Variant report

Variant	rs132550
Chromosome Location	chr22:29321008-29321009
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	chr22:29315873..29318298-chr22:29320072..29322086,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs132530	1.00[JPT][hapmap]
rs132535	0.90[ASN][1000 genomes]
rs132541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132546	0.88[EUR][1000 genomes];0.87[ASN][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];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132554	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]
rs132556	0.85[ASW][hapmap];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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986909	0.82[CHB][hapmap]
rs469988	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs5752844	0.83[ASN][1000 genomes]
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];0.86[EUR][1000 genomes];0.86[ASN][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];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs739197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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:67 , 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	chr22:29314600-29321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:29315200-29326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29315800-29325000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:29316400-29322600	Enhancers	Fetal Lung	lung
7	chr22:29316600-29322600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:29317200-29322000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29317600-29321800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:29317600-29325400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:29317800-29321200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:29317800-29321400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:29317800-29329400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:29318200-29326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:29318600-29321600	Enhancers	Fetal Intestine Small	intestine
16	chr22:29318600-29322000	Enhancers	Fetal Intestine Large	intestine
17	chr22:29318600-29322200	Enhancers	Fetal Kidney	kidney
18	chr22:29319000-29321200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:29319400-29326200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:29320000-29321200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:29320000-29321400	Weak transcription	Right Atrium	heart
22	chr22:29320000-29321600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:29320000-29322200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr22:29320000-29322400	Enhancers	Liver	Liver
25	chr22:29320200-29321200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:29320200-29322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr22:29320200-29322200	Enhancers	Brain Anterior Caudate	brain
28	chr22:29320200-29326400	Weak transcription	Aorta	Aorta
29	chr22:29320200-29326400	Weak transcription	Left Ventricle	heart
30	chr22:29320400-29321600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:29320400-29321800	Enhancers	Brain Hippocampus Middle	brain
32	chr22:29320400-29321800	Weak transcription	HMEC	breast
33	chr22:29320400-29322000	Enhancers	NHEK	skin
34	chr22:29320400-29322400	Genic enhancers	HepG2	liver
35	chr22:29320400-29322800	Weak transcription	Fetal Stomach	stomach
36	chr22:29320400-29323000	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:29320400-29323600	Weak transcription	Brain Germinal Matrix	brain
38	chr22:29320400-29325200	Weak transcription	Gastric	stomach
39	chr22:29320400-29325800	Weak transcription	A549	lung
40	chr22:29320400-29326400	Weak transcription	Fetal Heart	heart
41	chr22:29320400-29326600	Weak transcription	Brain Angular Gyrus	brain
42	chr22:29320400-29328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr22:29320600-29321400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:29320600-29321600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:29320600-29321800	Weak transcription	Ovary	ovary
46	chr22:29320600-29322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:29320600-29322400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr22:29320600-29323400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr22:29320600-29323800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:29320600-29325200	Weak transcription	Lung	lung

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