Variant report

Variant	rs5009272
Chromosome Location	chr2:211418283-211418284
allele	A/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	TCF7L2	chr2:211418189-211418558	Hela-S3	cervix:	n/a	chr2:211418528-211418537 chr2:211418234-211418243 chr2:211418256-211418266 chr2:211418526-211418540 chr2:211418525-211418541 chr2:211418529-211418539 chr2:211418529-211418538 chr2:211418525-211418541
2	FOXA1	chr2:211418038-211418700	HepG2	liver:	n/a	n/a
3	FOS	chr2:211418038-211418465	HUVEC	blood vessel:	n/a	chr2:211418233-211418244 chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
4	FOS	chr2:211418081-211418429	MCF10A-Er-Src	breast:	n/a	chr2:211418233-211418244 chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
5	JUND	chr2:211418044-211418443	SK-N-SH	brain:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243 chr2:211418233-211418244
6	MYC	chr2:211418282-211418310	HUVEC	blood vessel:	n/a	n/a
7	NR3C1	chr2:211418189-211418508	A549	lung:	n/a	chr2:211418290-211418308 chr2:211418291-211418307 chr2:211418291-211418307
8	FOXA1	chr2:211418072-211418389	HepG2	liver:	n/a	n/a
9	GATA3	chr2:211418069-211418572	SK-N-SH	brain:	n/a	chr2:211418233-211418242
10	NR3C1	chr2:211418187-211418391	A549	lung:	n/a	chr2:211418290-211418308 chr2:211418291-211418307 chr2:211418291-211418307
11	STAT3	chr2:211418160-211418299	MCF10A-Er-Src	breast:	n/a	chr2:211418234-211418243
12	MXI1	chr2:211418159-211418615	Hela-S3	cervix:	n/a	n/a
13	MAX	chr2:211418168-211418609	Hela-S3	cervix:	n/a	n/a
14	FOS	chr2:211418185-211418401	MCF10A-Er-Src	breast:	n/a	chr2:211418233-211418244 chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
15	FOSL2	chr2:211418043-211418503	SK-N-SH	brain:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
16	FOSL2	chr2:211418159-211418422	HepG2	liver:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
17	NR3C1	chr2:211418212-211418392	A549	lung:	n/a	chr2:211418290-211418308 chr2:211418291-211418307 chr2:211418291-211418307
18	JUND	chr2:211418031-211418490	Hela-S3	cervix:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243 chr2:211418233-211418244
19	TCF7L2	chr2:211417838-211418595	Hela-S3	cervix:	n/a	chr2:211418528-211418537 chr2:211418234-211418243 chr2:211418256-211418266 chr2:211418526-211418540 chr2:211418525-211418541 chr2:211418529-211418539 chr2:211418529-211418538 chr2:211418525-211418541
20	FOS	chr2:211418098-211418386	MCF10A-Er-Src	breast:	n/a	chr2:211418233-211418244 chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
21	JUND	chr2:211418105-211418431	HepG2	liver:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243 chr2:211418233-211418244
22	JUND	chr2:211418061-211418689	SK-N-SH	brain:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243 chr2:211418233-211418244
23	POLR2A	chr2:211418126-211418447	HUVEC	blood vessel:	n/a	n/a
24	JUN	chr2:211417980-211418478	Hela-S3	cervix:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
25	JUN	chr2:211418106-211418381	HepG2	liver:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
26	NR3C1	chr2:211418188-211418474	A549	lung:	n/a	chr2:211418290-211418308 chr2:211418291-211418307 chr2:211418291-211418307
27	FOXA1	chr2:211418195-211418473	HepG2	liver:	n/a	n/a
28	FOXA2	chr2:211418208-211418373	HepG2	liver:	n/a	n/a
29	JUND	chr2:211418169-211418395	HepG2	liver:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243 chr2:211418233-211418244
30	MXI1	chr2:211418193-211418478	HepG2	liver:	n/a	n/a
31	FOXA1	chr2:211417987-211418675	HepG2	liver:	n/a	n/a
32	PBX3	chr2:211418068-211418486	SK-N-SH	brain:	n/a	chr2:211418336-211418345
33	TBP	chr2:211418126-211418523	Hela-S3	cervix:	n/a	n/a
34	FOS	chr2:211418129-211418444	MCF10A-Er-Src	breast:	n/a	chr2:211418233-211418244 chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
35	FOSL2	chr2:211418153-211418430	HepG2	liver:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
36	JUND	chr2:211418044-211418467	SK-N-SH	brain:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243 chr2:211418233-211418244
37	ARID3A	chr2:211418192-211418425	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:211418213-211418402	Hela-S3	cervix:	n/a	n/a
39	NR3C1	chr2:211418166-211418461	A549	lung:	n/a	chr2:211418290-211418308 chr2:211418291-211418307 chr2:211418291-211418307
40	EP300	chr2:211417775-211418515	Hela-S3	cervix:	n/a	chr2:211418235-211418244
41	BHLHE40	chr2:211418274-211418402	HepG2	liver:	n/a	n/a
42	FOSL2	chr2:211417993-211418574	SK-N-SH	brain:	n/a	chr2:211418234-211418244 chr2:211418234-211418244 chr2:211418234-211418243
43	CHD2	chr2:211418156-211418455	Hela-S3	cervix:	n/a	n/a
44	PBX3	chr2:211418091-211418486	SK-N-SH	brain:	n/a	chr2:211418336-211418345

Variant related genes	Relation type
CPS1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10172081	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191395	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10932341	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10932342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10932343	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11904031	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12472153	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12475210	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2012564	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2247029	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2247708	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250976	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2544304	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2544305	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2544306	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2544307	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544308	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544310	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544311	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544312	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664229	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2664230	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2664231	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664232	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664233	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664234	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664236	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664237	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2887913	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3914067	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4673538	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6744672	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6749355	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs951878	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs981024	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211406200-211421000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:211412000-211422400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:211413200-211421000	Enhancers	Hela-S3	cervix
4	chr2:211414000-211421200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:211416800-211425800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:211417200-211418400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:211417200-211418800	Enhancers	HepG2	liver
8	chr2:211417400-211418600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:211417400-211418600	Enhancers	Liver	Liver
10	chr2:211417400-211419600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:211417800-211418400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:211417800-211420400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:211418000-211418600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:211418200-211418600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:211418200-211424400	Genic enhancers	Fetal Intestine Large	intestine

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