Variant report

Variant	rs17158455
Chromosome Location	chr11:63398677-63398678
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	FOXA1	chr11:63398531-63398765	T-47D	breast:	n/a	n/a
2	SPI1	chr11:63398501-63399629	GM12878	blood:	n/a	chr11:63399106-63399113 chr11:63399101-63399110
3	GATA3	chr11:63398610-63399374	A549	lung:	n/a	chr11:63399103-63399113
4	FOXA2	chr11:63398513-63398943	A549	lung:	n/a	n/a
5	IKZF1	chr11:63398558-63399300	GM12878	blood:	n/a	n/a
6	WRNIP1	chr11:63398664-63398900	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:63398447-63398739	HL-60	blood:	n/a	n/a
8	JUND	chr11:63398573-63399386	GM12878	blood:	n/a	chr11:63399076-63399086 chr11:63399076-63399086
9	FOXA2	chr11:63398395-63398932	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63389188..63392023-chr11:63397384..63398972,2	K562	blood:
2	chr11:63396919..63398752-chr11:63447969..63450530,2	MCF-7	breast:
3	chr11:63397172..63398791-chr11:63415028..63417293,2	K562	blood:

Variant related genes	Relation type
ENSG00000270269	TF binding region
ENSG00000133318	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17158456	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957207	1.00[MKK][hapmap]
rs2957254	1.00[YRI][hapmap]
rs480977	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499942	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501095	1.00[YRI][hapmap]
rs502017	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs502717	1.00[YRI][hapmap]
rs509932	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512073	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs512249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516068	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs518304	1.00[YRI][hapmap]
rs519374	1.00[YRI][hapmap]
rs538627	1.00[YRI][hapmap]
rs542124	1.00[YRI][hapmap]
rs565324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569657	1.00[YRI][hapmap]
rs622400	1.00[YRI][hapmap]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63382400-63409800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:63388800-63406400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:63388800-63414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:63390600-63409600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:63390800-63414200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:63391200-63410400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:63391200-63418600	Weak transcription	Psoas Muscle	Psoas
8	chr11:63393800-63426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:63394000-63406000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:63394000-63409200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:63394200-63400600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:63394200-63400800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:63394200-63400800	Strong transcription	HMEC	breast
14	chr11:63394200-63409400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:63394400-63406000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:63394600-63403800	Strong transcription	Osteobl	bone
17	chr11:63394600-63406000	Strong transcription	Adipose Nuclei	Adipose
18	chr11:63394800-63398800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:63394800-63399200	Strong transcription	Colon Smooth Muscle	Colon
20	chr11:63394800-63400600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:63394800-63400600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:63394800-63400600	Strong transcription	HUVEC	blood vessel
23	chr11:63394800-63401000	Strong transcription	Hela-S3	cervix
24	chr11:63394800-63401000	Strong transcription	HSMM	muscle
25	chr11:63394800-63405600	Strong transcription	NHDF-Ad	bronchial
26	chr11:63395000-63400600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr11:63395000-63404000	Strong transcription	Placenta	Placenta
28	chr11:63395000-63405000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:63395000-63426800	Strong transcription	Dnd41	blood
30	chr11:63395200-63400600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:63395200-63400800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:63395200-63406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:63395400-63400600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:63395400-63400600	Strong transcription	NH-A	brain
35	chr11:63395400-63400800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:63395400-63401000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr11:63395400-63403200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:63395400-63403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:63395400-63406200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:63395600-63398800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:63395600-63398800	Strong transcription	NHEK	skin
42	chr11:63395600-63399200	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:63395600-63399200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:63395600-63400600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:63395600-63401200	Strong transcription	Fetal Thymus	thymus
46	chr11:63395600-63403000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:63395600-63403600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:63395600-63404000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:63395600-63404000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:63395600-63404400	Strong transcription	Fetal Muscle Leg	muscle

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