Variant report

Variant	rs2091772
Chromosome Location	chr2:98468809-98468810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10176201	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10182941	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10200949	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10211231	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1071885	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123924	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123949	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123966	0.82[ASN][1000 genomes]
rs11690482	0.82[ASN][1000 genomes]
rs11888323	0.82[ASN][1000 genomes]
rs11899171	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12712123	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712174	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13003978	0.82[ASN][1000 genomes]
rs13006817	0.82[ASN][1000 genomes]
rs13010946	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13022778	0.82[ASN][1000 genomes]
rs13034644	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1317178	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13405546	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1466020	0.89[AMR][1000 genomes]
rs1466924	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1503200	0.82[ASN][1000 genomes]
rs1922280	0.88[ASN][1000 genomes]
rs1922282	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2100058	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2141862	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2309316	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309317	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2309356	0.80[ASN][1000 genomes]
rs3762593	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4274643	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4560167	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5865	0.83[ASN][1000 genomes]
rs6543108	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6543109	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543161	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6543177	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6543202	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6543210	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6707924	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6709571	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6710813	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6719556	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6723466	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6723653	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6744331	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748809	0.89[ASN][1000 genomes]
rs6748927	0.89[ASN][1000 genomes]
rs7558931	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7561104	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7562695	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7567397	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574437	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7577886	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7582664	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7598116	0.82[ASN][1000 genomes]
rs7605180	0.82[ASN][1000 genomes]
rs930607	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9308862	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs956696	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973416	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2091772	ANKRD36B	cis	Nerve Tibial	GTEx
rs2091772	TMEM131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98406400-98469200	Weak transcription	A549	lung
2	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
3	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
4	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:98428800-98485000	Weak transcription	NHLF	lung
6	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
8	chr2:98434400-98485800	Weak transcription	Lung	lung
9	chr2:98446000-98475000	Weak transcription	Gastric	stomach
10	chr2:98447800-98479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
13	chr2:98457000-98477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:98457000-98477400	Weak transcription	Esophagus	oesophagus
15	chr2:98457000-98478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:98457400-98485800	Weak transcription	Aorta	Aorta
19	chr2:98457600-98469000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:98457600-98475000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:98457600-98475000	Weak transcription	Fetal Stomach	stomach
22	chr2:98457600-98475000	Weak transcription	Pancreas	Pancrea
23	chr2:98457600-98475000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:98457600-98475000	Weak transcription	Spleen	Spleen
25	chr2:98457600-98475200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:98457600-98477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:98457600-98485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:98457800-98473600	Weak transcription	Left Ventricle	heart
29	chr2:98457800-98474800	Weak transcription	Adipose Nuclei	Adipose
30	chr2:98457800-98475000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:98457800-98475200	Weak transcription	Thymus	Thymus
32	chr2:98457800-98478000	Weak transcription	Colonic Mucosa	Colon
33	chr2:98457800-98485200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:98458000-98475000	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:98458200-98486000	Weak transcription	Ovary	ovary
36	chr2:98458200-98486800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:98458400-98475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:98458400-98475000	Weak transcription	Fetal Intestine Large	intestine
39	chr2:98458400-98478000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:98458600-98475000	Weak transcription	Dnd41	blood
41	chr2:98458600-98485600	Weak transcription	Placenta	Placenta
42	chr2:98459200-98477200	Weak transcription	Fetal Lung	lung
43	chr2:98459400-98469400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:98459400-98473200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:98459400-98485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:98459600-98475000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:98459800-98469000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:98459800-98470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:98459800-98475000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:98460000-98470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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