Variant report

Variant	rs9992118
Chromosome Location	chr4:147404980-147404981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10001383	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10011222	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10012310	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10017463	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10018860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10024266	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10026558	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10030464	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10032453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11100926	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11726588	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11726594	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11727219	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11734649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940327	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105153	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13110748	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13134417	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13134849	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13149918	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13151354	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13435029	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17769016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3849037	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3914627	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3914629	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4835037	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4835040	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4835307	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4835310	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4835312	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4835313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835315	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4835316	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537419	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6537421	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6537423	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6537424	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6537425	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537426	0.94[EUR][1000 genomes]
rs6812728	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6815417	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6816737	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6819042	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6829209	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6837453	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840496	0.85[AFR][1000 genomes]
rs6846498	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849958	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7435019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7437083	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7439061	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7439429	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7439492	0.85[ASN][1000 genomes]
rs7687182	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7687917	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9995307	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995820	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking 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	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147389200-147416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:147389200-147416400	Weak transcription	NHEK	skin
3	chr4:147389400-147407800	Weak transcription	Small Intestine	intestine
4	chr4:147394000-147405200	Weak transcription	Esophagus	oesophagus
5	chr4:147399400-147405200	Weak transcription	Left Ventricle	heart
6	chr4:147399800-147416400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:147402000-147406800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:147402000-147407400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr4:147402000-147409000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:147402600-147405000	Weak transcription	Aorta	Aorta
11	chr4:147402600-147405600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr4:147402600-147415400	Weak transcription	Gastric	stomach
13	chr4:147402800-147405200	Weak transcription	Fetal Stomach	stomach
14	chr4:147403000-147405200	Weak transcription	Pancreas	Pancrea
15	chr4:147403000-147405400	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr4:147403000-147409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:147403000-147415400	Weak transcription	Ovary	ovary
18	chr4:147403000-147422200	Weak transcription	Placenta	Placenta
19	chr4:147403000-147436200	Weak transcription	Lung	lung
20	chr4:147403200-147405400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:147403200-147409800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:147403400-147409800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:147403800-147405000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr4:147403800-147405400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr4:147403800-147405600	ZNF genes & repeats	Fetal Lung	lung
26	chr4:147403800-147424200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:147404000-147405000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:147404000-147405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:147404000-147405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:147404000-147405400	ZNF genes & repeats	Dnd41	blood
32	chr4:147404000-147406600	Weak transcription	Brain Germinal Matrix	brain
33	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
34	chr4:147404400-147408200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:147404600-147406400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:147404600-147410000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:147404800-147405200	Strong transcription	Liver	Liver
38	chr4:147404800-147420400	Weak transcription	Primary B cells from cord blood	blood

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