Variant report

Variant	rs8044602
Chromosome Location	chr16:12846719-12846720
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	chr16:12840444..12842213-chr16:12843875..12846809,2	K562	blood:
2	chr16:12839491..12842213-chr16:12843875..12846809,3	K562	blood:

Variant related genes	Relation type
ENSG00000260378	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10852357	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11075153	0.93[ASN][1000 genomes]
rs11075154	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12443699	0.97[ASN][1000 genomes]
rs2865630	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2865631	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2865632	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4780473	0.85[ASN][1000 genomes]
rs7184792	0.93[ASN][1000 genomes]
rs8048866	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv1052892	chr16:12824219-12881078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv525286	chr16:12826785-12878592	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv571480	chr16:12826785-12878592	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv571481	chr16:12826785-12880446	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	esv2751549	chr16:12829006-12880446	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12824800-12847800	Weak transcription	Osteobl	bone
2	chr16:12826600-12851000	Weak transcription	Brain Angular Gyrus	brain
3	chr16:12834800-12873600	Weak transcription	Aorta	Aorta
4	chr16:12835600-12846800	Weak transcription	Liver	Liver
5	chr16:12835600-12848000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:12835600-12863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:12835600-12865200	Weak transcription	Ovary	ovary
8	chr16:12835600-12869800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:12835800-12851000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:12839000-12851400	Weak transcription	Spleen	Spleen
11	chr16:12839200-12848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:12839200-12852200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:12839200-12863600	Weak transcription	Fetal Intestine Large	intestine
14	chr16:12839200-12869000	Weak transcription	Primary B cells from cord blood	blood
15	chr16:12839400-12848800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:12839600-12847800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:12839600-12848800	Weak transcription	HSMM	muscle
18	chr16:12839600-12851600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:12839600-12854400	Weak transcription	Fetal Intestine Small	intestine
20	chr16:12839600-12865000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:12839600-12873600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:12839800-12847200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:12842000-12851200	Weak transcription	Fetal Brain Female	brain
24	chr16:12843000-12851600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:12843400-12847600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:12844400-12849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:12844800-12847200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr16:12845200-12851400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:12845600-12851200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:12845600-12851200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:12845800-12847200	Enhancers	HepG2	liver
32	chr16:12846000-12846800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr16:12846200-12846800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:12846200-12847200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:12846200-12848800	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:12846200-12850800	Weak transcription	Brain Substantia Nigra	brain
37	chr16:12846200-12851600	Weak transcription	K562	blood
38	chr16:12846400-12851000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr16:12846600-12847000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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