Variant report

Variant	rs16849875
Chromosome Location	chr1:224776820-224776821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12131256	1.00[CEU][hapmap]
rs12564263	0.81[CHB][hapmap]
rs16850015	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16850250	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[EUR][1000 genomes]
rs41271539	0.85[EUR][1000 genomes]
rs904505	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3442947	chr1:224776590-224780847	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224767400-224779600	Weak transcription	HMEC	breast
3	chr1:224767600-224779800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224767800-224780200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224768000-224780400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224768800-224779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:224775800-224777000	Enhancers	Fetal Brain Male	brain
8	chr1:224775800-224777600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:224775800-224777600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:224776000-224777400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:224776000-224777400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:224776000-224777400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:224776000-224777400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:224776000-224777600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:224776200-224777400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:224776200-224777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:224776400-224777200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:224776400-224777200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:224776400-224777200	Enhancers	HSMMtube	muscle
20	chr1:224776400-224777200	Enhancers	NHDF-Ad	bronchial
21	chr1:224776400-224777600	Enhancers	NH-A	brain
22	chr1:224776600-224777000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:224776600-224777400	Enhancers	Osteobl	bone
24	chr1:224776800-224777000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:224776800-224777000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:224776800-224777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:224776800-224780400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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