Variant report

Variant	rs5994366
Chromosome Location	chr22:31451457-31451458
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr22:31451318-31452106	T-47D	breast:	n/a	chr22:31451800-31451816 chr22:31451732-31451742
2	MAZ	chr22:31450943-31452206	IMR90	lung:	n/a	chr22:31451761-31451770
3	HDAC2	chr22:31451455-31452068	MCF-7	breast:	n/a	n/a
4	MAX	chr22:31451386-31452095	ECC-1	luminal epithelium:	n/a	chr22:31451761-31451770
5	MAX	chr22:31451118-31452248	A549	lung:	n/a	chr22:31451761-31451770
6	EP300	chr22:31451353-31452100	ECC-1	luminal epithelium:	n/a	chr22:31451800-31451816 chr22:31451732-31451742
7	CREB1	chr22:31451447-31451953	H1-hESC	embryonic stem cell:	n/a	chr22:31451682-31451695
8	CEBPB	chr22:31451406-31451956	A549	lung:	n/a	chr22:31451761-31451772
9	EP300	chr22:31451325-31452129	A549	lung:	n/a	chr22:31451800-31451816 chr22:31451732-31451742
10	CREB1	chr22:31451397-31452093	HepG2	liver:	n/a	chr22:31451682-31451695
11	MXI1	chr22:31451293-31452193	IMR90	lung:	n/a	n/a
12	FOXA1	chr22:31451408-31451910	HepG2	liver:	n/a	chr22:31451727-31451742
13	MAX	chr22:31451045-31452362	A549	lung:	n/a	chr22:31451761-31451770
14	E2F6	chr22:31451407-31451983	H1-hESC	embryonic stem cell:	n/a	chr22:31451648-31451655 chr22:31451644-31451656 chr22:31451645-31451660 chr22:31451648-31451655 chr22:31451685-31451694 chr22:31451648-31451655
15	CEBPB	chr22:31451343-31452150	A549	lung:	n/a	chr22:31451761-31451772
16	ATF3	chr22:31451435-31451986	A549	lung:	n/a	n/a
17	KAP1	chr22:31451370-31452073	HEK293	kidney:	n/a	n/a
18	TCF12	chr22:31451457-31451966	A549	lung:	n/a	n/a
19	JUND	chr22:31451342-31452048	T-47D	breast:	n/a	chr22:31451684-31451693
20	RCOR1	chr22:31450865-31452901	IMR90	lung:	n/a	n/a
21	STAT3	chr22:31451381-31451912	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr22:31451414-31451921	A549	lung:	n/a	chr22:31451684-31451693
23	HEY1	chr22:31451427-31451892	HepG2	liver:	n/a	n/a
24	MAX	chr22:31451369-31452058	HCT-116	colon:	n/a	chr22:31451761-31451770
25	POLR2A	chr22:31451436-31451783	MCF10A-Er-Src	breast:	n/a	n/a
26	BCL3	chr22:31451404-31452226	A549	lung:	n/a	n/a
27	STAT1	chr22:31451385-31451989	Hela-S3	cervix:	n/a	n/a
28	FOSL2	chr22:31451350-31452159	A549	lung:	n/a	chr22:31451684-31451693
29	SETDB1	chr22:31451332-31451965	U2OS	brain:	n/a	n/a
30	MYBL2	chr22:31451436-31452087	HepG2	liver:	n/a	n/a
31	E2F4	chr22:31451416-31451847	MCF10A-Er-Src	breast:	n/a	chr22:31451648-31451655 chr22:31451644-31451656 chr22:31451645-31451660 chr22:31451648-31451655 chr22:31451685-31451694 chr22:31451648-31451655
32	CREB1	chr22:31451453-31451986	ECC-1	luminal epithelium:	n/a	chr22:31451682-31451695
33	STAT3	chr22:31451293-31451910	MCF10A-Er-Src	breast:	n/a	n/a
34	CEBPB	chr22:31451392-31452079	MCF-7	breast:	n/a	chr22:31451761-31451772
35	TEAD4	chr22:31451398-31452058	HepG2	liver:	n/a	n/a
36	TCF12	chr22:31451303-31452328	A549	lung:	n/a	n/a
37	FOXA2	chr22:31451442-31452092	A549	lung:	n/a	n/a
38	GATA3	chr22:31451390-31452008	T-47D	breast:	n/a	chr22:31451553-31451562
39	MAX	chr22:31451443-31452185	HepG2	liver:	n/a	chr22:31451761-31451770
40	MAX	chr22:31451457-31451968	SK-N-SH	brain:	n/a	chr22:31451761-31451770
41	JUN	chr22:31451449-31451913	Hela-S3	cervix:	n/a	chr22:31451684-31451693
42	JUND	chr22:31451414-31451917	A549	lung:	n/a	chr22:31451684-31451693
43	GATA3	chr22:31451434-31451989	T-47D	breast:	n/a	chr22:31451553-31451562
44	FOXA1	chr22:31451428-31451948	HepG2	liver:	n/a	chr22:31451727-31451742
45	GABPA	chr22:31451435-31451937	A549	lung:	n/a	n/a
46	MAX	chr22:31451447-31452156	ECC-1	luminal epithelium:	n/a	chr22:31451761-31451770
47	SP1	chr22:31451292-31452098	A549	lung:	n/a	n/a
48	CREB1	chr22:31451382-31452065	ECC-1	luminal epithelium:	n/a	chr22:31451682-31451695
49	TEAD4	chr22:31451427-31451981	SK-N-SH	brain:	n/a	n/a
50	BRCA1	chr22:31451435-31451872	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31450684..31454190-chr22:31458624..31461519,3	K562	blood:
2	chr22:31449984..31454484-chr22:31456787..31462654,7	K562	blood:
3	chr22:31431928..31434471-chr22:31449804..31451831,2	MCF-7	breast:
4	chr22:31360377..31363179-chr22:31451258..31453241,3	K562	blood:
5	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
6	chr22:31448944..31454267-chr22:31475725..31482456,15	MCF-7	breast:
7	chr22:31450722..31454659-chr22:31476861..31481048,4	K562	blood:
