Variant report

Variant	rs13330596
Chromosome Location	chr16:12785035-12785036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13333204	0.87[EUR][1000 genomes]
rs9922836	1.00[EUR][1000 genomes]
rs9925657	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:54 , 50 per page) page: 1 2

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	chr16:12767200-12798000	Weak transcription	Gastric	stomach
14	chr16:12767600-12786000	Weak transcription	Liver	Liver
15	chr16:12768800-12801200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:12770200-12786000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:12773400-12802800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:12774000-12786000	Weak transcription	HSMM	muscle
19	chr16:12774600-12797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:12774600-12797800	Weak transcription	Placenta	Placenta
21	chr16:12774800-12791400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:12774800-12794000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:12774800-12797200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr16:12776200-12797600	Weak transcription	Adipose Nuclei	Adipose
25	chr16:12776600-12789000	Strong transcription	HepG2	liver
26	chr16:12777000-12785800	Weak transcription	K562	blood
27	chr16:12778000-12786200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:12778000-12789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:12779200-12794200	Weak transcription	Esophagus	oesophagus
30	chr16:12779600-12786400	Weak transcription	Aorta	Aorta
31	chr16:12779800-12798000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:12780000-12800400	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:12780000-12812800	Weak transcription	NH-A	brain
34	chr16:12780600-12786400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:12780600-12794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:12780600-12794600	Weak transcription	Spleen	Spleen
37	chr16:12780800-12796000	Weak transcription	A549	lung
38	chr16:12780800-12799400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr16:12781800-12785200	Enhancers	Fetal Thymus	thymus
40	chr16:12781800-12806200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr16:12782600-12785400	Enhancers	Dnd41	blood
42	chr16:12782800-12788200	Weak transcription	HUVEC	blood vessel
43	chr16:12783800-12790000	Weak transcription	Fetal Stomach	stomach
44	chr16:12783800-12800400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:12784000-12787400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:12784000-12787400	Strong transcription	Fetal Intestine Small	intestine
47	chr16:12784400-12803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:12784400-12815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:12784600-12785200	ZNF genes & repeats	Lung	lung
50	chr16:12784600-12786800	Strong transcription	Muscle Satellite Cultured Cells	--

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