Variant report

Variant	rs73168706
Chromosome Location	chr22:32785859-32785860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32162110-32166713..22:32784733-32787968	Hela-S3	cervix:
2	22:32292186-32294405..22:32784733-32787968	K562	blood:
3	22:32477762-32487457..22:32784733-32787968	Hela-S3	cervix:
4	22:32170492-32188129..22:32784733-32787968	K562	blood:
5	22:32784733-32787968..22:33452523-33459358	Hela-S3	cervix:
6	22:31836635-31847259..22:32784733-32787968	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000100170	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11913228	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913841	1.00[ASN][1000 genomes]
rs16990376	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142721	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418991	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28630758	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304681	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307235	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55744002	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55878163	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55938437	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56101849	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150811	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317784	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57570397	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57649686	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57787050	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58316160	0.92[ASN][1000 genomes]
rs73166332	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73166337	0.81[ASN][1000 genomes]
rs73166340	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73166348	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73166368	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166369	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166401	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168710	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170318	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73170319	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73400811	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742097	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609518	1.00[ASN][1000 genomes]
rs9619260	0.83[ASN][1000 genomes]
rs9621427	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680823	1.00[EUR][1000 genomes];1.00[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	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
2	chr22:32777200-32793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32780000-32790400	Weak transcription	Fetal Brain Male	brain
4	chr22:32780800-32789000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:32781200-32787000	Strong transcription	Primary T cells from cord blood	blood
8	chr22:32781200-32793600	Strong transcription	Fetal Kidney	kidney
9	chr22:32781200-32798200	Strong transcription	Thymus	Thymus
10	chr22:32781200-32799200	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:32781200-32801200	Strong transcription	Fetal Stomach	stomach
12	chr22:32781200-32802200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr22:32781200-32803200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr22:32781200-32804000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:32781200-32804200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr22:32781200-32804600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr22:32781200-32804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr22:32781200-32804800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:32781200-32805000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:32781200-32805400	Strong transcription	Fetal Muscle Leg	muscle
21	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:32781400-32786200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:32781400-32786200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr22:32781400-32786200	Strong transcription	Gastric	stomach
25	chr22:32781400-32786600	Strong transcription	Brain Germinal Matrix	brain
26	chr22:32781400-32786600	Strong transcription	A549	lung
27	chr22:32781400-32787400	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr22:32781400-32787400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:32781400-32787400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:32781400-32793000	Strong transcription	Fetal Intestine Small	intestine
31	chr22:32781400-32798200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:32781400-32798200	Strong transcription	Brain Anterior Caudate	brain
33	chr22:32781400-32798200	Strong transcription	NH-A	brain
34	chr22:32781400-32799200	Strong transcription	Lung	lung
35	chr22:32781400-32801200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:32781400-32802600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr22:32781400-32802600	Strong transcription	GM12878-XiMat	blood
38	chr22:32781400-32802600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr22:32781400-32803200	Strong transcription	Adipose Nuclei	Adipose
40	chr22:32781400-32803200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr22:32781400-32803600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr22:32781400-32803800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:32781400-32803800	Strong transcription	Liver	Liver
44	chr22:32781400-32804400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr22:32781400-32804600	Strong transcription	Fetal Thymus	thymus
46	chr22:32781400-32804600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr22:32781400-32804600	Strong transcription	Dnd41	blood
48	chr22:32781400-32804800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:32781400-32804800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr22:32781400-32804800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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