Variant report

Variant	rs35619990
Chromosome Location	chr16:71949266-71949267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11075910	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12444594	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12708918	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12708919	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17286411	0.98[AFR][1000 genomes]
rs1834036	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2288030	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788450	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4788561	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4788568	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788569	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788575	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4788579	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8044004	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8044335	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9932707	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71930800-71950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71930800-71951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:71931000-71949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:71931000-71949600	Weak transcription	NHEK	skin
5	chr16:71931200-71949800	Weak transcription	Esophagus	oesophagus
6	chr16:71931200-71950000	Weak transcription	HMEC	breast
7	chr16:71931200-71956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:71931400-71949400	Weak transcription	Fetal Kidney	kidney
9	chr16:71932600-71951800	Weak transcription	Colonic Mucosa	Colon
10	chr16:71933400-71950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:71934200-71949600	Weak transcription	Placenta	Placenta
12	chr16:71934400-71951000	Weak transcription	Fetal Brain Male	brain
13	chr16:71934600-71949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:71935200-71950200	Weak transcription	NHLF	lung
15	chr16:71937200-71952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:71938000-71949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:71939200-71949800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:71940600-71950000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:71941000-71950000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:71941400-71950000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:71942200-71951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:71942200-71951600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:71943400-71949800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:71943400-71949800	Weak transcription	Lung	lung
25	chr16:71943400-71949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:71943400-71950000	Weak transcription	Gastric	stomach
27	chr16:71943400-71950200	Weak transcription	Fetal Brain Female	brain
28	chr16:71943600-71949400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr16:71943600-71949600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr16:71943600-71949800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:71943600-71949800	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:71943600-71950000	Weak transcription	Stomach Mucosa	stomach
33	chr16:71943600-71950200	Weak transcription	Brain Germinal Matrix	brain
34	chr16:71943800-71950000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr16:71944000-71950400	Weak transcription	Hela-S3	cervix
36	chr16:71944200-71949400	Weak transcription	Fetal Lung	lung
37	chr16:71944200-71949800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:71944200-71949800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:71944200-71949800	Weak transcription	Right Ventricle	heart
40	chr16:71944200-71949800	Weak transcription	NHDF-Ad	bronchial
41	chr16:71944400-71949800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:71944400-71949800	Enhancers	Liver	Liver
43	chr16:71944600-71949600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr16:71945200-71959000	Strong transcription	Primary T cells from cord blood	blood
45	chr16:71945600-71950000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:71946000-71949400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:71946000-71949400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:71946000-71949800	Weak transcription	Aorta	Aorta
49	chr16:71946000-71949800	Weak transcription	Pancreas	Pancrea
50	chr16:71946000-71949800	Weak transcription	Right Atrium	heart

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