Variant report

Variant	rs916096
Chromosome Location	chr16:12641791-12641792
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	chr16:12633130..12635327-chr16:12640812..12643626,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12929685	0.87[EUR][1000 genomes]
rs2561032	0.83[EUR][1000 genomes]
rs2561036	0.81[EUR][1000 genomes]
rs2561037	0.81[EUR][1000 genomes]
rs2856773	0.81[EUR][1000 genomes]
rs2856775	0.81[EUR][1000 genomes]
rs2859789	0.83[EUR][1000 genomes]
rs2865231	0.84[EUR][1000 genomes]
rs34295513	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34945677	0.92[EUR][1000 genomes]
rs35957798	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3830063	0.84[EUR][1000 genomes]
rs4287556	0.84[EUR][1000 genomes]
rs55793026	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338753	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062234	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916097	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916099	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv1054084	chr16:12625727-12650247	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv431433	chr16:12628409-12654408	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1842867	chr16:12632286-12678721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1039338	chr16:12632918-12642955	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1040887	chr16:12632918-12650247	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2751546	chr16:12635498-12674704	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1040358	chr16:12636982-12650247	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv15370	chr16:12641319-12641874	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv16384	chr16:12641319-12642939	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1050004	chr16:12641649-12654618	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625800-12643400	Weak transcription	Gastric	stomach
3	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
4	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
6	chr16:12633000-12646600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:12635000-12644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:12636000-12642600	Flanking Active TSS	GM12878-XiMat	blood
10	chr16:12637200-12642200	Enhancers	Spleen	Spleen
11	chr16:12637600-12641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:12637600-12642400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr16:12637600-12642800	Enhancers	Primary B cells from cord blood	blood
14	chr16:12638600-12643000	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:12638600-12644000	Weak transcription	Primary T cells from cord blood	blood
16	chr16:12638800-12645400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:12639200-12643000	Enhancers	Esophagus	oesophagus
18	chr16:12639400-12645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:12639400-12646800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:12639400-12659000	Weak transcription	Lung	lung
21	chr16:12639600-12645800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:12640000-12647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:12640200-12644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr16:12640600-12642000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr16:12640600-12642400	Enhancers	Fetal Thymus	thymus
26	chr16:12640600-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:12640800-12641800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr16:12640800-12641800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:12640800-12642800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:12641000-12641800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:12641000-12641800	Enhancers	HSMM	muscle
32	chr16:12641000-12642200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:12641000-12642200	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:12641000-12642200	Weak transcription	NHEK	skin
35	chr16:12641000-12643000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:12641200-12642000	Enhancers	HSMMtube	muscle
37	chr16:12641200-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:12641200-12646600	Weak transcription	Brain Substantia Nigra	brain
39	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:12641400-12642000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr16:12641400-12642200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:12641400-12643000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:12641400-12643600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:12641400-12644600	Weak transcription	Thymus	Thymus
45	chr16:12641600-12641800	Enhancers	Fetal Muscle Leg	muscle
46	chr16:12641600-12642000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr16:12641600-12642200	Enhancers	Brain Hippocampus Middle	brain
48	chr16:12641600-12642400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:12641600-12643400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr16:12641600-12646400	Enhancers	Primary T cells fromperipheralblood	blood

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