Variant report

Variant	rs12169126
Chromosome Location	chr22:29363926-29363927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29363426..29366355-chr22:29368106..29371113,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12627758	0.90[ASN][1000 genomes]
rs4823000	0.91[ASN][1000 genomes]
rs5752851	0.87[ASN][1000 genomes]
rs5762919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762925	0.82[AFR][1000 genomes]
rs5762930	0.89[AFR][1000 genomes]
rs5762931	0.86[AFR][1000 genomes]
rs61697201	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs725281	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8140640	0.91[ASN][1000 genomes]
rs974370	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29348200-29365000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr22:29349200-29365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:29349200-29371800	Weak transcription	HSMM	muscle
5	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
6	chr22:29354800-29364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:29354800-29365600	Weak transcription	Lung	lung
8	chr22:29355200-29365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:29355400-29364800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:29355400-29365000	Weak transcription	Right Atrium	heart
11	chr22:29355400-29365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:29355800-29364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:29356000-29365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:29356800-29366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:29357600-29364800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:29357800-29364800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:29358400-29369400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:29358600-29365000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:29358600-29365200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr22:29358800-29364800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:29358800-29372200	Weak transcription	Fetal Kidney	kidney
23	chr22:29359200-29372000	Weak transcription	Brain Substantia Nigra	brain
24	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
25	chr22:29359800-29372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:29360000-29364800	Weak transcription	Gastric	stomach
27	chr22:29360000-29365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:29360400-29364800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:29360600-29365000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:29360800-29364000	Weak transcription	Right Ventricle	heart
31	chr22:29360800-29364800	Weak transcription	Brain Anterior Caudate	brain
32	chr22:29361200-29364800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr22:29361200-29364800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:29361200-29364800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:29361200-29364800	Weak transcription	Psoas Muscle	Psoas
36	chr22:29361200-29365000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:29361200-29365000	Weak transcription	Pancreas	Pancrea
38	chr22:29361200-29365400	Weak transcription	Esophagus	oesophagus
39	chr22:29361200-29371600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:29361400-29364800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:29361600-29364800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:29361600-29364800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr22:29361600-29364800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr22:29361600-29364800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:29361600-29373000	Weak transcription	Fetal Intestine Small	intestine
46	chr22:29361600-29373000	Weak transcription	Ovary	ovary
47	chr22:29362000-29364800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:29362400-29365200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr22:29363200-29364600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:29363200-29364800	Enhancers	HepG2	liver

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