Variant report

Variant	rs13339393
Chromosome Location	chr16:31215983-31215984
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	POLR2A	chr16:31215965-31216522	GM12891	blood:	n/a	n/a
2	POLR2A	chr16:31215963-31216516	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:31215832-31216272	K562	blood:	n/a	n/a
4	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:31215772-31216717	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr16:31215673-31216036	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31196143-31216629	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31214850..31217153-chr16:31224265..31226762,3	MCF-7	breast:

Variant related genes	Relation type
PYCARD	TF binding region
ENSG00000177238	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13331793	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28428182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34107331	1.00[AMR][1000 genomes]
rs34259949	1.00[AMR][1000 genomes]
rs34831291	1.00[AMR][1000 genomes]
rs34889904	1.00[AMR][1000 genomes]
rs56196402	1.00[AMR][1000 genomes]
rs59076556	1.00[AMR][1000 genomes]
rs61237574	1.00[AMR][1000 genomes]
rs74015066	1.00[AMR][1000 genomes]
rs74015068	1.00[AMR][1000 genomes]
rs74015069	1.00[AMR][1000 genomes]
rs74015071	1.00[AMR][1000 genomes]
rs74015099	1.00[AMR][1000 genomes]
rs74018303	1.00[AMR][1000 genomes]
rs9888851	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922051	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31214400-31218000	Weak transcription	K562	blood
2	chr16:31214600-31216200	Enhancers	Primary B cells from peripheral blood	blood
3	chr16:31214600-31217800	Weak transcription	Pancreas	Pancrea
4	chr16:31214600-31218000	Weak transcription	Fetal Intestine Large	intestine
5	chr16:31214800-31216200	Enhancers	GM12878-XiMat	blood
6	chr16:31214800-31216400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:31214800-31216400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr16:31214800-31217800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:31214800-31218200	Weak transcription	Fetal Intestine Small	intestine
10	chr16:31215000-31216600	Enhancers	Spleen	Spleen
11	chr16:31215000-31217600	Weak transcription	NHEK	skin
12	chr16:31215200-31218000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:31215200-31218200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:31215400-31216800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr16:31215400-31217800	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:31215400-31218000	Weak transcription	Hela-S3	cervix
17	chr16:31215400-31218400	Weak transcription	A549	lung
18	chr16:31215400-31218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:31215400-31219400	Weak transcription	Colonic Mucosa	Colon
20	chr16:31215600-31223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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