Variant report

Variant	rs209850
Chromosome Location	chr16:12409929-12409930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12407586..12410005-chr16:12412153..12414940,2	K562	blood:
2	chr16:12404079..12406298-chr16:12408481..12410395,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11075058	0.83[EUR][1000 genomes]
rs11075059	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641317	0.81[AMR][1000 genomes]
rs11645864	0.82[EUR][1000 genomes]
rs11648255	0.86[EUR][1000 genomes]
rs11648926	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11861914	0.81[EUR][1000 genomes]
rs12148953	0.82[EUR][1000 genomes]
rs12445263	0.81[EUR][1000 genomes]
rs12445569	0.83[EUR][1000 genomes]
rs12446650	0.81[EUR][1000 genomes]
rs12448443	0.85[EUR][1000 genomes]
rs16959318	0.84[EUR][1000 genomes]
rs176717	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17697005	0.81[EUR][1000 genomes]
rs17764604	0.81[EUR][1000 genomes]
rs2013951	0.81[AMR][1000 genomes]
rs209834	0.84[AMR][1000 genomes]
rs209835	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs209836	0.85[AMR][1000 genomes]
rs209839	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs209845	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs209846	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs209849	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209851	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs209853	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209854	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs209855	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs209856	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2856766	0.83[EUR][1000 genomes]
rs2856770	0.82[AMR][1000 genomes]
rs2856771	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs289673	0.87[EUR][1000 genomes]
rs31679	0.82[EUR][1000 genomes]
rs35818743	0.83[EUR][1000 genomes]
rs476267	0.85[EUR][1000 genomes]
rs4780418	0.81[EUR][1000 genomes]
rs4780419	0.86[EUR][1000 genomes]
rs4780422	0.88[EUR][1000 genomes]
rs4780423	0.82[EUR][1000 genomes]
rs4781200	0.81[EUR][1000 genomes]
rs4781201	0.83[EUR][1000 genomes]
rs4781202	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4781205	0.81[AMR][1000 genomes]
rs4781207	0.82[EUR][1000 genomes]
rs4781209	0.83[EUR][1000 genomes]
rs512286	0.85[AMR][1000 genomes]
rs544598	0.86[EUR][1000 genomes]
rs544673	0.85[AMR][1000 genomes]
rs62039994	0.83[EUR][1000 genomes]
rs6498278	0.83[EUR][1000 genomes]
rs6498279	0.83[EUR][1000 genomes]
rs7184477	0.87[EUR][1000 genomes]
rs7189386	0.80[EUR][1000 genomes]
rs7189945	0.85[EUR][1000 genomes]
rs7190509	0.83[EUR][1000 genomes]
rs7191442	0.83[EUR][1000 genomes]
rs7192102	0.80[EUR][1000 genomes]
rs7194981	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7197417	0.83[EUR][1000 genomes]
rs7199556	0.85[EUR][1000 genomes]
rs7200289	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7201621	0.87[EUR][1000 genomes]
rs7204209	0.81[EUR][1000 genomes]
rs7204333	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7500910	0.86[EUR][1000 genomes]
rs8046012	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8051010	0.81[AMR][1000 genomes]
rs8051758	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8061549	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8063991	0.82[EUR][1000 genomes]
rs868773	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs869289	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
3	chr16:12373400-12414200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr16:12374200-12417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12385800-12410800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:12395400-12413800	Weak transcription	Left Ventricle	heart
7	chr16:12395600-12417200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:12396000-12414800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr16:12396200-12414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:12396800-12416400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr16:12404000-12414800	Weak transcription	Thymus	Thymus
12	chr16:12404200-12427400	Weak transcription	Primary T cells from cord blood	blood
13	chr16:12404600-12413400	Weak transcription	Fetal Heart	heart
14	chr16:12405200-12411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:12405600-12410400	Weak transcription	Esophagus	oesophagus
16	chr16:12405600-12412800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:12405600-12413200	Weak transcription	Right Ventricle	heart
18	chr16:12405600-12426400	Weak transcription	Lung	lung
19	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
20	chr16:12405800-12413200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr16:12405800-12417800	Weak transcription	Adipose Nuclei	Adipose
22	chr16:12406200-12413200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:12407400-12410800	Enhancers	Primary B cells from peripheral blood	blood
24	chr16:12407400-12412200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:12407800-12410200	Enhancers	Gastric	stomach
26	chr16:12407800-12411600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:12407800-12412800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr16:12408000-12411800	Enhancers	NHEK	skin
29	chr16:12408200-12410000	Enhancers	Fetal Intestine Large	intestine
30	chr16:12408200-12410200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:12408200-12410600	Enhancers	Pancreas	Pancrea
32	chr16:12408200-12410800	Enhancers	Stomach Mucosa	stomach
33	chr16:12408200-12411400	Enhancers	GM12878-XiMat	blood
34	chr16:12408200-12411800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:12408200-12411800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr16:12408200-12412400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr16:12408400-12410000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr16:12408400-12411800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr16:12408600-12410200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr16:12408800-12410000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:12408800-12410000	Flanking Active TSS	A549	lung
42	chr16:12408800-12410200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:12408800-12417200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:12409000-12410000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:12409000-12410000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:12409000-12410000	Enhancers	Brain Germinal Matrix	brain
47	chr16:12409000-12410000	Flanking Active TSS	HepG2	liver
48	chr16:12409000-12410200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr16:12409000-12414000	Weak transcription	NHDF-Ad	bronchial
50	chr16:12409200-12410000	Enhancers	Liver	Liver

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