Variant report

Variant	rs16987316
Chromosome Location	chr22:29643294-29643295
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	chr22:29640165..29643423-chr22:29644673..29648917,5	K562	blood:
2	chr22:29473166..29474828-chr22:29640994..29643456,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4547624	1.00[ASN][1000 genomes]
rs6519779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8139265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8142085	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8143132	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
4	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
5	chr22:29629600-29655400	Weak transcription	Liver	Liver
6	chr22:29629600-29655400	Weak transcription	Gastric	stomach
7	chr22:29633600-29654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:29634600-29655200	Weak transcription	Brain Angular Gyrus	brain
9	chr22:29638400-29655200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:29639000-29655200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:29639400-29654200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:29639800-29656400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:29640200-29650200	Weak transcription	Brain Germinal Matrix	brain
14	chr22:29640400-29651200	Weak transcription	Lung	lung
15	chr22:29641400-29643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29641600-29646400	Strong transcription	Fetal Lung	lung
17	chr22:29641600-29646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:29641600-29648400	Weak transcription	Fetal Brain Male	brain
19	chr22:29641600-29655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:29641600-29659800	Weak transcription	Ovary	ovary
21	chr22:29641600-29661800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:29641800-29657800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:29642000-29643600	Strong transcription	Fetal Kidney	kidney
24	chr22:29642000-29643600	Strong transcription	Dnd41	blood
25	chr22:29642000-29650200	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:29642000-29659600	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:29642200-29651200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr22:29642200-29659800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr22:29642400-29644600	Weak transcription	Fetal Brain Female	brain
30	chr22:29642400-29647600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr22:29642600-29648400	Weak transcription	Fetal Intestine Large	intestine
32	chr22:29642600-29649800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:29642600-29662400	Strong transcription	Fetal Intestine Small	intestine
34	chr22:29643200-29643600	Strong transcription	Spleen	Spleen
35	chr22:29643200-29645800	Weak transcription	Fetal Stomach	stomach

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