Variant report

Variant	rs5753733
Chromosome Location	chr22:32027922-32027923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32025198-32027926	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr22:32025483-32027992	IMR90	lung:	n/a	chr22:32027897-32027912
3	POLR2A	chr22:32019734-32028474	PBDE	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
4	chr22:32027036..32029342-chr22:32032143..32033844,2	MCF-7	breast:
5	22:32012966-32043914..22:32513817-32522138	K562	blood:
6	chr22:32026032..32028190-chr22:32055546..32059195,4	MCF-7	breast:
7	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
8	22:32012966-32043914..22:32665993-32670527	K562	blood:
9	chr22:31796576..31798824-chr22:32026967..32029510,2	K562	blood:
10	chr22:31971863..31974758-chr22:32025154..32029039,5	MCF-7	breast:
11	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
12	22:32012966-32043914..22:32529813-32538538	K562	blood:
13	chr22:32025758..32028730-chr22:32031717..32035857,4	K562	blood:
14	chr22:31795193..31796801-chr22:32026385..32029380,2	MCF-7	breast:
15	22:32012966-32043914..22:32846948-32860159	K562	blood:
16	chr22:31889712..31892682-chr22:32027808..32029644,2	MCF-7	breast:
17	chr22:31884998..31887254-chr22:32026687..32028800,2	K562	blood:
18	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
19	chr22:32026689..32028779-chr22:32033425..32035914,3	K562	blood:
20	chr22:32027217..32028828-chr22:32033884..32035485,2	MCF-7	breast:
21	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
22	chr22:31958875..31961811-chr22:32027409..32029066,2	MCF-7	breast:
23	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
PISD	TF binding region
ENSG00000184708	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12171042	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12627933	0.86[ASN][1000 genomes]
rs14034	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2006771	0.82[AFR][1000 genomes]
rs2236033	0.85[ASN][1000 genomes]
rs2295251	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749304	0.88[EUR][1000 genomes]
rs5753686	0.82[EUR][1000 genomes]
rs5753714	0.83[ASN][1000 genomes]
rs5753732	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5753734	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994415	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5998042	0.83[EUR][1000 genomes]
rs5998054	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7287937	0.83[AFR][1000 genomes]
rs7289075	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7291918	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs738684	0.87[ASN][1000 genomes]
rs761746	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs761747	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8461	0.90[AMR][1000 genomes]
rs9621279	0.81[EUR][1000 genomes]
rs9956	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][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	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32026800-32028000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:32027200-32028000	Enhancers	Primary B cells from peripheral blood	blood
3	chr22:32027200-32028000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:32027200-32042400	Weak transcription	A549	lung
5	chr22:32027200-32042600	Weak transcription	Thymus	Thymus
6	chr22:32027200-32043400	Weak transcription	Aorta	Aorta
7	chr22:32027400-32028000	Enhancers	Brain Angular Gyrus	brain
8	chr22:32027400-32028200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr22:32027400-32028400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:32027400-32028400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:32027400-32028400	Genic enhancers	Spleen	Spleen
12	chr22:32027400-32028800	Weak transcription	NHEK	skin
13	chr22:32027400-32029400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:32027400-32029400	Genic enhancers	Placenta	Placenta
15	chr22:32027400-32029800	Weak transcription	Liver	Liver
16	chr22:32027400-32029800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:32027400-32030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:32027400-32033600	Weak transcription	Fetal Kidney	kidney
19	chr22:32027400-32034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:32027400-32034000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:32027400-32042200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr22:32027400-32042800	Weak transcription	Fetal Lung	lung
23	chr22:32027600-32028000	Active TSS	Primary hematopoietic stem cells	blood
24	chr22:32027600-32028000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr22:32027600-32028000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:32027600-32028000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr22:32027600-32028000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:32027600-32028000	Weak transcription	Fetal Stomach	stomach
29	chr22:32027600-32028200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:32027600-32028200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:32027600-32028400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:32027600-32028400	Enhancers	Primary B cells from cord blood	blood
33	chr22:32027600-32028400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:32027600-32028400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:32027600-32029400	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr22:32027600-32029800	Weak transcription	Hela-S3	cervix
37	chr22:32027600-32030000	Genic enhancers	Fetal Intestine Small	intestine
38	chr22:32027600-32030000	Weak transcription	Stomach Mucosa	stomach
39	chr22:32027600-32030200	Weak transcription	HMEC	breast
40	chr22:32027600-32031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:32027600-32031800	Weak transcription	Psoas Muscle	Psoas
42	chr22:32027600-32033400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:32027600-32033400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:32027600-32033400	Weak transcription	Gastric	stomach
45	chr22:32027600-32033400	Weak transcription	Right Atrium	heart
46	chr22:32027600-32033600	Weak transcription	Brain Anterior Caudate	brain
47	chr22:32027600-32033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr22:32027600-32035600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr22:32027600-32035800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr22:32027600-32037000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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