Variant report

Variant	rs12165696
Chromosome Location	chr22:27872468-27872469
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:26)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs12159414	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]
rs16984638	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:5 , 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	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27869000-27873600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:27869200-27873000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr22:27869400-27873000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:27869400-27873400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:27869600-27873400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:27869800-27873400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:27869800-27873400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:27870000-27872800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:27870000-27873000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr22:27870000-27873000	Enhancers	HSMMtube	muscle
11	chr22:27870000-27873400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:27870200-27873000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:27870200-27873000	Enhancers	Osteobl	bone
14	chr22:27870400-27872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:27870600-27872800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:27870600-27873400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:27870600-27873400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:27870600-27878200	Weak transcription	Fetal Brain Male	brain
19	chr22:27870800-27872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:27870800-27873000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:27870800-27873000	Enhancers	NHDF-Ad	bronchial
22	chr22:27870800-27873000	Enhancers	NHLF	lung
23	chr22:27870800-27873200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:27870800-27873200	Enhancers	Hela-S3	cervix
25	chr22:27870800-27873600	Enhancers	Fetal Intestine Large	intestine
26	chr22:27870800-27873800	Enhancers	Fetal Intestine Small	intestine
27	chr22:27871000-27872800	Enhancers	HMEC	breast
28	chr22:27871000-27873600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr22:27871200-27872600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr22:27871200-27873000	Enhancers	Liver	Liver
31	chr22:27871200-27873000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr22:27871200-27873600	Flanking Active TSS	NHEK	skin
33	chr22:27871400-27873400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr22:27871400-27873400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:27871400-27873600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr22:27871400-27876000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:27871600-27872600	Enhancers	HUVEC	blood vessel
38	chr22:27871600-27873000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr22:27871600-27873200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:27871600-27873400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr22:27871600-27873400	Enhancers	NH-A	brain
42	chr22:27871600-27876400	Weak transcription	Pancreas	Pancrea
43	chr22:27871600-27878400	Weak transcription	Fetal Lung	lung
44	chr22:27871800-27873200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr22:27871800-27873400	Enhancers	A549	lung
46	chr22:27871800-27884600	Weak transcription	Right Atrium	heart
47	chr22:27872000-27872600	Bivalent Enhancer	HepG2	liver
48	chr22:27872000-27872800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:27872000-27872800	Enhancers	Esophagus	oesophagus
50	chr22:27872000-27872800	Weak transcription	Fetal Thymus	thymus

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