Variant report

Variant	rs73396257
Chromosome Location	chr22:31808263-31808264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31807204-31822350..22:31836635-31847259	K562	blood:
2	22:31807204-31822350..22:32292186-32294405	K562	blood:
3	22:31807204-31822350..22:32012966-32043914	K562	blood:
4	22:31807204-31822350..22:31978142-31983723	GM12878	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10483159	1.00[EUR][1000 genomes]
rs11089501	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089502	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089503	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11089504	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165685	1.00[EUR][1000 genomes]
rs12168242	1.00[EUR][1000 genomes]
rs12169794	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12484646	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12484775	1.00[EUR][1000 genomes]
rs12484966	1.00[EUR][1000 genomes]
rs12485176	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12485177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820958	1.00[EUR][1000 genomes]
rs17821132	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1859677	1.00[EUR][1000 genomes]
rs1968024	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073856	1.00[EUR][1000 genomes]
rs2073859	1.00[EUR][1000 genomes]
rs2073860	1.00[EUR][1000 genomes]
rs2073861	1.00[EUR][1000 genomes]
rs2158779	1.00[EUR][1000 genomes]
rs2240424	1.00[EUR][1000 genomes]
rs2267168	1.00[EUR][1000 genomes]
rs2273248	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283882	1.00[EUR][1000 genomes]
rs2295240	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28678535	1.00[EUR][1000 genomes]
rs28872513	1.00[EUR][1000 genomes]
rs35208364	0.84[AMR][1000 genomes]
rs3747153	1.00[EUR][1000 genomes]
rs3747154	1.00[EUR][1000 genomes]
rs3747155	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788434	1.00[EUR][1000 genomes]
rs5749233	1.00[EUR][1000 genomes]
rs5749236	1.00[EUR][1000 genomes]
rs5749239	1.00[EUR][1000 genomes]
rs5749240	1.00[EUR][1000 genomes]
rs5749247	1.00[EUR][1000 genomes]
rs5749252	1.00[EUR][1000 genomes]
rs5749255	1.00[EUR][1000 genomes]
rs5749258	1.00[EUR][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753506	1.00[EUR][1000 genomes]
rs5753509	1.00[EUR][1000 genomes]
rs5753511	1.00[EUR][1000 genomes]
rs5753512	1.00[EUR][1000 genomes]
rs5753513	1.00[EUR][1000 genomes]
rs5753516	1.00[EUR][1000 genomes]
rs5753519	1.00[EUR][1000 genomes]
rs5753525	1.00[EUR][1000 genomes]
rs5753526	1.00[EUR][1000 genomes]
rs5753527	1.00[EUR][1000 genomes]
rs5753529	1.00[EUR][1000 genomes]
rs5753532	1.00[EUR][1000 genomes]
rs5753534	1.00[EUR][1000 genomes]
rs5753535	1.00[EUR][1000 genomes]
rs5753540	1.00[EUR][1000 genomes]
rs5753555	1.00[EUR][1000 genomes]
rs5753556	1.00[EUR][1000 genomes]
rs5753566	1.00[EUR][1000 genomes]
rs5753569	1.00[EUR][1000 genomes]
rs5753571	1.00[EUR][1000 genomes]
rs5753572	1.00[EUR][1000 genomes]
rs58856347	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58915086	0.93[ASN][1000 genomes]
rs59416609	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7292620	1.00[EUR][1000 genomes]
rs9619178	1.00[EUR][1000 genomes]
rs9621215	1.00[EUR][1000 genomes]
rs9621220	1.00[EUR][1000 genomes]
rs9621226	1.00[EUR][1000 genomes]
rs9621236	1.00[EUR][1000 genomes]
rs9621247	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621252	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9621261	1.00[EUR][1000 genomes]
rs9621264	1.00[EUR][1000 genomes]
rs9621265	1.00[EUR][1000 genomes]
rs9621270	1.00[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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
3	chr22:31796800-31815800	Weak transcription	Psoas Muscle	Psoas
4	chr22:31796800-31822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31796800-31835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:31797000-31812800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:31797000-31832000	Strong transcription	Fetal Muscle Leg	muscle
8	chr22:31797000-31836600	Strong transcription	Placenta	Placenta
9	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:31797200-31812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:31797200-31812800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:31797200-31814000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:31797200-31817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr22:31797200-31826800	Strong transcription	Liver	Liver
16	chr22:31797200-31832600	Strong transcription	Fetal Intestine Small	intestine
17	chr22:31797200-31845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:31797200-31846200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr22:31797200-31846400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
21	chr22:31797400-31809200	Weak transcription	Pancreas	Pancrea
22	chr22:31797400-31812800	Strong transcription	Fetal Thymus	thymus
23	chr22:31797400-31813000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:31797400-31813000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:31797400-31821200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31797400-31846800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr22:31797600-31812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:31797600-31812800	Strong transcription	Adipose Nuclei	Adipose
29	chr22:31797600-31813000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr22:31797600-31813000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr22:31797600-31828000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:31797600-31835800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr22:31797800-31812600	Strong transcription	Osteobl	bone
34	chr22:31797800-31813000	Strong transcription	Primary T cells from cord blood	blood
35	chr22:31797800-31821600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:31797800-31832200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:31797800-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:31797800-31846800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr22:31798000-31813200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:31798000-31831800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:31798200-31812800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr22:31798200-31813000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:31798200-31827000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr22:31798200-31831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:31798400-31813000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:31798600-31812600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr22:31798600-31813000	Strong transcription	Lung	lung
48	chr22:31798600-31813000	Strong transcription	Thymus	Thymus
49	chr22:31798600-31821000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:31798800-31813000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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