Variant report

Variant	rs12448443
Chromosome Location	chr16:12371915-12371916
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	chr16:12371620..12373730-chr16:12377552..12379421,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11075057	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075058	0.93[EUR][1000 genomes]
rs11075059	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11639640	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644788	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11649626	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11861914	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12148953	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12445263	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12445569	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12446650	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13335852	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs176717	0.82[EUR][1000 genomes]
rs17697005	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17764604	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2089251	0.82[EUR][1000 genomes]
rs209846	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209849	0.84[EUR][1000 genomes]
rs209850	0.85[EUR][1000 genomes]
rs209851	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs209853	0.86[EUR][1000 genomes]
rs209855	0.82[EUR][1000 genomes]
rs209856	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2856771	0.85[EUR][1000 genomes]
rs289673	0.82[EUR][1000 genomes]
rs2904423	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35818743	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4305040	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4780417	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4780418	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4780419	0.87[EUR][1000 genomes]
rs4780422	0.83[EUR][1000 genomes]
rs4781200	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4781201	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4781202	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4781209	0.80[EUR][1000 genomes]
rs62039994	0.80[EUR][1000 genomes]
rs6498274	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6498278	0.80[EUR][1000 genomes]
rs6498279	0.80[EUR][1000 genomes]
rs7189386	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7189945	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7190509	0.80[EUR][1000 genomes]
rs7191442	0.93[EUR][1000 genomes]
rs7192102	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7194718	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7194981	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7195520	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7197417	0.92[EUR][1000 genomes]
rs7199556	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7200289	0.87[EUR][1000 genomes]
rs7204209	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7204333	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7500910	0.86[EUR][1000 genomes]
rs8046012	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8051758	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8058876	0.81[EUR][1000 genomes]
rs8061549	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8063991	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs868773	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs869289	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs905950	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9630612	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9921728	0.84[EUR][1000 genomes]
rs9927705	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9928214	0.83[EUR][1000 genomes]
rs9930625	0.83[EUR][1000 genomes]
rs9937220	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:12330800-12373000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
5	chr16:12347800-12395200	Weak transcription	Right Ventricle	heart
6	chr16:12351200-12373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:12351200-12382800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:12354800-12382800	Weak transcription	Gastric	stomach
9	chr16:12355200-12372000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:12356000-12390200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:12356400-12378000	Weak transcription	Spleen	Spleen
12	chr16:12356600-12372800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:12356800-12373000	Weak transcription	Fetal Intestine Small	intestine
14	chr16:12356800-12373000	Weak transcription	Fetal Stomach	stomach
15	chr16:12357200-12383000	Weak transcription	Esophagus	oesophagus
16	chr16:12357400-12373000	Weak transcription	Liver	Liver
17	chr16:12358600-12373200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:12359200-12377400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:12359400-12380800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:12361200-12372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:12361800-12383000	Weak transcription	Fetal Muscle Leg	muscle
23	chr16:12362000-12374600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:12362000-12382600	Weak transcription	Placenta	Placenta
25	chr16:12365200-12374000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:12365200-12374200	Weak transcription	HSMM	muscle
27	chr16:12365200-12378000	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:12365200-12379200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:12365200-12382200	Weak transcription	Left Ventricle	heart
30	chr16:12365200-12388000	Weak transcription	Pancreas	Pancrea
31	chr16:12365200-12388400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:12366400-12384000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:12369000-12375600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr16:12369400-12377600	Weak transcription	HepG2	liver
35	chr16:12369800-12383200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr16:12370000-12378000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr16:12370400-12374800	Strong transcription	Primary T cells from cord blood	blood
38	chr16:12370400-12375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:12370400-12383600	Weak transcription	Colon Smooth Muscle	Colon
40	chr16:12370600-12373600	Weak transcription	Lung	lung
41	chr16:12370800-12372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:12370800-12376400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr16:12371000-12373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr16:12371200-12372800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr16:12371200-12373000	Weak transcription	Ovary	ovary
46	chr16:12371200-12373600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr16:12371200-12376400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:12371200-12383000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:12371400-12375600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:12371400-12375800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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