Variant report

Variant	rs58087774
Chromosome Location	chr2:11529769-11529770
allele	C/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	CREB1	chr2:11529646-11530512	HepG2	liver:	n/a	chr2:11530218-11530231
4	PRDM1	chr2:11529391-11530759	Hela-S3	cervix:	n/a	n/a
5	USF1	chr2:11529533-11530587	A549	lung:	n/a	n/a
6	MAZ	chr2:11529745-11530537	Hela-S3	cervix:	n/a	chr2:11530281-11530290
7	SP1	chr2:11529274-11530765	A549	lung:	n/a	n/a
8	GTF2F1	chr2:11529565-11530940	Hela-S3	cervix:	n/a	n/a
9	TCF7L2	chr2:11528625-11530572	Hela-S3	cervix:	n/a	n/a
10	NR3C1	chr2:11529609-11530491	A549	lung:	n/a	n/a
11	RAD21	chr2:11529666-11530363	A549	lung:	n/a	n/a
12	ATF3	chr2:11529538-11530575	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
13	MXI1	chr2:11529234-11530571	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr2:11529287-11530789	Hela-S3	cervix:	n/a	n/a
15	BCL3	chr2:11529269-11530729	A549	lung:	n/a	n/a
16	SMC3	chr2:11528968-11530775	Hela-S3	cervix:	n/a	n/a
17	USF1	chr2:11529479-11530660	A549	lung:	n/a	n/a
18	GABPA	chr2:11529652-11530577	A549	lung:	n/a	n/a
19	FOSL2	chr2:11529701-11530571	A549	lung:	n/a	chr2:11530220-11530229
20	GATA3	chr2:11529494-11530295	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr2:11529529-11530558	A549	lung:	n/a	chr2:11530017-11530027
22	E2F6	chr2:11529277-11530668	A549	lung:	n/a	chr2:11530219-11530228 chr2:11530221-11530230
23	USF1	chr2:11529625-11530582	A549	lung:	n/a	n/a
24	EP300	chr2:11529307-11530768	Hela-S3	cervix:	n/a	n/a
25	HDAC2	chr2:11529671-11530206	HepG2	liver:	n/a	n/a
26	FOXA2	chr2:11529684-11530135	HepG2	liver:	n/a	n/a
27	SIX5	chr2:11529451-11530577	A549	lung:	n/a	chr2:11529658-11529672
28	FOXA2	chr2:11529610-11530523	A549	lung:	n/a	n/a
29	EP300	chr2:11529628-11530226	HepG2	liver:	n/a	n/a
30	NFIC	chr2:11529643-11530142	HepG2	liver:	n/a	n/a
31	MYC	chr2:11529399-11530839	Hela-S3	cervix:	n/a	chr2:11530281-11530290 chr2:11530681-11530690
32	RCOR1	chr2:11529260-11530754	Hela-S3	cervix:	n/a	n/a
33	BHLHE40	chr2:11529667-11530966	A549	lung:	n/a	n/a
34	EP300	chr2:11529448-11530816	A549	lung:	n/a	n/a
35	EP300	chr2:11528643-11531074	A549	lung:	n/a	n/a
36	MAX	chr2:11529189-11530514	A549	lung:	n/a	chr2:11530281-11530290
37	NRF1	chr2:11529574-11530022	Hela-S3	cervix:	n/a	n/a
38	TFAP2A	chr2:11528737-11530537	Hela-S3	cervix:	n/a	n/a
39	REST	chr2:11529010-11530729	A549	lung:	n/a	n/a
40	JUND	chr2:11529333-11530828	Hela-S3	cervix:	n/a	chr2:11530161-11530172 chr2:11530220-11530229
41	MAX	chr2:11529332-11530884	Hela-S3	cervix:	n/a	chr2:11530281-11530290 chr2:11530681-11530690
42	NFIC	chr2:11529629-11530159	HepG2	liver:	n/a	n/a
43	NR3C1	chr2:11529677-11530480	A549	lung:	n/a	n/a
44	MYC	chr2:11529650-11530544	MCF10A-Er-Src	breast:	n/a	chr2:11530281-11530290
45	CREB1	chr2:11529639-11530511	HepG2	liver:	n/a	chr2:11530218-11530231
46	MAX	chr2:11529305-11530694	A549	lung:	n/a	chr2:11530281-11530290 chr2:11530681-11530690
47	SP1	chr2:11528834-11530920	A549	lung:	n/a	chr2:11530895-11530909
48	BCL3	chr2:11529146-11530918	A549	lung:	n/a	n/a
49	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
50	ZBTB33	chr2:11529560-11530455	A549	lung:	n/a	chr2:11529926-11529935

No.	Distal block	Cell Line	Cell type
1	chr2:11527911..11529878-chr2:11684256..11685950,2	MCF-7	breast:
2	chr2:11482372..11487550-chr2:11525654..11531960,9	MCF-7	breast:
3	chr2:11526922..11531948-chr2:11535664..11539994,5	MCF-7	breast:

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

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

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

rs_ID	r²[population]
rs55692822	1.00[AMR][1000 genomes]
rs59932492	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:88 , 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	chr2:11524000-11530400	Enhancers	Fetal Intestine Small	intestine
7	chr2:11525400-11530800	Enhancers	Liver	Liver
8	chr2:11525800-11532800	Enhancers	Fetal Heart	heart
9	chr2:11526000-11530600	Enhancers	Stomach Mucosa	stomach
10	chr2:11526000-11533800	Enhancers	NHLF	lung
11	chr2:11526200-11530400	Enhancers	Colon Smooth Muscle	Colon
12	chr2:11526200-11532600	Enhancers	Placenta	Placenta
13	chr2:11526400-11533600	Weak transcription	K562	blood
14	chr2:11526800-11531600	Weak transcription	HMEC	breast
15	chr2:11526800-11533800	Weak transcription	Right Ventricle	heart
16	chr2:11527000-11530000	Weak transcription	HSMM	muscle
17	chr2:11527000-11531600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:11527200-11530000	Weak transcription	Right Atrium	heart
19	chr2:11527200-11531600	Weak transcription	Ovary	ovary
20	chr2:11527200-11532000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:11527400-11529800	Weak transcription	Osteobl	bone
22	chr2:11527400-11531600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:11527600-11529800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:11527600-11530000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:11527800-11531800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:11528000-11530400	Enhancers	Colonic Mucosa	Colon
27	chr2:11528000-11530600	Flanking Active TSS	HepG2	liver
28	chr2:11528000-11530800	Flanking Active TSS	Hela-S3	cervix
29	chr2:11528000-11531000	Enhancers	Fetal Stomach	stomach
30	chr2:11528000-11531000	Flanking Active TSS	A549	lung
31	chr2:11528000-11539800	Enhancers	Fetal Muscle Leg	muscle
32	chr2:11528400-11529800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:11528400-11530000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:11528400-11530400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:11528400-11530800	Enhancers	Fetal Lung	lung
36	chr2:11528400-11531000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:11528400-11532200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:11528400-11532600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:11528400-11532800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:11528400-11532800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:11528400-11533200	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:11528600-11529800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:11528600-11530200	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:11528600-11530400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:11528600-11530400	Enhancers	Psoas Muscle	Psoas
46	chr2:11528600-11531000	Enhancers	Lung	lung
47	chr2:11528600-11532000	Enhancers	Gastric	stomach
48	chr2:11528600-11532600	Weak transcription	Fetal Thymus	thymus
49	chr2:11528600-11532800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:11528800-11530400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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