blood:	n/a	n/a
8	RAD21	chr7:64407083-64407464	SK-N-SH_RA	brain:	n/a	chr7:64407328-64407347 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
9	CTCF	chr7:64407040-64407190	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr7:64407155-64407483	SK-N-SH_RA	brain:	n/a	chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407336-64407345
11	ZNF263	chr7:64406919-64407764	HEK293-T-REx	kidney:	n/a	n/a
12	CTCF	chr7:64407160-64407310	HFF	foreskin:	n/a	chr7:64407289-64407302
13	RAD21	chr7:64407117-64407515	HepG2	liver:	n/a	chr7:64407328-64407347 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
14	CTCF	chr7:64407120-64407390	HRE	kidney:	n/a	chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407336-64407345
15	SMC3	chr7:64406965-64407929	SK-N-SH	brain:	n/a	chr7:64407332-64407346 chr7:64407844-64407854 chr7:64407332-64407342 chr7:64407834-64407844
16	CTCF	chr7:64406974-64408402	SK-N-SH	brain:	n/a	chr7:64407831-64407844 chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407898-64407911 chr7:64407841-64407854 chr7:64407336-64407345
17	RAD21	chr7:64406776-64408525	SK-N-SH	brain:	n/a	chr7:64407328-64407347 chr7:64407843-64407857 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
18	CTCF	chr7:64407164-64407518	GM12878	blood:	n/a	chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407336-64407345
19	CTCF	chr7:64407089-64407631	MCF-7	breast:	n/a	chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407336-64407345

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64407101..64409765-chr7:64410479..64412336,2	MCF-7	breast:
2	chr7:64314110..64316754-chr7:64405768..64408146,2	K562	blood:

Variant related genes	Relation type
ENSG00000270948	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10240146	0.82[ASN][1000 genomes]
rs4392773	0.82[ASN][1000 genomes]
rs55780785	0.84[ASN][1000 genomes]
rs55887902	0.93[ASN][1000 genomes]
rs56391048	0.83[ASN][1000 genomes]
rs56785930	0.82[ASN][1000 genomes]
rs58676599	0.86[ASN][1000 genomes]
rs59477017	0.86[ASN][1000 genomes]
rs59666562	0.86[ASN][1000 genomes]
rs60779365	0.84[ASN][1000 genomes]
rs67686910	0.84[ASN][1000 genomes]
rs6976546	0.84[ASN][1000 genomes]
rs6978473	0.84[ASN][1000 genomes]
rs73132347	0.83[ASN][1000 genomes]
rs73132368	0.84[ASN][1000 genomes]
rs73132377	0.84[ASN][1000 genomes]
rs73137851	0.93[ASN][1000 genomes]
rs7782095	0.91[ASN][1000 genomes]
rs7784902	0.83[ASN][1000 genomes]
rs7788090	0.84[ASN][1000 genomes]
rs7808498	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11773349	RP11-460N20.5	cis	Whole Blood	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64400600-64407600	Weak transcription	Right Atrium	heart
2	chr7:64405200-64407600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:64405800-64407400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:64405800-64407600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:64405800-64407600	Enhancers	Esophagus	oesophagus
6	chr7:64406000-64407200	Enhancers	HepG2	liver
7	chr7:64406200-64407400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr7:64406400-64407200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:64406400-64407400	Enhancers	K562	blood
10	chr7:64406800-64407200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr7:64406800-64407600	Weak transcription	Fetal Heart	heart
12	chr7:64407000-64407200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:64407000-64407400	Bivalent Enhancer	Brain Hippocampus Middle	brain
14	chr7:64407000-64407600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:64407000-64407600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain

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