Variant report

Variant	rs12575749
Chromosome Location	chr11:36383440-36383441
allele	C/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	MAFK	chr11:36383318-36383983	Hela-S3	cervix:	n/a	chr11:36383875-36383886 chr11:36383873-36383887 chr11:36383875-36383886 chr11:36383874-36383885 chr11:36383874-36383885 chr11:36383874-36383889 chr11:36383874-36383890
2	MAZ	chr11:36383342-36383834	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr11:36383409-36383867	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:36383122-36383884	IMR90	lung:	n/a	n/a
5	TBP	chr11:36383096-36383969	Hela-S3	cervix:	n/a	n/a
6	RFX5	chr11:36382490-36383899	Hela-S3	cervix:	n/a	n/a
7	EP300	chr11:36383389-36384221	ECC-1	luminal epithelium:	n/a	chr11:36383610-36383624 chr11:36383609-36383623 chr11:36383614-36383628
8	CEBPB	chr11:36382598-36383901	Hela-S3	cervix:	n/a	n/a
9	MAX	chr11:36383316-36383962	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:36383407-36383833	H1-hESC	embryonic stem cell:	n/a	n/a
11	GATA3	chr11:36383151-36383448	SH-SY5Y	brain:	n/a	n/a
12	GTF2F1	chr11:36383402-36383911	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10501151	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10501152	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10501153	0.95[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11033573	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11600067	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11603150	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11605962	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35923330	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61878710	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7929961	0.90[AFR][1000 genomes];0.86[ASN][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36378200-36384200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:36378200-36393800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:36378400-36383600	Weak transcription	Spleen	Spleen
4	chr11:36380600-36385200	Enhancers	Brain Hippocampus Middle	brain
5	chr11:36380800-36384400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:36381200-36385600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:36381400-36384200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:36381400-36384200	Weak transcription	Right Atrium	heart
9	chr11:36381400-36389000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:36381600-36388400	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:36381600-36389200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:36381800-36383800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:36382000-36385000	Enhancers	Liver	Liver
14	chr11:36382000-36385800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:36382000-36385800	Enhancers	Fetal Thymus	thymus
16	chr11:36382000-36386400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:36382000-36386400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:36382000-36386600	Enhancers	Fetal Intestine Small	intestine
19	chr11:36382000-36386800	Enhancers	Fetal Intestine Large	intestine
20	chr11:36382000-36387800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:36382200-36385400	Enhancers	HSMM	muscle
22	chr11:36382400-36384000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:36382400-36385000	Weak transcription	Stomach Mucosa	stomach
24	chr11:36382400-36386800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:36382400-36388600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:36382600-36383600	Active TSS	Brain Anterior Caudate	brain
27	chr11:36382600-36383600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:36382600-36384400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:36382600-36384400	Weak transcription	Colonic Mucosa	Colon
30	chr11:36382600-36384800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:36382600-36384800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:36382600-36385000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:36382600-36385200	Weak transcription	Thymus	Thymus
34	chr11:36382800-36383800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:36382800-36384600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:36382800-36384600	Weak transcription	GM12878-XiMat	blood
37	chr11:36382800-36387200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr11:36382800-36388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:36382800-36393800	Weak transcription	Brain Angular Gyrus	brain
40	chr11:36383200-36383600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr11:36383200-36383600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:36383200-36383600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:36383200-36383600	Flanking Active TSS	NH-A	brain
44	chr11:36383200-36383800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:36383200-36383800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:36383200-36383800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:36383200-36383800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:36383200-36383800	Flanking Active TSS	Hela-S3	cervix
49	chr11:36383200-36383800	Flanking Active TSS	HMEC	breast
50	chr11:36383200-36383800	Flanking Active TSS	NHEK	skin

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