Variant report

Variant	rs132554
Chromosome Location	chr22:29325923-29325924
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	chr22:29325211..29329451-chr22:29330662..29333324,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs132530	1.00[JPT][hapmap]
rs132535	0.80[ASN][1000 genomes]
rs132541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs132546	0.89[EUR][1000 genomes]
rs132547	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs132550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs132551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs132556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16986909	0.82[CHB][hapmap]
rs469988	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs5762916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5762924	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs5762935	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs713892	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs739197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29315200-29326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29317800-29329400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:29318200-29326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:29319400-29326200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr22:29320200-29326400	Weak transcription	Aorta	Aorta
8	chr22:29320200-29326400	Weak transcription	Left Ventricle	heart
9	chr22:29320400-29326400	Weak transcription	Fetal Heart	heart
10	chr22:29320400-29326600	Weak transcription	Brain Angular Gyrus	brain
11	chr22:29320400-29328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:29320600-29326200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:29320600-29326400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:29320600-29326400	Weak transcription	Psoas Muscle	Psoas
15	chr22:29320600-29326400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:29320600-29326400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr22:29320600-29326600	Weak transcription	Fetal Brain Male	brain
18	chr22:29320600-29327600	Weak transcription	Esophagus	oesophagus
19	chr22:29320600-29330800	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:29320600-29332200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:29321000-29326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:29321000-29339600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:29321800-29326400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:29322000-29326400	Weak transcription	Fetal Intestine Large	intestine
25	chr22:29322000-29336600	Weak transcription	NHEK	skin
26	chr22:29322200-29326400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:29322200-29326400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:29322200-29326400	Weak transcription	Brain Anterior Caudate	brain
29	chr22:29322200-29326400	Weak transcription	Ovary	ovary
30	chr22:29322200-29326400	Weak transcription	Right Atrium	heart
31	chr22:29322200-29326600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr22:29322200-29333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:29322400-29326600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr22:29322400-29329600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr22:29323600-29329400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr22:29324000-29326400	Weak transcription	Fetal Lung	lung
37	chr22:29324000-29326400	Weak transcription	Placenta	Placenta
38	chr22:29324000-29326400	Weak transcription	Pancreas	Pancrea
39	chr22:29324000-29335400	Weak transcription	Colon Smooth Muscle	Colon
40	chr22:29324200-29326200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr22:29324200-29326200	Weak transcription	K562	blood
42	chr22:29324200-29326400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:29324800-29329000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:29325000-29326800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:29325000-29327000	Enhancers	Brain Cingulate Gyrus	brain
46	chr22:29325000-29327800	Enhancers	HepG2	liver
47	chr22:29325200-29326800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr22:29325200-29327200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr22:29325200-29328600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:29325200-29328800	Enhancers	Gastric	stomach

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