Variant report

Variant	rs16853193
Chromosome Location	chr2:168051530-168051531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10497319	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1159502	1.00[AFR][1000 genomes]
rs12621191	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16853041	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16853054	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16853083	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16853357	1.00[AFR][1000 genomes]
rs4613243	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57654594	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59091135	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59955159	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60956823	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168039000-168053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:168045000-168053000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:168045400-168052600	Weak transcription	Fetal Lung	lung
4	chr2:168045400-168053200	Weak transcription	Fetal Brain Female	brain
5	chr2:168045600-168053000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:168045800-168051600	Weak transcription	Fetal Heart	heart
7	chr2:168046800-168052000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:168047000-168053000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:168048400-168052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:168049400-168052000	Weak transcription	Psoas Muscle	Psoas
11	chr2:168049400-168052800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:168049600-168052200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:168049600-168052800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:168049600-168078800	Weak transcription	Right Ventricle	heart
15	chr2:168050000-168052800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:168050000-168052800	Weak transcription	NHLF	lung
17	chr2:168050000-168053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:168050000-168053000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:168050000-168053000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:168050000-168053000	Weak transcription	NH-A	brain
21	chr2:168050200-168051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:168050200-168052200	Weak transcription	Left Ventricle	heart
23	chr2:168050200-168052800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:168050200-168052800	Weak transcription	Right Atrium	heart
25	chr2:168050200-168052800	Weak transcription	NHDF-Ad	bronchial
26	chr2:168050200-168053000	Weak transcription	HMEC	breast
27	chr2:168050200-168053000	Weak transcription	HSMM	muscle
28	chr2:168050200-168053000	Weak transcription	HSMMtube	muscle
29	chr2:168050200-168053000	Weak transcription	Osteobl	bone
30	chr2:168050800-168053600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:168051000-168052600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:168051000-168052800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:168051000-168053000	Enhancers	Primary hematopoietic stem cells	blood

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