Variant report

Variant	rs56946080
Chromosome Location	chr22:32786761-32786762
allele	A/C
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
ENSG00000100150	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs13110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16990340	1.00[AMR][1000 genomes]
rs16990363	1.00[AMR][1000 genomes]
rs35003092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55726161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56005103	0.90[AFR][1000 genomes]
rs56088001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56164445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56241612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56257111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56273567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56300131	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56304230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393759	1.00[AMR][1000 genomes]
rs56835150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56870764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57040236	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57313377	1.00[AFR][1000 genomes]
rs57467712	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5749414	0.85[AFR][1000 genomes]
rs57526188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57670657	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58329990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58406751	0.90[AFR][1000 genomes]
rs58747874	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58917959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59272508	0.88[AFR][1000 genomes]
rs59540071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59540535	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59814970	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998441	1.00[AMR][1000 genomes]
rs60284718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60614590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61036457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61060987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61702109	1.00[AMR][1000 genomes]
rs7284713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7284743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7285750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7288743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7290295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881645	1.00[AMR][1000 genomes]
rs73881659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881684	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881701	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139487	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8141096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8141141	0.84[AFR][1000 genomes];1.00[AMR][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	chr22:32781400-32787400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr22:32781400-32787400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:32781400-32787400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:32781400-32793000	Strong transcription	Fetal Intestine Small	intestine
26	chr22:32781400-32798200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:32781400-32798200	Strong transcription	Brain Anterior Caudate	brain
28	chr22:32781400-32798200	Strong transcription	NH-A	brain
29	chr22:32781400-32799200	Strong transcription	Lung	lung
30	chr22:32781400-32801200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:32781400-32802600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr22:32781400-32802600	Strong transcription	GM12878-XiMat	blood
33	chr22:32781400-32802600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr22:32781400-32803200	Strong transcription	Adipose Nuclei	Adipose
35	chr22:32781400-32803200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr22:32781400-32803600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr22:32781400-32803800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:32781400-32803800	Strong transcription	Liver	Liver
39	chr22:32781400-32804400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr22:32781400-32804600	Strong transcription	Fetal Thymus	thymus
41	chr22:32781400-32804600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr22:32781400-32804600	Strong transcription	Dnd41	blood
43	chr22:32781400-32804800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr22:32781400-32804800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr22:32781400-32804800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:32781400-32804800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr22:32781400-32805000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:32781400-32805000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:32781400-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:32781400-32805000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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