Variant report

Variant	rs2941085
Chromosome Location	chr16:12325808-12325809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1701134	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1704137	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2941081	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2941082	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs830715	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs830717	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs830718	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs830719	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830720	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830727	0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs830735	0.81[EUR][1000 genomes]
rs864935	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12297400-12353800	Weak transcription	Gastric	stomach
2	chr16:12306400-12330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr16:12310600-12328600	Weak transcription	Aorta	Aorta
6	chr16:12311800-12333400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:12313800-12329800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:12314000-12329000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:12319400-12327800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:12319600-12327600	Weak transcription	GM12878-XiMat	blood
11	chr16:12319800-12328600	Weak transcription	Brain Angular Gyrus	brain
12	chr16:12320200-12332600	Weak transcription	Brain Germinal Matrix	brain
13	chr16:12321800-12327000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:12322000-12326400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12322000-12326600	Enhancers	NHDF-Ad	bronchial
16	chr16:12322200-12326800	Enhancers	NHLF	lung
17	chr16:12322400-12338000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr16:12322600-12353600	Weak transcription	Lung	lung
19	chr16:12323000-12326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:12323000-12326200	Enhancers	NH-A	brain
21	chr16:12323000-12328600	Weak transcription	Adipose Nuclei	Adipose
22	chr16:12323000-12328600	Weak transcription	Right Ventricle	heart
23	chr16:12323000-12330000	Weak transcription	Primary T cells from cord blood	blood
24	chr16:12323000-12330400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:12323000-12330600	Weak transcription	Spleen	Spleen
26	chr16:12323000-12348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:12323200-12327800	Strong transcription	Primary B cells from cord blood	blood
28	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr16:12323800-12328600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:12323800-12328600	Weak transcription	Left Ventricle	heart
31	chr16:12323800-12330400	Weak transcription	Thymus	Thymus
32	chr16:12323800-12332600	Weak transcription	Esophagus	oesophagus
33	chr16:12323800-12332600	Weak transcription	Pancreas	Pancrea
34	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr16:12324400-12326800	Enhancers	HepG2	liver
36	chr16:12324400-12327400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:12324400-12328000	Weak transcription	Brain Substantia Nigra	brain
38	chr16:12324400-12328200	Weak transcription	Brain Anterior Caudate	brain
39	chr16:12324400-12328400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr16:12324400-12328800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:12324400-12330000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:12324400-12330200	Weak transcription	Fetal Kidney	kidney
43	chr16:12324400-12332800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:12324400-12340600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr16:12324600-12327600	Weak transcription	Fetal Brain Female	brain
46	chr16:12324600-12328600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:12324600-12328600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:12324600-12328600	Weak transcription	Ovary	ovary
49	chr16:12324600-12329000	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:12324600-12334400	Weak transcription	Fetal Intestine Large	intestine

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