Variant report

Variant	rs16853199
Chromosome Location	chr2:168053905-168053906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16853187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55844329	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58234151	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58530903	0.85[EUR][1000 genomes]
rs58784178	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58821409	0.85[EUR][1000 genomes]
rs59196742	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60016563	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60159463	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60543052	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60789884	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60851700	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60893609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61164055	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432978	0.85[EUR][1000 genomes]
rs73015953	0.85[EUR][1000 genomes]
rs73015970	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73019961	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73025714	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73027829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73027847	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73029714	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73970887	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7560840	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168049600-168078800	Weak transcription	Right Ventricle	heart
2	chr2:168051600-168056400	Enhancers	Fetal Heart	heart
3	chr2:168052000-168054000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:168052000-168054400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:168052000-168056400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:168052600-168054400	Enhancers	Fetal Lung	lung
7	chr2:168052800-168054000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:168052800-168054400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:168052800-168054400	Enhancers	Adipose Nuclei	Adipose
10	chr2:168053000-168054000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:168053000-168054000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:168053000-168054000	Enhancers	Liver	Liver
13	chr2:168053000-168054000	Enhancers	HMEC	breast
14	chr2:168053000-168054200	Enhancers	Colon Smooth Muscle	Colon
15	chr2:168053200-168055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:168053400-168054000	Weak transcription	Fetal Brain Female	brain
17	chr2:168053400-168056000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:168053400-168056600	Weak transcription	Left Ventricle	heart
19	chr2:168053400-168057800	Weak transcription	Gastric	stomach
20	chr2:168053600-168054600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:168053600-168056000	Weak transcription	Psoas Muscle	Psoas
22	chr2:168053600-168065800	Weak transcription	HSMMtube	muscle
23	chr2:168053800-168054000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:168053800-168054400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:168053800-168054600	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:168053800-168054600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:168053800-168054600	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:168053800-168054800	Weak transcription	NHLF	lung
29	chr2:168053800-168055000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:168053800-168057200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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