Variant report

Variant	rs55692822
Chromosome Location	chr2:11530637-11530638
allele	A/T
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	RAD21	chr2:11529635-11530868	A549	lung:	n/a	n/a
2	CEBPB	chr2:11529741-11530838	A549	lung:	n/a	n/a
3	PRDM1	chr2:11529391-11530759	Hela-S3	cervix:	n/a	n/a
4	SP1	chr2:11529274-11530765	A549	lung:	n/a	n/a
5	GTF2F1	chr2:11529565-11530940	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr2:11529287-11530789	Hela-S3	cervix:	n/a	n/a
7	BCL3	chr2:11529269-11530729	A549	lung:	n/a	n/a
8	SMC3	chr2:11528968-11530775	Hela-S3	cervix:	n/a	n/a
9	USF1	chr2:11529479-11530660	A549	lung:	n/a	n/a
10	E2F6	chr2:11529277-11530668	A549	lung:	n/a	chr2:11530219-11530228 chr2:11530221-11530230
11	EP300	chr2:11529307-11530768	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr2:11530011-11530749	MCF10A-Er-Src	breast:	n/a	chr2:11530575-11530586
13	STAT3	chr2:11529856-11530763	MCF10A-Er-Src	breast:	n/a	chr2:11529949-11529957 chr2:11530575-11530586
14	MYC	chr2:11529399-11530839	Hela-S3	cervix:	n/a	chr2:11530281-11530290 chr2:11530681-11530690
15	STAT3	chr2:11529998-11530782	MCF10A-Er-Src	breast:	n/a	chr2:11530575-11530586
16	RCOR1	chr2:11529260-11530754	Hela-S3	cervix:	n/a	n/a
17	BHLHE40	chr2:11529667-11530966	A549	lung:	n/a	n/a
18	EP300	chr2:11529448-11530816	A549	lung:	n/a	n/a
19	FOS	chr2:11529894-11530755	MCF10A-Er-Src	breast:	n/a	chr2:11530220-11530229
20	EP300	chr2:11528643-11531074	A549	lung:	n/a	n/a
21	REST	chr2:11529010-11530729	A549	lung:	n/a	n/a
22	JUND	chr2:11529333-11530828	Hela-S3	cervix:	n/a	chr2:11530161-11530172 chr2:11530220-11530229
23	MAX	chr2:11529332-11530884	Hela-S3	cervix:	n/a	chr2:11530281-11530290 chr2:11530681-11530690
24	MAX	chr2:11529305-11530694	A549	lung:	n/a	chr2:11530281-11530290 chr2:11530681-11530690
25	SP1	chr2:11528834-11530920	A549	lung:	n/a	chr2:11530895-11530909
26	STAT3	chr2:11529772-11530758	Hela-S3	cervix:	n/a	chr2:11529949-11529957 chr2:11530575-11530586
27	BCL3	chr2:11529146-11530918	A549	lung:	n/a	n/a
28	ATF3	chr2:11529656-11530772	A549	lung:	n/a	chr2:11530221-11530228 chr2:11530217-11530232 chr2:11530217-11530230 chr2:11530221-11530231 chr2:11530219-11530230 chr2:11530218-11530228 chr2:11530218-11530231 chr2:11530218-11530231 chr2:11530218-11530229
29	FOS	chr2:11530017-11530750	MCF10A-Er-Src	breast:	n/a	chr2:11530220-11530229
30	CEBPB	chr2:11529658-11530903	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr2:11529563-11530888	A549	lung:	n/a	n/a
32	JUN	chr2:11529707-11530775	Hela-S3	cervix:	n/a	chr2:11530220-11530229
33	MAX	chr2:11529640-11530637	MCF-7	breast:	n/a	chr2:11530281-11530290
34	GATA3	chr2:11529325-11530882	A549	lung:	n/a	n/a
35	MAFK	chr2:11529317-11530704	Hela-S3	cervix:	n/a	chr2:11530156-11530171 chr2:11530157-11530177 chr2:11530161-11530170 chr2:11530160-11530174 chr2:11530159-11530175 chr2:11530216-11530233
36	TCF12	chr2:11527666-11531173	A549	lung:	n/a	chr2:11530017-11530027
37	MAX	chr2:11529172-11531203	A549	lung:	n/a	chr2:11530281-11530290 chr2:11530681-11530690
38	FOSL2	chr2:11529055-11530920	A549	lung:	n/a	chr2:11530220-11530229
39	FOS	chr2:11529894-11530743	MCF10A-Er-Src	breast:	n/a	chr2:11530220-11530229
40	BRCA1	chr2:11529320-11530820	Hela-S3	cervix:	n/a	n/a
41	TBP	chr2:11529388-11530737	Hela-S3	cervix:	n/a	n/a
42	TEAD4	chr2:11529407-11530699	HepG2	liver:	n/a	chr2:11530233-11530242
43	SMARCC1	chr2:11529620-11531027	Hela-S3	cervix:	n/a	n/a
44	SIN3AK20	chr2:11529634-11530764	A549	lung:	n/a	n/a
45	STAT1	chr2:11528524-11530962	Hela-S3	cervix:	n/a	chr2:11529949-11529957 chr2:11529563-11529575 chr2:11528981-11528989
46	STAT3	chr2:11530054-11530749	MCF10A-Er-Src	breast:	n/a	chr2:11530575-11530586
47	RFX5	chr2:11528953-11530868	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11483940..11486207-chr2:11530235..11532034,2	K562	blood:
