Variant report

Variant	rs4486877
Chromosome Location	chr16:12834103-12834104
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10852355	0.93[AFR][1000 genomes]
rs10852357	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075149	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075150	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075154	0.84[AMR][1000 genomes]
rs12443699	0.84[AMR][1000 genomes]
rs1344167	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2865613	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2865616	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185373	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8060606	0.93[AFR][1000 genomes]
rs882908	0.87[ASN][1000 genomes]
rs9923473	0.89[ASN][1000 genomes]
rs9938529	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr16:12798600-12836800	Weak transcription	Placenta	Placenta
3	chr16:12818400-12834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:12824800-12847800	Weak transcription	Osteobl	bone
5	chr16:12826600-12851000	Weak transcription	Brain Angular Gyrus	brain
6	chr16:12826800-12836400	Weak transcription	Left Ventricle	heart
7	chr16:12826800-12836800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:12826800-12838400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:12826800-12844200	Weak transcription	HUVEC	blood vessel
10	chr16:12827000-12836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:12827000-12836800	Weak transcription	Brain Anterior Caudate	brain
12	chr16:12827000-12838400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:12827200-12835000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:12827600-12836800	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:12827800-12834600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:12827800-12835200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:12827800-12838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:12828000-12838400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:12828600-12835600	Strong transcription	Liver	Liver
20	chr16:12828600-12835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:12828800-12838000	Weak transcription	A549	lung
22	chr16:12829000-12836000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:12829000-12836800	Weak transcription	Lung	lung
24	chr16:12829000-12838000	Weak transcription	Esophagus	oesophagus
25	chr16:12829000-12838000	Weak transcription	Pancreas	Pancrea
26	chr16:12829000-12838200	Weak transcription	Fetal Intestine Small	intestine
27	chr16:12829000-12838400	Weak transcription	Spleen	Spleen
28	chr16:12829000-12838600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:12829000-12839800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:12830000-12838200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:12830000-12838800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:12830200-12834200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:12830200-12834800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:12830200-12836200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr16:12830600-12838200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:12831000-12837000	Strong transcription	HepG2	liver
37	chr16:12831400-12834800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:12831400-12835400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr16:12831400-12835600	Strong transcription	HSMM	muscle
40	chr16:12831800-12837200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:12832000-12838200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:12832000-12838600	Weak transcription	Fetal Intestine Large	intestine
43	chr16:12832600-12835800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr16:12832600-12837400	Weak transcription	Brain Substantia Nigra	brain
45	chr16:12832800-12835400	Strong transcription	Primary B cells from cord blood	blood
46	chr16:12832800-12836600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:12833200-12834400	Weak transcription	Ovary	ovary
48	chr16:12833400-12834800	Strong transcription	Aorta	Aorta
49	chr16:12833400-12835000	Strong transcription	Colonic Mucosa	Colon
50	chr16:12833400-12835800	Strong transcription	Duodenum Mucosa	Duodenum

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