Variant report

Variant	rs1704137
Chromosome Location	chr16:12325128-12325129
allele	C/T
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:11)

rs_ID	r²[population]
rs1701134	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941081	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2941082	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2941085	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs830715	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs830717	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs830718	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs830719	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs830720	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs830727	0.81[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs864935	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[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:67 , 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	chr16:12321200-12325200	Weak transcription	HSMMtube	muscle
14	chr16:12321800-12325200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:12321800-12327000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:12322000-12325400	Weak transcription	HSMM	muscle
17	chr16:12322000-12326400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:12322000-12326600	Enhancers	NHDF-Ad	bronchial
19	chr16:12322200-12326800	Enhancers	NHLF	lung
20	chr16:12322400-12325800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr16:12322400-12338000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:12322600-12353600	Weak transcription	Lung	lung
23	chr16:12323000-12325400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:12323000-12326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:12323000-12326200	Enhancers	NH-A	brain
26	chr16:12323000-12328600	Weak transcription	Adipose Nuclei	Adipose
27	chr16:12323000-12328600	Weak transcription	Right Ventricle	heart
28	chr16:12323000-12330000	Weak transcription	Primary T cells from cord blood	blood
29	chr16:12323000-12330400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:12323000-12330600	Weak transcription	Spleen	Spleen
31	chr16:12323000-12348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:12323200-12327800	Strong transcription	Primary B cells from cord blood	blood
33	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:12323600-12325600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr16:12323800-12328600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr16:12323800-12328600	Weak transcription	Left Ventricle	heart
37	chr16:12323800-12330400	Weak transcription	Thymus	Thymus
38	chr16:12323800-12332600	Weak transcription	Esophagus	oesophagus
39	chr16:12323800-12332600	Weak transcription	Pancreas	Pancrea
40	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr16:12324200-12325200	Weak transcription	NHEK	skin
42	chr16:12324200-12325400	Weak transcription	A549	lung
43	chr16:12324400-12325800	Weak transcription	Brain Hippocampus Middle	brain
44	chr16:12324400-12326800	Enhancers	HepG2	liver
45	chr16:12324400-12327400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:12324400-12328000	Weak transcription	Brain Substantia Nigra	brain
47	chr16:12324400-12328200	Weak transcription	Brain Anterior Caudate	brain
48	chr16:12324400-12328400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr16:12324400-12328800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:12324400-12330000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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