Variant report

Variant	rs17013448
Chromosome Location	chr4:129475351-129475352
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	SMC3	chr4:129473900-129475470	Hela-S3	cervix:	n/a	chr4:129474516-129474524
2	YY1	chr4:129474904-129475419	SK-N-SH_RA	brain:	n/a	chr4:129475118-129475140 chr4:129475129-129475137
3	EP300	chr4:129473510-129475366	A549	lung:	n/a	chr4:129474131-129474140
4	EP300	chr4:129473730-129475401	A549	lung:	n/a	chr4:129474131-129474140
5	GATA3	chr4:129473699-129475409	A549	lung:	n/a	chr4:129474575-129474585 chr4:129474104-129474113 chr4:129474132-129474141
6	TCF12	chr4:129473690-129475539	SK-N-SH	brain:	n/a	chr4:129474429-129474438 chr4:129474292-129474302 chr4:129474872-129474881
7	PBX3	chr4:129473886-129475454	SK-N-SH	brain:	n/a	chr4:129475212-129475221
8	EP300	chr4:129473917-129475405	SK-N-SH_RA	brain:	n/a	chr4:129474131-129474140
9	SP1	chr4:129473632-129475498	A549	lung:	n/a	n/a
10	PBX3	chr4:129473935-129475391	SK-N-SH	brain:	n/a	chr4:129475212-129475221
11	CEBPB	chr4:129474741-129475360	A549	lung:	n/a	n/a
12	EP300	chr4:129473990-129475360	K562	blood:	n/a	chr4:129474131-129474140
13	MXI1	chr4:129472921-129475744	SK-N-SH	brain:	n/a	n/a
14	RXRA	chr4:129473863-129475478	SK-N-SH	brain:	n/a	chr4:129474764-129474773
15	SP1	chr4:129473575-129475417	A549	lung:	n/a	n/a
16	NFIC	chr4:129473883-129475593	SK-N-SH	brain:	n/a	n/a
17	RCOR1	chr4:129475080-129475356	K562	blood:	n/a	n/a
18	FOSL2	chr4:129473613-129475393	A549	lung:	n/a	chr4:129473986-129473998 chr4:129474128-129474139 chr4:129474131-129474140 chr4:129474131-129474138 chr4:129474132-129474143
19	EP300	chr4:129473207-129475592	SK-N-SH	brain:	n/a	chr4:129473498-129473507 chr4:129473425-129473441 chr4:129474131-129474140
20	FOXA2	chr4:129473870-129475402	A549	lung:	n/a	n/a
21	TCF12	chr4:129473435-129475593	A549	lung:	n/a	chr4:129474429-129474438 chr4:129474292-129474302 chr4:129474872-129474881
22	GATA2	chr4:129473876-129475485	SH-SY5Y	brain:	n/a	chr4:129474575-129474585 chr4:129474104-129474113 chr4:129474132-129474141
23	TBP	chr4:129473904-129475377	Hela-S3	cervix:	n/a	n/a
24	JUN	chr4:129473446-129475981	K562	blood:	n/a	chr4:129473986-129473998 chr4:129474131-129474140 chr4:129475494-129475501 chr4:129474131-129474138 chr4:129474132-129474143

No.	Distal block	Cell Line	Cell type
1	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
2	chr4:129473084..129475457-chr4:129489959..129493905,4	K562	blood:
3	chr4:129207739..129209319-chr4:129473480..129475503,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273077	TF binding region
ENSG00000077684	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000248187	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11098972	1.00[EUR][1000 genomes]
rs1216403	1.00[EUR][1000 genomes]
rs1216414	1.00[EUR][1000 genomes]
rs1216421	1.00[EUR][1000 genomes]
rs1216429	1.00[EUR][1000 genomes]
rs1216430	1.00[EUR][1000 genomes]
rs185993	1.00[EUR][1000 genomes]
rs209981	1.00[EUR][1000 genomes]
rs56317429	1.00[EUR][1000 genomes]
rs72932236	1.00[EUR][1000 genomes]
rs72932261	1.00[EUR][1000 genomes]
rs73850337	1.00[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129473800-129475400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:129473800-129475400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:129473800-129475400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:129473800-129475600	Flanking Active TSS	Osteobl	bone
5	chr4:129474000-129475400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:129474000-129475400	Active TSS	Brain Substantia Nigra	brain
7	chr4:129474600-129475400	Flanking Active TSS	HepG2	liver
8	chr4:129474600-129475600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:129474600-129480200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:129474800-129475400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:129474800-129475400	Enhancers	Primary B cells from cord blood	blood
12	chr4:129474800-129475400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:129474800-129475400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:129474800-129475400	Flanking Active TSS	Fetal Heart	heart
15	chr4:129474800-129475400	Enhancers	Fetal Thymus	thymus
16	chr4:129474800-129475400	Weak transcription	Pancreas	Pancrea
17	chr4:129474800-129475400	Weak transcription	Psoas Muscle	Psoas
18	chr4:129474800-129475400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr4:129474800-129475400	Enhancers	HSMM	muscle
20	chr4:129474800-129475400	Flanking Active TSS	NHDF-Ad	bronchial
21	chr4:129474800-129475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:129474800-129475600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:129474800-129475600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr4:129474800-129475600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:129474800-129475600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr4:129474800-129475600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr4:129474800-129475600	Enhancers	Brain Anterior Caudate	brain
28	chr4:129474800-129475600	Enhancers	Brain Germinal Matrix	brain
29	chr4:129474800-129475600	Enhancers	Fetal Kidney	kidney
30	chr4:129474800-129475600	Enhancers	Fetal Lung	lung
31	chr4:129474800-129475600	Enhancers	Spleen	Spleen
32	chr4:129474800-129475600	Flanking Active TSS	A549	lung
33	chr4:129474800-129475800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr4:129474800-129476000	Enhancers	Primary T cells from cord blood	blood
35	chr4:129474800-129476400	Enhancers	Small Intestine	intestine
36	chr4:129474800-129477000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:129474800-129487400	Weak transcription	Lung	lung
38	chr4:129474800-129487600	Weak transcription	Left Ventricle	heart
39	chr4:129475000-129475400	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:129475000-129475400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr4:129475000-129475400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:129475000-129475400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:129475000-129475400	Enhancers	Brain Angular Gyrus	brain
44	chr4:129475000-129475400	Enhancers	Brain Cingulate Gyrus	brain
45	chr4:129475000-129475400	Enhancers	HSMMtube	muscle
46	chr4:129475000-129475600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr4:129475000-129475600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:129475000-129475600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:129475000-129475600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr4:129475000-129475600	Flanking Active TSS	Liver	Liver

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