Variant report

Variant	rs7927703
Chromosome Location	chr11:75480370-75480371
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	MAX	chr11:75478921-75480697	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
2	BHLHE40	chr11:75479007-75480553	GM12878	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
3	CTBP2	chr11:75479377-75480657	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr11:75479247-75480548	ECC-1	luminal epithelium:	n/a	chr11:75479350-75479361
5	CTCF	chr11:75478787-75480471	A549	lung:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
6	HCFC1	chr11:75478850-75480400	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr11:75479192-75480605	ECC-1	luminal epithelium:	n/a	chr11:75479350-75479361
8	MTA3	chr11:75478796-75480416	GM12878	blood:	n/a	n/a
9	ZEB1	chr11:75480207-75480682	GM12878	blood:	n/a	chr11:75480548-75480559 chr11:75480548-75480559
10	BACH1	chr11:75480104-75480399	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:75479062-75480646	Raji	blood:	n/a	n/a
12	POLR2A	chr11:75480342-75480726	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75478711..75481665-chr11:75512333..75514833,3	MCF-7	breast:
2	chr11:75479690..75481343-chr11:75485366..75487526,2	K562	blood:
3	chr11:75479943..75481752-chr11:75484660..75487387,2	MCF-7	breast:
4	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:
5	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247867	TF binding region
ENSG00000198382	Chromatin interaction
ENSG00000254826	Chromatin interaction
ENSG00000254814	Chromatin interaction
ENSG00000062282	Chromatin interaction
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57784548	1.00[AMR][1000 genomes]
rs58245876	1.00[AMR][1000 genomes]
rs58725839	1.00[AMR][1000 genomes]
rs59635776	1.00[AMR][1000 genomes]
rs60032678	1.00[AMR][1000 genomes]
rs60841430	1.00[AMR][1000 genomes]
rs7119779	1.00[AMR][1000 genomes]
rs73489913	1.00[AMR][1000 genomes]
rs73489916	1.00[AMR][1000 genomes]
rs73489924	1.00[AMR][1000 genomes]
rs73489925	1.00[AMR][1000 genomes]
rs73504534	1.00[AMR][1000 genomes]
rs73504548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504568	1.00[AMR][1000 genomes]
rs73504574	1.00[AMR][1000 genomes]
rs73504580	1.00[AMR][1000 genomes]
rs73504581	1.00[AMR][1000 genomes]
rs73504584	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504586	1.00[AMR][1000 genomes]
rs73504588	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504598	1.00[AMR][1000 genomes]
rs73506507	1.00[AMR][1000 genomes]
rs73506509	1.00[AMR][1000 genomes]
rs73506510	1.00[AMR][1000 genomes]
rs73506512	1.00[AMR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360811	chr11:75478729-75481277	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
2	chr11:75479000-75480400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
5	chr11:75479000-75480400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr11:75479000-75480600	Flanking Active TSS	Hela-S3	cervix
7	chr11:75479000-75480800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr11:75479000-75480800	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr11:75479000-75482600	Flanking Active TSS	Liver	Liver
10	chr11:75479200-75480400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:75479200-75480400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:75479200-75480400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr11:75479200-75480400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:75479200-75480600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:75479200-75481000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:75479400-75480400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:75479400-75480400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:75479400-75480400	Active TSS	Brain Cingulate Gyrus	brain
21	chr11:75479400-75480400	Active TSS	Colon Smooth Muscle	Colon
22	chr11:75479400-75480400	Active TSS	Ovary	ovary
23	chr11:75479400-75480400	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:75479400-75480600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:75479400-75480600	Active TSS	Brain Angular Gyrus	brain
26	chr11:75479400-75480600	Flanking Active TSS	Spleen	Spleen
27	chr11:75479400-75480800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:75479400-75480800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr11:75479400-75480800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:75479400-75480800	Flanking Active TSS	Esophagus	oesophagus
31	chr11:75479400-75480800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr11:75479400-75481000	Active TSS	Brain Hippocampus Middle	brain
33	chr11:75479400-75481200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:75479400-75482400	Active TSS	Brain Anterior Caudate	brain
35	chr11:75479600-75480400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr11:75479600-75480600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr11:75479600-75480600	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr11:75479600-75480600	Active TSS	Gastric	stomach
39	chr11:75479600-75480800	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:75479600-75480800	Active TSS	Right Atrium	heart
41	chr11:75479600-75481400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:75479800-75480400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:75479800-75480400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:75479800-75480400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:75479800-75480400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:75479800-75480400	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr11:75479800-75480400	Flanking Bivalent TSS/Enh	Osteobl	bone
48	chr11:75479800-75480800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:75479800-75481000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:75480000-75480400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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