Variant report

Variant	rs16987147
Chromosome Location	chr22:29537965-29537966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs132273	1.00[ASN][1000 genomes]
rs16987043	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16987073	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16987081	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16987099	0.86[ASN][1000 genomes]
rs16987136	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16987139	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4429563	0.86[ASN][1000 genomes]
rs4508707	1.00[CHB][hapmap]
rs6519774	0.86[ASN][1000 genomes]
rs73882455	0.86[ASN][1000 genomes]
rs73882458	0.86[ASN][1000 genomes]
rs8141696	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs8141812	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs8142699	0.86[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	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
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29517200-29546200	Strong transcription	Dnd41	blood
4	chr22:29522400-29541600	Weak transcription	HMEC	breast
5	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
7	chr22:29525800-29544400	Weak transcription	NHLF	lung
8	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
9	chr22:29526200-29547000	Weak transcription	K562	blood
10	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
11	chr22:29528000-29539000	Strong transcription	Ovary	ovary
12	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
14	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
19	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:29532600-29538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29532800-29538600	Strong transcription	Left Ventricle	heart
23	chr22:29533000-29538000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:29533000-29543200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:29533000-29545600	Strong transcription	Fetal Intestine Large	intestine
26	chr22:29533200-29543200	Strong transcription	Fetal Stomach	stomach
27	chr22:29533400-29538400	Strong transcription	Colonic Mucosa	Colon
28	chr22:29533400-29538800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr22:29533400-29539400	Strong transcription	Brain Anterior Caudate	brain
30	chr22:29533600-29538000	Weak transcription	Colon Smooth Muscle	Colon
31	chr22:29533600-29538400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr22:29533600-29542400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr22:29533800-29538000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:29533800-29539800	Strong transcription	Brain Germinal Matrix	brain
35	chr22:29533800-29543600	Strong transcription	Fetal Brain Female	brain
36	chr22:29534600-29540600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:29534800-29538000	Weak transcription	NHDF-Ad	bronchial
38	chr22:29534800-29540400	Weak transcription	Gastric	stomach
39	chr22:29534800-29545600	Weak transcription	Aorta	Aorta
40	chr22:29535400-29540600	Weak transcription	NHEK	skin
41	chr22:29535600-29539400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:29535800-29538200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr22:29535800-29538600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr22:29535800-29538600	Strong transcription	Lung	lung
45	chr22:29535800-29538800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr22:29535800-29538800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:29536000-29538000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:29536000-29541000	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr22:29536200-29538000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:29536200-29538600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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