Variant report

Variant	rs2281157
Chromosome Location	chr22:29639192-29639193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29638508..29640700-chr22:29653710..29656559,2	K562	blood:
2	chr22:29433708..29435584-chr22:29637138..29639967,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1003703	0.84[CHD][hapmap]
rs2744464	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35269245	0.82[ASN][1000 genomes]
rs4261808	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4369969	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4369970	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820801	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs4823023	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4823024	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752882	0.82[EUR][1000 genomes]
rs5752890	0.87[CHD][hapmap];0.86[ASN][1000 genomes]
rs5752894	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763096	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763099	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5763100	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5763101	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5763102	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5763103	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5763104	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6006082	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6519781	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs738436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909794	0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs909797	0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv275243	chr22:29638470-29642365	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 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	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29628400-29641200	Weak transcription	Fetal Brain Male	brain
6	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
7	chr22:29629600-29655400	Weak transcription	Liver	Liver
8	chr22:29629600-29655400	Weak transcription	Gastric	stomach
9	chr22:29630200-29639400	Weak transcription	Ovary	ovary
10	chr22:29630200-29641400	Weak transcription	Pancreas	Pancrea
11	chr22:29630600-29639400	Weak transcription	Spleen	Spleen
12	chr22:29633600-29654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:29634600-29655200	Weak transcription	Brain Angular Gyrus	brain
14	chr22:29634800-29639800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr22:29634800-29640400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29634800-29641200	Strong transcription	Fetal Intestine Large	intestine
17	chr22:29635800-29639400	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29636400-29641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:29636600-29640400	Strong transcription	Fetal Brain Female	brain
20	chr22:29637400-29639800	Weak transcription	Thymus	Thymus
21	chr22:29637800-29639200	ZNF genes & repeats	Dnd41	blood
22	chr22:29638400-29639400	Weak transcription	Lung	lung
23	chr22:29638400-29641000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:29638400-29641000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:29638400-29655200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr22:29638600-29640400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr22:29638600-29640400	Strong transcription	Fetal Kidney	kidney
28	chr22:29638600-29641200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:29638800-29641200	Strong transcription	Fetal Lung	lung
30	chr22:29639000-29639200	ZNF genes & repeats	Fetal Stomach	stomach
31	chr22:29639000-29639400	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:29639000-29641200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:29639000-29641200	Strong transcription	Fetal Intestine Small	intestine
34	chr22:29639000-29655200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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