Variant report

Variant	rs8142970
Chromosome Location	chr22:32534371-32534372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr22:32533880-32534373	GM12878	blood:	n/a	n/a
2	SP1	chr22:32533898-32534388	GM12878	blood:	n/a	n/a
3	PAX5	chr22:32533831-32534384	GM12878	blood:	n/a	n/a
4	EP300	chr22:32533976-32534394	GM12878	blood:	n/a	n/a
5	PAX5	chr22:32533712-32534449	GM12878	blood:	n/a	n/a
6	RUNX3	chr22:32533809-32534378	GM12878	blood:	n/a	n/a
7	POU2F2	chr22:32533732-32534486	GM12878	blood:	n/a	n/a
8	IRF1	chr22:32533773-32534532	K562	blood:	n/a	chr22:32534113-32534134
9	NFIC	chr22:32534023-32534442	GM12878	blood:	n/a	n/a
10	IRF4	chr22:32533650-32534396	GM12878	blood:	n/a	chr22:32534113-32534134
11	IRF4	chr22:32533702-32534372	GM12878	blood:	n/a	chr22:32534113-32534134
12	MYC	chr22:32533856-32534381	K562	blood:	n/a	n/a
13	RCOR1	chr22:32533856-32534384	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32529813-32538538..22:32740683-32750950	H1-hESC	embryonic stem cell:	embryo
2	22:32529813-32538538..22:32868055-32872511	K562	blood:
3	22:32529813-32538538..22:32878464-32886640	K562	blood:
4	22:32529813-32538538..22:32860159-32865649	GM12878	blood:
5	22:31836635-31847259..22:32529813-32538538	K562	blood:
6	22:32529813-32538538..22:32750950-32761732	K562	blood:
7	22:32012966-32043914..22:32529813-32538538	K562	blood:
8	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000239674	TF binding region
ENSG00000205853	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1076905	1.00[JPT][hapmap]
rs1076906	1.00[JPT][hapmap]
rs12160839	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2006233	1.00[JPT][hapmap]
rs2006253	1.00[JPT][hapmap]
rs5994471	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994472	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994473	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998234	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5998249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7287435	1.00[JPT][hapmap]
rs8138116	1.00[JPT][hapmap]
rs9606897	1.00[JPT][hapmap]
rs9606899	1.00[JPT][hapmap]
rs9606900	1.00[JPT][hapmap]
rs9606909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9606910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9606911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9609397	1.00[JPT][hapmap]
rs9609413	1.00[JPT][hapmap]
rs9609421	1.00[JPT][hapmap]
rs9609435	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9609438	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	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
7	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv962788	chr22:32528613-32537754	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32533000-32534400	Flanking Active TSS	Dnd41	blood
2	chr22:32533600-32534400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:32533600-32534400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr22:32533600-32534400	Active TSS	Esophagus	oesophagus
5	chr22:32533600-32534400	Active TSS	Rectal Smooth Muscle	rectum
6	chr22:32533600-32534400	Active TSS	Right Atrium	heart
7	chr22:32533600-32534400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
8	chr22:32533600-32534400	Bivalent/Poised TSS	HepG2	liver
9	chr22:32533600-32534400	Active TSS	HSMM	muscle
10	chr22:32533600-32534400	Active TSS	HSMMtube	muscle
11	chr22:32533600-32534600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr22:32533600-32534600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr22:32533600-32535000	Active TSS	A549	lung
14	chr22:32533800-32534400	Active TSS	Primary T cells from cord blood	blood
15	chr22:32533800-32534400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:32533800-32534400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:32533800-32534400	Active TSS	Colonic Mucosa	Colon
18	chr22:32533800-32534400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr22:32533800-32534400	Active TSS	Left Ventricle	heart
20	chr22:32533800-32534400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr22:32533800-32534400	Active TSS	Thymus	Thymus
22	chr22:32533800-32534600	Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr22:32533800-32534600	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr22:32533800-32534600	Active TSS	Duodenum Mucosa	Duodenum
25	chr22:32534000-32534400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr22:32534000-32534400	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr22:32534000-32534400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:32534000-32534400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:32534000-32534400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:32534000-32534400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr22:32534000-32534400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:32534000-32534400	Active TSS	Placenta	Placenta
33	chr22:32534000-32534400	Active TSS	Fetal Thymus	thymus
34	chr22:32534000-32534400	Active TSS	Gastric	stomach
35	chr22:32534000-32534400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr22:32534000-32534400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr22:32534000-32534400	Active TSS	Spleen	Spleen
38	chr22:32534000-32534400	Active TSS	NHEK	skin
39	chr22:32534000-32534400	Active TSS	NHLF	lung
40	chr22:32534000-32534600	Active TSS	Primary B cells from peripheral blood	blood
41	chr22:32534000-32534600	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr22:32534000-32534600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr22:32534000-32534600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:32534000-32534600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr22:32534000-32534600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:32534000-32534600	Active TSS	Adipose Nuclei	Adipose
47	chr22:32534000-32534600	Active TSS	Liver	Liver
48	chr22:32534000-32534600	Active TSS	Hela-S3	cervix
49	chr22:32534200-32534400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:32534200-32534400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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