Variant report

Variant	rs17152743
Chromosome Location	chr11:58348254-58348255
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	POLR2A	chr11:58342402-58348892	K562	blood:	n/a	n/a
2	POLR2A	chr11:58348178-58348420	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr11:58344356-58348358	SK-N-SH	brain:	n/a	n/a
4	CHD1	chr11:58344203-58348469	IMR90	lung:	n/a	chr11:58346265-58346274 chr11:58346484-58346494 chr11:58346341-58346350 chr11:58346680-58346690
5	POLR2A	chr11:58342626-58348333	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58347130..58349444-chr11:58352908..58354763,3	MCF-7	breast:
2	chr11:57433251..57435131-chr11:58346916..58348765,2	K562	blood:
3	chr11:58346682..58349272-chr11:58349301..58352571,4	MCF-7	breast:
4	chr11:57433251..57437103-chr11:58344962..58348416,5	K562	blood:
5	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
6	chr11:58343669..58348848-chr11:58387112..58391418,8	K562	blood:
7	chr11:58345131..58348848-chr11:58387112..58390850,4	K562	blood:

Variant related genes	Relation type
LPXN	TF binding region
ENSG00000242689	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000134809	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17145606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152709	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152724	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152750	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152779	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4586183	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57786139	1.00[AMR][1000 genomes]
rs59106173	1.00[AMR][1000 genomes]
rs7102202	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104914	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7112500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122860	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472031	1.00[AMR][1000 genomes]
rs73472034	1.00[AMR][1000 genomes]
rs73472049	1.00[AMR][1000 genomes]
rs7937507	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58344400-58348400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:58344400-58349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:58344400-58349400	Active TSS	K562	blood
4	chr11:58344600-58348400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:58344600-58348400	Active TSS	NHLF	lung
6	chr11:58344600-58348600	Active TSS	Psoas Muscle	Psoas
7	chr11:58344600-58348800	Active TSS	GM12878-XiMat	blood
8	chr11:58344600-58349000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:58344600-58349000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:58344600-58350000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:58344800-58348400	Active TSS	Right Ventricle	heart
12	chr11:58344800-58348600	Active TSS	Fetal Intestine Large	intestine
13	chr11:58344800-58348800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:58345000-58348400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:58345000-58348400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:58345000-58348400	Active TSS	HSMMtube	muscle
17	chr11:58345200-58348400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:58345200-58348400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:58345200-58348600	Active TSS	Thymus	Thymus
20	chr11:58345200-58349200	Active TSS	Hela-S3	cervix
21	chr11:58345400-58348400	Active TSS	Fetal Thymus	thymus
22	chr11:58345600-58349000	Active TSS	HMEC	breast
23	chr11:58346400-58348400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:58346400-58348800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:58346400-58349200	Active TSS	Right Atrium	heart
26	chr11:58347200-58348400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:58347200-58348400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:58347200-58348600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr11:58347400-58348400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr11:58347400-58348600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:58347400-58348800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr11:58347400-58349000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr11:58347400-58349000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr11:58347600-58348400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr11:58347600-58348400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr11:58347600-58348400	Weak transcription	Ovary	ovary
37	chr11:58347600-58348600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:58347600-58348600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:58347600-58348600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr11:58347600-58348600	Flanking Active TSS	HUVEC	blood vessel
41	chr11:58347600-58348800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:58347600-58348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:58347600-58348800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr11:58347600-58348800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:58347600-58348800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:58347600-58348800	Weak transcription	Left Ventricle	heart
47	chr11:58347600-58348800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:58347600-58348800	Weak transcription	Spleen	Spleen
49	chr11:58347600-58349000	Weak transcription	Small Intestine	intestine
50	chr11:58347600-58349800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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