Variant report

Variant	rs12444818
Chromosome Location	chr16:12796150-12796151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11075148	0.89[CEU][hapmap]
rs11075151	0.90[CEU][hapmap]
rs12443898	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs12445596	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes]
rs12445723	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12446541	0.82[AMR][1000 genomes]
rs12447643	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs13332084	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7202616	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72779045	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72779047	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72779050	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72779056	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72779059	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72779063	0.86[AMR][1000 genomes]
rs72779072	0.82[AMR][1000 genomes]
rs8044840	0.90[EUR][1000 genomes]
rs9922287	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv1043773	chr16:12791629-12810232	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12752400-12803600	Weak transcription	Pancreas	Pancrea
2	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr16:12757000-12800200	Weak transcription	Colonic Mucosa	Colon
4	chr16:12758400-12818200	Weak transcription	Left Ventricle	heart
5	chr16:12758600-12822400	Weak transcription	HSMMtube	muscle
6	chr16:12761600-12799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:12767200-12798000	Weak transcription	Gastric	stomach
8	chr16:12768800-12801200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:12773400-12802800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:12774600-12797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:12774600-12797800	Weak transcription	Placenta	Placenta
12	chr16:12774800-12797200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr16:12776200-12797600	Weak transcription	Adipose Nuclei	Adipose
14	chr16:12779800-12798000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12780000-12800400	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:12780000-12812800	Weak transcription	NH-A	brain
17	chr16:12780800-12799400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:12781800-12806200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:12783800-12800400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:12784400-12803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:12784400-12815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:12785200-12800600	Weak transcription	Brain Anterior Caudate	brain
23	chr16:12785600-12800600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:12785800-12800200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:12786600-12804800	Weak transcription	HSMM	muscle
26	chr16:12787800-12802200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr16:12790000-12797400	Weak transcription	Right Ventricle	heart
28	chr16:12790200-12800600	Weak transcription	Brain Angular Gyrus	brain
29	chr16:12790200-12801400	Strong transcription	HepG2	liver
30	chr16:12790400-12800000	Weak transcription	Primary B cells from cord blood	blood
31	chr16:12793200-12799400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr16:12793200-12803200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr16:12793400-12805000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:12793800-12798800	Strong transcription	Aorta	Aorta
35	chr16:12793800-12798800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr16:12793800-12799000	Strong transcription	Fetal Intestine Small	intestine
37	chr16:12793800-12801600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:12794000-12796600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:12794000-12798400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:12794000-12799400	Strong transcription	Fetal Intestine Large	intestine
41	chr16:12794000-12799800	Weak transcription	Thymus	Thymus
42	chr16:12794200-12796200	Strong transcription	Esophagus	oesophagus
43	chr16:12794200-12800000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr16:12794200-12800400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:12794200-12800600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr16:12794200-12800600	Weak transcription	Brain Substantia Nigra	brain
47	chr16:12794200-12800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:12794400-12798000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:12794400-12799200	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:12795200-12796200	Strong transcription	Lung	lung

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