Variant report

Variant	rs1048026
Chromosome Location	chr2:179973467-179973468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10497533	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497534	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11892241	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11900884	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866665	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866673	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17363183	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363246	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363323	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17363393	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17363449	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17363603	1.00[AFR][1000 genomes]
rs17453976	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454024	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454108	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454150	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17454164	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17454192	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17454458	1.00[AFR][1000 genomes]
rs2008215	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2028906	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2305170	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731739	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816345	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4101465	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4499457	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58582728	1.00[AFR][1000 genomes]
rs60072979	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61179885	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433759	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433766	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6725309	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879539	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179961600-179974000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:179966400-179975600	Weak transcription	Aorta	Aorta
3	chr2:179967200-179976800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:179967800-179980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:179967800-179982400	Weak transcription	Fetal Brain Male	brain
6	chr2:179967800-180004400	Weak transcription	Esophagus	oesophagus
7	chr2:179969400-179980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:179970000-180004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:179970200-179991000	Weak transcription	Psoas Muscle	Psoas
10	chr2:179970400-179977000	Weak transcription	Lung	lung
11	chr2:179970600-179973800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:179970800-179985800	Strong transcription	Primary B cells from cord blood	blood
13	chr2:179970800-179987000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:179971000-179974000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179971200-179977600	Strong transcription	Fetal Lung	lung
16	chr2:179971200-179977800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:179971400-179979200	Weak transcription	Ovary	ovary
18	chr2:179971600-179974000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:179971600-179974200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:179971600-179974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:179971600-179977000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:179971600-179977000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:179971600-179977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:179971600-179979400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:179971600-179991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:179971600-180012600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:179971800-179978400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:179972000-179973800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:179972000-179974000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:179972000-179976800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:179972000-180005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:179972000-180005200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:179972200-179974200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:179972200-179982400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:179972400-179974000	Strong transcription	Fetal Brain Female	brain
36	chr2:179972400-179975800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:179972400-179977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:179972400-179979800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:179972400-179982200	Strong transcription	Liver	Liver
40	chr2:179972400-179985400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:179972400-179986800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr2:179972400-179987400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:179972600-179974000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:179972600-179974800	Strong transcription	Brain Anterior Caudate	brain
45	chr2:179972600-179974800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:179972600-179975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:179972600-179976800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:179972600-179977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:179972600-179977600	Strong transcription	Brain Germinal Matrix	brain
50	chr2:179972600-179979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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