Variant report

Variant	rs56032105
Chromosome Location	chr16:31458998-31458999
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	chr16:31458984-31459282	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31453146..31459042-chr16:31460540..31465724,10	K562	blood:
2	chr16:31454366..31455981-chr16:31456351..31459046,2	K562	blood:
3	chr16:31191539..31194106-chr16:31456375..31459334,2	K562	blood:

Variant related genes	Relation type
ZNF843	TF binding region
ENSG00000261474	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11863224	1.00[EUR][1000 genomes]
rs13332937	1.00[EUR][1000 genomes]
rs13333019	1.00[EUR][1000 genomes]
rs13337777	1.00[EUR][1000 genomes]
rs2230427	1.00[EUR][1000 genomes]
rs28475579	1.00[EUR][1000 genomes]
rs28638273	1.00[EUR][1000 genomes]
rs28735967	1.00[EUR][1000 genomes]
rs58260800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585879	1.00[EUR][1000 genomes]
rs59137066	1.00[EUR][1000 genomes]
rs59843953	1.00[EUR][1000 genomes]
rs7184740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192438	1.00[EUR][1000 genomes]
rs7194219	1.00[EUR][1000 genomes]
rs7197892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015528	1.00[EUR][1000 genomes]
rs74015530	1.00[EUR][1000 genomes]
rs74015540	1.00[EUR][1000 genomes]
rs8052027	1.00[EUR][1000 genomes]
rs9925472	1.00[EUR][1000 genomes]
rs9932709	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9933104	0.98[AFR][1000 genomes]
rs9939859	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
6	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
7	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
8	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
9	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
10	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
11	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
12	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31454400-31462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:31454400-31462800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:31454600-31462600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:31454600-31462800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:31454600-31462800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:31454600-31462800	Weak transcription	Fetal Stomach	stomach
7	chr16:31454600-31463000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:31454600-31463000	Weak transcription	Right Atrium	heart
9	chr16:31454600-31463800	Weak transcription	Esophagus	oesophagus
10	chr16:31454600-31464600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:31454600-31466400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:31454800-31462800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr16:31454800-31462800	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:31454800-31462800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:31454800-31463000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:31454800-31466400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:31454800-31466400	Weak transcription	Primary T cells from cord blood	blood
18	chr16:31454800-31466400	Weak transcription	Dnd41	blood
19	chr16:31454800-31466600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:31455600-31463000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:31455600-31464800	Weak transcription	Fetal Intestine Small	intestine
22	chr16:31457600-31466800	Weak transcription	Brain Germinal Matrix	brain
23	chr16:31457800-31462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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