Variant report

Variant	rs11569294
Chromosome Location	chr3:141668918-141668919
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	FOSL2	chr3:141668737-141669183	HepG2	liver:	n/a	n/a
2	JUN	chr3:141668881-141669234	HepG2	liver:	n/a	n/a
3	EP300	chr3:141668863-141669096	HepG2	liver:	n/a	n/a
4	HDAC2	chr3:141668870-141669208	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:141668781-141669147	HepG2	liver:	n/a	n/a
6	HNF4A	chr3:141668860-141669190	HepG2	liver:	n/a	chr3:141669002-141669017
7	POLR2A	chr3:141668838-141669011	H1-hESC	embryonic stem cell:	n/a	n/a
8	HNF4G	chr3:141668839-141669140	HepG2	liver:	n/a	n/a
9	JUND	chr3:141668826-141669258	HepG2	liver:	n/a	chr3:141668990-141669001
10	JUND	chr3:141668889-141669128	HepG2	liver:	n/a	chr3:141668990-141669001
11	MXI1	chr3:141668876-141669194	HepG2	liver:	n/a	n/a
12	CEBPB	chr3:141668867-141669075	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:141666496-141671385	K562	blood:	n/a	n/a
14	FOSL2	chr3:141668673-141669220	HepG2	liver:	n/a	n/a
15	TCF7L2	chr3:141668876-141669187	HepG2	liver:	n/a	n/a
16	MYBL2	chr3:141668730-141669275	HepG2	liver:	n/a	n/a
17	RCOR1	chr3:141668787-141668989	HepG2	liver:	n/a	n/a
18	HNF4A	chr3:141668836-141669173	HepG2	liver:	n/a	chr3:141669002-141669017
19	CEBPB	chr3:141668776-141669045	HepG2	liver:	n/a	n/a
20	NFIC	chr3:141668870-141669146	HepG2	liver:	n/a	n/a
21	EP300	chr3:141668784-141669233	HepG2	liver:	n/a	n/a
22	ARID3A	chr3:141668875-141669164	HepG2	liver:	n/a	n/a
23	MYBL2	chr3:141668785-141669241	HepG2	liver:	n/a	n/a
24	NFIC	chr3:141668772-141669175	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141664146..141666902-chr3:141667918..141670040,2	K562	blood:
2	chr3:141662334..141665277-chr3:141666881..141671768,4	K562	blood:

Variant related genes	Relation type
ENSG00000269905	TF binding region
ENSG00000269905	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11569280	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11569284	1.00[AMR][1000 genomes]
rs11569287	1.00[AMR][1000 genomes]
rs16852073	1.00[ASN][1000 genomes]
rs60029878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72988270	1.00[AMR][1000 genomes]
rs72990232	0.84[AFR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141621000-141670800	Weak transcription	Small Intestine	intestine
2	chr3:141628200-141673600	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:141628600-141669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:141628800-141669800	Weak transcription	Fetal Lung	lung
5	chr3:141628800-141674000	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
7	chr3:141634200-141682000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:141643000-141675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:141643400-141671200	Weak transcription	Right Ventricle	heart
10	chr3:141644800-141678400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:141647000-141669200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:141647200-141669400	Weak transcription	Primary B cells from cord blood	blood
13	chr3:141647400-141670400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:141647600-141670600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:141647800-141670200	Weak transcription	Adipose Nuclei	Adipose
16	chr3:141648000-141670000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:141648000-141670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:141659200-141696200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:141659400-141673800	Weak transcription	Brain Germinal Matrix	brain
20	chr3:141659400-141678400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:141659600-141669400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:141659600-141670400	Weak transcription	NH-A	brain
23	chr3:141659600-141670800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:141659600-141671200	Weak transcription	Pancreas	Pancrea
25	chr3:141659600-141671400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:141659600-141674000	Weak transcription	NHLF	lung
27	chr3:141659600-141676000	Weak transcription	Fetal Heart	heart
28	chr3:141659600-141676400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:141659600-141678200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:141659600-141678200	Weak transcription	NHDF-Ad	bronchial
31	chr3:141659600-141678400	Weak transcription	A549	lung
32	chr3:141660000-141670400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:141660000-141670800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:141660000-141673800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:141660000-141674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:141660200-141670800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:141660200-141670800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:141660400-141671200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:141660600-141670200	Weak transcription	Fetal Brain Male	brain
40	chr3:141660600-141698200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:141660800-141669400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:141660800-141670200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:141660800-141670400	Weak transcription	Fetal Brain Female	brain
44	chr3:141660800-141670800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr3:141661200-141669000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:141661200-141669200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:141661200-141669600	Weak transcription	Colonic Mucosa	Colon
48	chr3:141661200-141670800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:141661200-141670800	Weak transcription	Gastric	stomach
50	chr3:141661200-141670800	Weak transcription	Lung	lung

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