Variant report

Variant	rs16984638
Chromosome Location	chr22:27831008-27831009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:27823489..27825867-chr22:27829603..27831710,2	K562	blood:
2	chr22:27824367..27826325-chr22:27829603..27833358,3	K562	blood:
3	chr22:27777645..27778297-chr22:27830082..27831081,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs16984497	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs2008329	1.00[EUR][1000 genomes]
rs2065061	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs520634	1.00[CEU][hapmap]
rs521076	1.00[CEU][hapmap]
rs5752574	1.00[EUR][1000 genomes]
rs5762216	1.00[EUR][1000 genomes]
rs5762219	1.00[EUR][1000 genomes]
rs5762223	1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes]
rs6005462	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes]
rs6005473	1.00[EUR][1000 genomes]
rs6005474	1.00[EUR][1000 genomes]
rs6005475	1.00[EUR][1000 genomes]
rs6005478	1.00[EUR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	1.00[EUR][1000 genomes]
rs738564	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27825800-27831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:27827200-27831800	Weak transcription	Fetal Lung	lung
3	chr22:27829000-27831400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:27829200-27831400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:27829200-27833000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:27829200-27833000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:27829400-27831800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr22:27829400-27832600	Enhancers	Placenta	Placenta
9	chr22:27829400-27832800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:27829400-27833000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr22:27829600-27831600	Weak transcription	Ovary	ovary
12	chr22:27829600-27834000	Weak transcription	Right Atrium	heart
13	chr22:27829600-27834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:27829600-27844000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:27829800-27831400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:27829800-27831400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:27829800-27831400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:27829800-27834200	Weak transcription	Fetal Intestine Large	intestine
19	chr22:27830000-27831600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:27830000-27832200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:27830000-27833800	Weak transcription	Pancreas	Pancrea
22	chr22:27830000-27834000	Weak transcription	Fetal Intestine Small	intestine
23	chr22:27830200-27831200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:27830200-27832200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:27830200-27834000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:27830200-27834200	Weak transcription	NHEK	skin
27	chr22:27830600-27831200	Enhancers	Adipose Nuclei	Adipose
28	chr22:27830600-27831200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:27830800-27831200	Enhancers	Stomach Smooth Muscle	stomach
30	chr22:27830800-27831600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:27830800-27832600	Enhancers	Fetal Brain Male	brain
32	chr22:27831000-27831400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:27831000-27831400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr22:27831000-27832800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr22:27831000-27832800	Enhancers	Fetal Thymus	thymus
36	chr22:27831000-27833200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:27831000-27833200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr22:27831000-27834000	Weak transcription	Esophagus	oesophagus
39	chr22:27831000-27834000	Enhancers	Fetal Muscle Leg	muscle

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