Variant report

Variant	rs9936004
Chromosome Location	chr16:48566088-48566089
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	chr16:48562124..48563950-chr16:48565271..48567910,2	K562	blood:

Extended variants
information (count: 164 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1039340	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039341	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039342	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039343	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039344	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106386	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11076570	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076571	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076572	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076573	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076578	0.81[EUR][1000 genomes]
rs1115758	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1115759	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1120275	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1120276	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11495819	0.82[EUR][1000 genomes]
rs11640119	0.85[ASN][1000 genomes]
rs11640463	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11641458	0.84[EUR][1000 genomes]
rs11641510	0.97[ASN][1000 genomes]
rs11643264	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11643272	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644518	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11645193	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647046	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647048	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11648101	0.80[EUR][1000 genomes]
rs11649236	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11859909	0.85[EUR][1000 genomes]
rs1224	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444902	0.84[ASN][1000 genomes]
rs12446280	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12597928	0.81[EUR][1000 genomes]
rs12598514	0.81[EUR][1000 genomes]
rs12933948	0.82[EUR][1000 genomes]
rs12935540	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13330784	0.86[ASN][1000 genomes]
rs13331298	0.84[ASN][1000 genomes]
rs13331902	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13332125	0.86[ASN][1000 genomes]
rs13335847	0.83[EUR][1000 genomes]
rs1386040	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1386042	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477134	0.81[EUR][1000 genomes]
rs1486411	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486412	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564979	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564980	0.82[EUR][1000 genomes]
rs16946342	0.85[EUR][1000 genomes]
rs17826468	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1825683	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872652	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1872654	0.84[EUR][1000 genomes]
rs1872655	0.84[EUR][1000 genomes]
rs1909765	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1987061	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041921	0.81[EUR][1000 genomes]
rs2080507	0.80[EUR][1000 genomes]
rs2080508	0.82[EUR][1000 genomes]
rs2101372	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2129243	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2354578	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2354579	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28432694	0.84[ASN][1000 genomes]
rs28481630	0.86[ASN][1000 genomes]
rs28577888	0.81[EUR][1000 genomes]
rs2883475	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2883641	0.84[ASN][1000 genomes]
rs34813315	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36077931	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743779	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743780	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817029	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826174	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843724	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3848319	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3848320	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3848321	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3848322	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4277341	0.83[ASN][1000 genomes]
rs4471681	0.84[ASN][1000 genomes]
rs4493038	0.82[EUR][1000 genomes]
rs4785247	0.83[EUR][1000 genomes]
rs4785248	0.83[EUR][1000 genomes]
rs4785528	0.82[EUR][1000 genomes]
rs55671623	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55782524	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57903644	0.83[ASN][1000 genomes]
rs61098261	0.81[ASN][1000 genomes]
rs6500395	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6500396	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6500397	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6500398	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6500405	0.82[EUR][1000 genomes]
rs7184070	0.83[EUR][1000 genomes]
rs7184144	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7185541	0.84[ASN][1000 genomes]
rs7187513	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188741	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191028	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191225	0.86[ASN][1000 genomes]
rs7192297	0.83[EUR][1000 genomes]
rs7194570	0.83[EUR][1000 genomes]
rs7195684	0.81[EUR][1000 genomes]
rs7196823	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197732	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198145	0.84[ASN][1000 genomes]
rs7198773	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7199206	0.82[EUR][1000 genomes]
rs7199625	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7201196	0.83[EUR][1000 genomes]
rs7204345	0.84[ASN][1000 genomes]
rs74017013	0.84[ASN][1000 genomes]
rs8044519	0.85[EUR][1000 genomes]
rs8050844	0.84[ASN][1000 genomes]
rs8052073	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8052640	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8053598	0.85[EUR][1000 genomes]
rs8057165	0.86[EUR][1000 genomes]
rs8057777	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058362	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8059819	0.81[EUR][1000 genomes]
rs8059905	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868792	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs871902	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924476	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs989070	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921737	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921741	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922356	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9922734	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923371	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923753	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9924078	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9924483	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9925406	0.84[EUR][1000 genomes]
rs9927888	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9928051	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9930199	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931123	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9931737	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9933187	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9933329	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9933976	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934626	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9934844	0.82[EUR][1000 genomes]
rs9936271	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936445	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936446	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9936454	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9937134	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937568	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9937610	0.84[EUR][1000 genomes]
rs9937623	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938126	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938308	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9938890	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9939103	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941275	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941336	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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 target site	38 gene(s)	inside rSNPs	diseases
2	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1064323	chr16:48531171-48573066	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1060196	chr16:48531171-48578101	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9936004	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48559200-48571600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:48559600-48570400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48561000-48569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:48561000-48569400	Weak transcription	Colonic Mucosa	Colon
5	chr16:48561000-48570200	Weak transcription	Fetal Intestine Small	intestine
6	chr16:48561000-48574400	Weak transcription	Fetal Intestine Large	intestine
7	chr16:48561000-48575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:48564000-48570400	Weak transcription	Thymus	Thymus
9	chr16:48564600-48566200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr16:48564800-48566600	Enhancers	Fetal Muscle Trunk	muscle
11	chr16:48564800-48566600	Enhancers	Fetal Muscle Leg	muscle
12	chr16:48565000-48566200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr16:48565000-48566200	Enhancers	HepG2	liver
14	chr16:48565000-48566400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:48565000-48566400	Enhancers	Psoas Muscle	Psoas
16	chr16:48565000-48566400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr16:48565200-48566200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:48565200-48566200	Enhancers	Fetal Lung	lung
19	chr16:48565200-48566200	Enhancers	NHLF	lung
20	chr16:48565200-48566400	Enhancers	Fetal Stomach	stomach
21	chr16:48565200-48566400	Enhancers	NHDF-Ad	bronchial
22	chr16:48565400-48566200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:48565400-48566200	Enhancers	Stomach Smooth Muscle	stomach
24	chr16:48565400-48568400	Weak transcription	Lung	lung
25	chr16:48565400-48569400	Weak transcription	Fetal Thymus	thymus
26	chr16:48565600-48566400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:48565600-48566400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:48565600-48566400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr16:48565600-48566400	Enhancers	Fetal Brain Male	brain
30	chr16:48565600-48566400	Enhancers	Stomach Mucosa	stomach
31	chr16:48565600-48573000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr16:48565800-48566200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:48565800-48566400	Enhancers	Ovary	ovary
34	chr16:48565800-48567600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:48565800-48568400	Weak transcription	Placenta	Placenta
36	chr16:48565800-48569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:48565800-48569000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:48565800-48569200	Weak transcription	HSMM	muscle
39	chr16:48565800-48569400	Weak transcription	Fetal Brain Female	brain
40	chr16:48565800-48569600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:48565800-48570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr16:48565800-48570800	Weak transcription	Gastric	stomach
43	chr16:48566000-48566200	Enhancers	Esophagus	oesophagus
44	chr16:48566000-48566400	Enhancers	Adipose Nuclei	Adipose
45	chr16:48566000-48568600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:48566000-48571800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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