8	chr22:31362787..31366384-chr22:31450123..31453347,3	MCF-7	breast:
9	chr22:31450718..31452880-chr22:31457371..31459942,3	MCF-7	breast:
10	chr22:31450083..31452668-chr22:31463620..31466392,3	MCF-7	breast:
11	chr22:31449294..31454779-chr22:31475265..31480255,11	MCF-7	breast:
12	chr22:31432776..31435079-chr22:31450665..31453170,2	MCF-7	breast:
13	chr22:31368025..31371169-chr22:31447828..31451638,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL633P	TF binding region
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12157450	1.00[JPT][hapmap]
rs12168052	1.00[JPT][hapmap]
rs12330058	1.00[JPT][hapmap]
rs2006301	1.00[JPT][hapmap]
rs2240430	1.00[JPT][hapmap]
rs5021960	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5994365	0.81[AMR][1000 genomes]
rs5994370	1.00[JPT][hapmap]
rs5997861	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997872	1.00[JPT][hapmap]
rs715297	1.00[JPT][hapmap]
rs7284593	1.00[JPT][hapmap]
rs7285683	0.81[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7291565	1.00[JPT][hapmap]
rs736901	1.00[JPT][hapmap]
rs8139338	0.85[EUR][1000 genomes]
rs9619167	1.00[JPT][hapmap]
rs9621179	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
3	chr22:31443600-31455400	Weak transcription	K562	blood
4	chr22:31446600-31451800	Weak transcription	Spleen	Spleen
5	chr22:31449200-31453400	Enhancers	Fetal Muscle Leg	muscle
6	chr22:31449800-31453200	Enhancers	Fetal Lung	lung
7	chr22:31450000-31453000	Enhancers	Fetal Muscle Trunk	muscle
8	chr22:31450200-31452400	Enhancers	Fetal Heart	heart
9	chr22:31450200-31454400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:31450400-31451600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31450600-31452200	Enhancers	NHLF	lung
12	chr22:31450800-31451800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:31450800-31452000	Enhancers	Lung	lung
14	chr22:31450800-31452800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr22:31450800-31452800	Enhancers	Left Ventricle	heart
16	chr22:31450800-31453000	Enhancers	Placenta	Placenta
17	chr22:31450800-31453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:31450800-31453200	Enhancers	Fetal Intestine Small	intestine
19	chr22:31450800-31453600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:31450800-31454600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:31451000-31451600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:31451000-31451600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:31451000-31451600	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr22:31451000-31451600	Flanking Active TSS	A549	lung
25	chr22:31451000-31451800	Enhancers	Brain Hippocampus Middle	brain
26	chr22:31451000-31451800	Enhancers	Brain Substantia Nigra	brain
27	chr22:31451000-31452000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr22:31451000-31452000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:31451000-31452000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:31451000-31452000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr22:31451000-31452000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:31451000-31452000	Enhancers	Adipose Nuclei	Adipose
33	chr22:31451000-31452000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr22:31451000-31452000	Enhancers	Pancreas	Pancrea
35	chr22:31451000-31452000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr22:31451000-31452000	Enhancers	HUVEC	blood vessel
37	chr22:31451000-31452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:31451000-31452200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr22:31451000-31452200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:31451000-31452200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:31451000-31452200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:31451000-31452200	Enhancers	Brain Germinal Matrix	brain
43	chr22:31451000-31452200	Enhancers	Ovary	ovary
44	chr22:31451000-31452200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr22:31451000-31452200	Enhancers	HSMM	muscle
46	chr22:31451000-31452200	Enhancers	NHDF-Ad	bronchial
47	chr22:31451000-31452200	Enhancers	NHEK	skin
48	chr22:31451000-31452200	Enhancers	Osteobl	bone
49	chr22:31451000-31452400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:31451000-31452800	Enhancers	Placenta Amnion	Placenta Amnion

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