2	chr2:11482372..11487550-chr2:11525654..11531960,9	MCF-7	breast:
3	chr2:11483049..11486978-chr2:11530307..11533471,4	MCF-7	breast:
4	chr2:11530260..11531942-chr2:11531985..11534972,2	MCF-7	breast:
5	chr2:11526922..11531948-chr2:11535664..11539994,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231403	TF binding region
LINC00570	TF binding region
ENSG00000224177	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58087774	1.00[AMR][1000 genomes]
rs59932492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915168	1.00[AMR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11517600-11536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:11519000-11537400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:11519200-11530800	Weak transcription	Brain Anterior Caudate	brain
4	chr2:11520200-11531600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:11523800-11530800	Enhancers	Fetal Intestine Large	intestine
6	chr2:11525400-11530800	Enhancers	Liver	Liver
7	chr2:11525800-11532800	Enhancers	Fetal Heart	heart
8	chr2:11526000-11533800	Enhancers	NHLF	lung
9	chr2:11526200-11532600	Enhancers	Placenta	Placenta
10	chr2:11526400-11533600	Weak transcription	K562	blood
11	chr2:11526800-11531600	Weak transcription	HMEC	breast
12	chr2:11526800-11533800	Weak transcription	Right Ventricle	heart
13	chr2:11527000-11531600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11527200-11531600	Weak transcription	Ovary	ovary
15	chr2:11527200-11532000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:11527400-11531600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:11527800-11531800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:11528000-11530800	Flanking Active TSS	Hela-S3	cervix
19	chr2:11528000-11531000	Enhancers	Fetal Stomach	stomach
20	chr2:11528000-11531000	Flanking Active TSS	A549	lung
21	chr2:11528000-11539800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:11528400-11530800	Enhancers	Fetal Lung	lung
23	chr2:11528400-11531000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:11528400-11532200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:11528400-11532600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:11528400-11532800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:11528400-11532800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:11528400-11533200	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:11528600-11531000	Enhancers	Lung	lung
30	chr2:11528600-11532000	Enhancers	Gastric	stomach
31	chr2:11528600-11532600	Weak transcription	Fetal Thymus	thymus
32	chr2:11528600-11532800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:11528800-11530800	Enhancers	NHDF-Ad	bronchial
34	chr2:11528800-11535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:11529000-11531000	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:11529000-11531400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:11529000-11531600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:11529000-11533600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:11529000-11535200	Weak transcription	Left Ventricle	heart
40	chr2:11529000-11538400	Weak transcription	Small Intestine	intestine
41	chr2:11529200-11531600	Weak transcription	Adipose Nuclei	Adipose
42	chr2:11529200-11531600	Weak transcription	Aorta	Aorta
43	chr2:11529200-11531600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:11529200-11531600	Weak transcription	Spleen	Spleen
45	chr2:11529200-11532400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:11529400-11531000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:11529600-11531400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:11529600-11531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:11529600-11531600	Enhancers	Fetal Brain Male	brain
50	chr2:11529600-11531600	Enhancers	NH-A	brain

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