Variant report

Variant	rs2011576
Chromosome Location	chr5:127270337-127270338
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	FOSL2	chr5:127270327-127271023	A549	lung:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
2	FOS	chr5:127270321-127271017	MCF10A-Er-Src	breast:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
3	NR2F2	chr5:127270221-127271124	MCF-7	breast:	n/a	n/a
4	ATF3	chr5:127270313-127271426	A549	lung:	n/a	n/a
5	BCL3	chr5:127270178-127271513	A549	lung:	n/a	n/a
6	FOS	chr5:127270151-127270989	MCF10A-Er-Src	breast:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
7	RAD21	chr5:127270263-127271198	HCT-116	colon:	n/a	n/a
8	TCF12	chr5:127270280-127271053	A549	lung:	n/a	chr5:127270731-127270740
9	REST	chr5:127270333-127271458	A549	lung:	n/a	n/a
10	FOSL1	chr5:127270249-127271177	HCT-116	colon:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
11	GATA3	chr5:127270287-127271397	MCF-7	breast:	n/a	n/a
12	SP1	chr5:127270203-127271574	A549	lung:	n/a	chr5:127270864-127270873 chr5:127270863-127270872
13	EP300	chr5:127270280-127271089	ECC-1	luminal epithelium:	n/a	chr5:127270814-127270824
14	NFIC	chr5:127270298-127271201	ECC-1	luminal epithelium:	n/a	n/a
15	FOSL2	chr5:127270313-127270968	SK-N-SH	brain:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
16	JUND	chr5:127270259-127271167	HCT-116	colon:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
17	ETS1	chr5:127270322-127270991	A549	lung:	n/a	n/a
18	FOXA1	chr5:127270271-127271434	HepG2	liver:	n/a	n/a
19	MAX	chr5:127270267-127271126	HCT-116	colon:	n/a	n/a
20	GATA3	chr5:127270286-127271055	MCF-7	breast:	n/a	n/a
21	CEBPB	chr5:127270250-127271176	HCT-116	colon:	n/a	n/a
22	JUND	chr5:127270287-127271142	HCT-116	colon:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
23	GATA3	chr5:127270050-127271503	A549	lung:	n/a	n/a
24	GATA3	chr5:127270254-127271242	MCF-7	breast:	n/a	n/a
25	TEAD4	chr5:127270226-127271150	A549	lung:	n/a	n/a
26	SP1	chr5:127269955-127271579	A549	lung:	n/a	chr5:127270864-127270873 chr5:127270863-127270872
27	FOXA2	chr5:127270289-127271574	A549	lung:	n/a	n/a
28	E2F4	chr5:127270148-127270962	MCF10A-Er-Src	breast:	n/a	n/a
29	EP300	chr5:127270103-127271524	A549	lung:	n/a	chr5:127270814-127270824
30	SP1	chr5:127270264-127271203	HCT-116	colon:	n/a	chr5:127270864-127270873 chr5:127270863-127270872
31	FOSL1	chr5:127270329-127271213	HCT-116	colon:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
32	CEBPB	chr5:127270302-127271537	A549	lung:	n/a	n/a
33	CBX3	chr5:127270336-127271161	HCT-116	colon:	n/a	n/a
34	USF1	chr5:127270333-127270943	A549	lung:	n/a	n/a
35	SRF	chr5:127270177-127271228	HCT-116	colon:	n/a	n/a
36	RAD21	chr5:127270286-127271183	A549	lung:	n/a	n/a
37	FOSL2	chr5:127270187-127271520	A549	lung:	n/a	chr5:127270723-127270735 chr5:127271475-127271485 chr5:127270595-127270603
38	FOSL2	chr5:127270329-127271067	MCF-7	breast:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
39	CEBPB	chr5:127270314-127271007	MCF-7	breast:	n/a	n/a
40	MYBL2	chr5:127270308-127271063	HepG2	liver:	n/a	n/a
41	NR3C1	chr5:127270325-127271039	A549	lung:	n/a	chr5:127270595-127270604
42	NFIC	chr5:127270305-127270980	HepG2	liver:	n/a	n/a
43	TCF12	chr5:127269992-127271732	A549	lung:	n/a	chr5:127270731-127270740
44	FOXA1	chr5:127270274-127271480	HepG2	liver:	n/a	n/a
45	EP300	chr5:127270050-127271465	A549	lung:	n/a	chr5:127270814-127270824
46	PBX3	chr5:127270337-127270933	A549	lung:	n/a	n/a
47	TCF7L2	chr5:127270074-127271078	HEK293	kidney:	n/a	chr5:127270213-127270222 chr5:127270758-127270772 chr5:127270213-127270223 chr5:127270213-127270220
48	SIN3AK20	chr5:127270302-127271143	HCT-116	colon:	n/a	n/a
49	MAX	chr5:127270321-127271530	A549	lung:	n/a	n/a
50	USF1	chr5:127270271-127271018	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:127267836..127272333-chr5:127416528..127421531,14	MCF-7	breast:
2	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:
3	chr5:127264947..127266921-chr5:127268999..127270511,2	MCF-7	breast:
4	chr5:127269084..127270706-chr5:127275651..127278152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230561	TF binding region
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10050374	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10057561	0.95[EUR][1000 genomes]
rs10064559	0.84[EUR][1000 genomes]
rs10068883	0.84[EUR][1000 genomes]
rs10213776	0.81[EUR][1000 genomes]
rs10900794	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs11738398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741283	0.89[EUR][1000 genomes]
rs12517005	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs13160751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409037	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs4836344	0.92[EUR][1000 genomes]
rs4836346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836348	0.98[EUR][1000 genomes]
rs55896045	0.89[EUR][1000 genomes]
rs6595796	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6871743	0.92[EUR][1000 genomes]
rs6877403	0.90[EUR][1000 genomes]
rs6889756	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6898956	0.85[EUR][1000 genomes]
rs758181	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7706518	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7717741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7726011	0.81[EUR][1000 genomes]
rs9327463	0.81[EUR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127262800-127272000	Weak transcription	Small Intestine	intestine
2	chr5:127264200-127270400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:127266200-127270400	Weak transcription	HSMM	muscle
4	chr5:127266400-127270600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:127266600-127270400	Weak transcription	HUVEC	blood vessel
6	chr5:127266600-127270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:127266600-127270800	Weak transcription	NH-A	brain
8	chr5:127266600-127277000	Weak transcription	Aorta	Aorta
9	chr5:127266800-127270400	Weak transcription	Stomach Mucosa	stomach
10	chr5:127266800-127270400	Weak transcription	HSMMtube	muscle
11	chr5:127266800-127271200	Weak transcription	Pancreas	Pancrea
12	chr5:127267400-127270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:127267800-127270600	Weak transcription	Ovary	ovary
15	chr5:127269400-127271400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr5:127269600-127271600	Enhancers	HepG2	liver
17	chr5:127269800-127270600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr5:127269800-127271400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:127269800-127271600	Enhancers	Hela-S3	cervix
20	chr5:127269800-127292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:127270000-127271200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:127270000-127271200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr5:127270000-127271200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:127270000-127271400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:127270000-127271400	Enhancers	HMEC	breast
26	chr5:127270000-127271600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr5:127270200-127270400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:127270200-127270400	Flanking Active TSS	A549	lung
29	chr5:127270200-127271000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:127270200-127271000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:127270200-127271200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:127270200-127271400	Enhancers	Osteobl	bone
33	chr5:127270200-127272600	Enhancers	NHEK	skin

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