Variant report

Variant	rs9926441
Chromosome Location	chr16:12779045-12779046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12744489..12747276-chr16:12777571..12779537,2	K562	blood:
2	chr16:12774129..12776144-chr16:12777010..12779934,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13330596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333204	0.87[EUR][1000 genomes]
rs9922836	1.00[EUR][1000 genomes]
rs9925657	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised 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	19 gene(s)	inside rSNPs	diseases
8	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv905352	chr16:12755203-12780440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12752400-12803600	Weak transcription	Pancreas	Pancrea
2	chr16:12752800-12786400	Weak transcription	Fetal Intestine Large	intestine
3	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr16:12754200-12794000	Weak transcription	Ovary	ovary
5	chr16:12757000-12800200	Weak transcription	Colonic Mucosa	Colon
6	chr16:12758400-12795400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:12758400-12818200	Weak transcription	Left Ventricle	heart
8	chr16:12758600-12822400	Weak transcription	HSMMtube	muscle
9	chr16:12761600-12799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:12763200-12794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:12763600-12795600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:12764200-12786400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:12764400-12784600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:12767200-12798000	Weak transcription	Gastric	stomach
15	chr16:12767600-12786000	Weak transcription	Liver	Liver
16	chr16:12768800-12801200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:12770200-12786000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:12770400-12780400	Weak transcription	Spleen	Spleen
19	chr16:12770600-12784800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:12773400-12802800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:12774000-12786000	Weak transcription	HSMM	muscle
22	chr16:12774200-12784600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:12774600-12779400	Weak transcription	NH-A	brain
24	chr16:12774600-12797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:12774600-12797800	Weak transcription	Placenta	Placenta
26	chr16:12774800-12791400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:12774800-12794000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:12774800-12797200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:12776000-12779400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:12776200-12797600	Weak transcription	Adipose Nuclei	Adipose
31	chr16:12776600-12779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:12776600-12789000	Strong transcription	HepG2	liver
33	chr16:12777000-12785800	Weak transcription	K562	blood
34	chr16:12777400-12779600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr16:12777600-12779400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:12777800-12780400	Weak transcription	Lung	lung
37	chr16:12778000-12786200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:12778000-12789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:12778200-12784000	Weak transcription	Fetal Intestine Small	intestine
40	chr16:12778800-12779400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:12779000-12779400	Weak transcription	Monocytes-CD14+_RO01746	blood

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