Variant report

Variant	rs16829488
Chromosome Location	chr2:188851710-188851711
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188848430..188852536-chr2:188854164..188857250,4	K562	blood:
2	chr2:188848294..188849796-chr2:188850088..188853065,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16829367	1.00[EUR][1000 genomes]
rs16829439	0.91[AFR][1000 genomes]
rs16829836	1.00[EUR][1000 genomes]
rs16829866	1.00[EUR][1000 genomes]
rs56787383	1.00[EUR][1000 genomes]
rs57982880	1.00[EUR][1000 genomes]
rs58572931	1.00[EUR][1000 genomes]
rs58765845	1.00[EUR][1000 genomes]
rs60483729	1.00[EUR][1000 genomes]
rs61163899	1.00[EUR][1000 genomes]
rs6757707	1.00[EUR][1000 genomes]
rs73037622	0.91[AFR][1000 genomes]
rs73037627	0.92[AFR][1000 genomes]
rs73037634	0.94[AFR][1000 genomes]
rs73037640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037651	1.00[EUR][1000 genomes]
rs73039667	1.00[EUR][1000 genomes]
rs73039680	1.00[EUR][1000 genomes]
rs73039697	1.00[EUR][1000 genomes]
rs73039700	1.00[EUR][1000 genomes]
rs73041610	1.00[EUR][1000 genomes]
rs73041636	1.00[EUR][1000 genomes]
rs7599101	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188848600-188852600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:188849000-188853200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:188850000-188851800	Enhancers	A549	lung
4	chr2:188850000-188855600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:188850400-188852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:188850400-188852200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:188850400-188852600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:188850400-188860600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:188850600-188852000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:188850600-188852000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:188850600-188852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:188850600-188852600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:188850800-188851800	Enhancers	HMEC	breast
14	chr2:188850800-188852000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:188850800-188852000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:188850800-188852200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:188850800-188852200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:188851000-188851800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:188851000-188851800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:188851000-188854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:188851200-188851800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:188851200-188851800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:188851200-188851800	Enhancers	HUVEC	blood vessel
24	chr2:188851200-188852200	Enhancers	NHEK	skin
25	chr2:188851200-188852800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:188851200-188854600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:188851400-188852000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:188851600-188852000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:188851600-188852600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:188851600-188853200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:188851600-188853200	Weak transcription	GM12878-XiMat	blood
32	chr2:188851600-188854000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:188851600-188858400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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