Variant report

Variant	rs4464796
Chromosome Location	chr6:13269730-13269731
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	CEBPB	chr6:13269429-13269776	H1-hESC	embryonic stem cell:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
2	JUND	chr6:13269467-13269751	K562	blood:	n/a	n/a
3	TEAD4	chr6:13269306-13269746	K562	blood:	n/a	n/a
4	CEBPB	chr6:13269372-13269855	MCF-7	breast:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
5	FOS	chr6:13269444-13269773	MCF10A-Er-Src	breast:	n/a	n/a
6	TEAD4	chr6:13269316-13269787	HepG2	liver:	n/a	n/a
7	TEAD4	chr6:13269311-13269773	ECC-1	luminal epithelium:	n/a	n/a
8	NR2F2	chr6:13269266-13269824	MCF-7	breast:	n/a	n/a
9	CEBPB	chr6:13269421-13269768	HepG2	liver:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
10	EP300	chr6:13269419-13269738	Hela-S3	cervix:	n/a	chr6:13269602-13269616
11	CEBPB	chr6:13269493-13269797	A549	lung:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
12	CEBPB	chr6:13269409-13269796	K562	blood:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
13	TEAD4	chr6:13269385-13269770	K562	blood:	n/a	n/a
14	CEBPB	chr6:13269253-13269938	MCF-7	breast:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
15	NR2F2	chr6:13269276-13269793	MCF-7	breast:	n/a	n/a
16	TEAD4	chr6:13269502-13269784	MCF-7	breast:	n/a	n/a
17	TEAD4	chr6:13269390-13269786	ECC-1	luminal epithelium:	n/a	n/a
18	GATA3	chr6:13269416-13269868	MCF-7	breast:	n/a	n/a
19	FOS	chr6:13269438-13269767	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr6:13269386-13269809	ECC-1	luminal epithelium:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
21	CEBPB	chr6:13269392-13269807	A549	lung:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
22	TEAD4	chr6:13269409-13269807	MCF-7	breast:	n/a	n/a
23	FOS	chr6:13269409-13269756	MCF10A-Er-Src	breast:	n/a	n/a
24	CEBPD	chr6:13269387-13269858	K562	blood:	n/a	chr6:13269602-13269613
25	TEAD4	chr6:13269439-13269775	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOS	chr6:13269408-13269767	MCF10A-Er-Src	breast:	n/a	n/a
27	ATF3	chr6:13269424-13269766	K562	blood:	n/a	n/a
28	GATA3	chr6:13269286-13269736	T-47D	breast:	n/a	n/a
29	MAFK	chr6:13269573-13269735	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr6:13269370-13269774	K562	blood:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
31	CEBPB	chr6:13269429-13269784	IMR90	lung:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
32	CEBPB	chr6:13269414-13269790	HepG2	liver:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
33	GATA3	chr6:13269192-13269879	MCF-7	breast:	n/a	n/a
34	GATA3	chr6:13269232-13269765	T-47D	breast:	n/a	n/a
35	CEBPB	chr6:13269398-13269815	Hela-S3	cervix:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
36	CEBPB	chr6:13269429-13269748	A549	lung:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
37	JUND	chr6:13269346-13269854	T-47D	breast:	n/a	n/a
38	CEBPB	chr6:13269390-13269784	HepG2	liver:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
39	CEBPB	chr6:13269393-13269792	ECC-1	luminal epithelium:	n/a	chr6:13269601-13269612 chr6:13269696-13269713 chr6:13269603-13269614 chr6:13269699-13269711
40	JUND	chr6:13269450-13269761	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13268970..13278598-chr6:13326296..13332818,15	K562	blood:
2	chr6:13266277..13270174-chr6:13278637..13282022,4	MCF-7	breast:
3	chr6:13258559..13263124-chr6:13265994..13271116,8	K562	blood:
4	chr6:13259737..13263124-chr6:13265994..13271257,6	K562	blood:
5	chr6:13265469..13267865-chr6:13268622..13270348,2	K562	blood:

Variant related genes	Relation type
PHACTR1	TF binding region
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11757292	0.93[EUR][1000 genomes]
rs11758225	0.93[EUR][1000 genomes]
rs55739420	0.96[EUR][1000 genomes]
rs55903603	0.93[EUR][1000 genomes]
rs56380716	0.93[EUR][1000 genomes]
rs57728205	0.96[EUR][1000 genomes]
rs58425216	0.93[EUR][1000 genomes]
rs58875474	0.93[EUR][1000 genomes]
rs6458744	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928672	0.85[EUR][1000 genomes]
rs73725628	0.85[EUR][1000 genomes]
rs73725649	0.93[EUR][1000 genomes]
rs7757265	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769621	0.89[EUR][1000 genomes]
rs7770755	0.89[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249200-13272200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
3	chr6:13256600-13272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:13256600-13273200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:13256600-13278200	Weak transcription	Pancreas	Pancrea
6	chr6:13258800-13272200	Weak transcription	Left Ventricle	heart
7	chr6:13261400-13272200	Weak transcription	Brain Angular Gyrus	brain
8	chr6:13261400-13272200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:13261400-13273000	Weak transcription	Adipose Nuclei	Adipose
10	chr6:13261600-13272200	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:13262600-13272400	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:13262600-13272800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:13263400-13272400	Weak transcription	Spleen	Spleen
14	chr6:13264600-13272200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:13267000-13269800	Weak transcription	Lung	lung
16	chr6:13267000-13274200	Weak transcription	Gastric	stomach
17	chr6:13267200-13272000	Enhancers	Primary B cells from cord blood	blood
18	chr6:13267400-13270400	Enhancers	Fetal Heart	heart
19	chr6:13267400-13272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:13267400-13272200	Weak transcription	Brain Germinal Matrix	brain
21	chr6:13267400-13272200	Weak transcription	Fetal Stomach	stomach
22	chr6:13267400-13280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:13267400-13283600	Weak transcription	Fetal Brain Female	brain
24	chr6:13267800-13272000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:13267800-13272200	Weak transcription	Brain Anterior Caudate	brain
26	chr6:13268000-13278800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:13268000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:13268400-13272200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:13268800-13270400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:13268800-13270400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:13268800-13270400	Enhancers	Ovary	ovary
32	chr6:13268800-13270800	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:13268800-13271000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:13269000-13270000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:13269000-13270200	Enhancers	Placenta	Placenta
36	chr6:13269000-13270200	Enhancers	HSMM	muscle
37	chr6:13269000-13271200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:13269000-13272600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:13269200-13270000	Enhancers	HepG2	liver
40	chr6:13269200-13270200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:13269200-13270200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:13269200-13270200	Enhancers	Hela-S3	cervix
43	chr6:13269200-13270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:13269200-13282000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:13269400-13270800	Enhancers	HSMMtube	muscle
46	chr6:13269400-13272200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:13269400-13274200	Weak transcription	Aorta	Aorta
48	chr6:13269400-13275400	Weak transcription	Right Ventricle	heart
49	chr6:13269400-13284800	Weak transcription	Right Atrium	heart
50	chr6:13269600-13269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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