Variant report

Variant	rs9544047
Chromosome Location	chr13:76386155-76386156
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	EBF1	chr13:76386152-76386183	GM12878	blood:	n/a	n/a
2	STAT3	chr13:76385496-76386210	MCF10A-Er-Src	breast:	n/a	chr13:76385697-76385708 chr13:76385650-76385658

Variant related genes	Relation type
LMO7	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12428617	0.90[ASN][1000 genomes]
rs12429534	0.90[ASN][1000 genomes]
rs12430034	0.84[ASN][1000 genomes]
rs12430940	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17065053	0.85[ASN][1000 genomes]
rs17065074	0.97[ASN][1000 genomes]
rs17065145	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2120060	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2120061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241913	0.97[ASN][1000 genomes]
rs2296093	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3736858	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783025	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3825439	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41287008	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58447742	0.82[ASN][1000 genomes]
rs61958156	0.82[ASN][1000 genomes]
rs61959560	0.84[ASN][1000 genomes]
rs61959561	0.85[ASN][1000 genomes]
rs61959583	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs629443	0.93[ASN][1000 genomes]
rs9318380	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9530471	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9544049	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9544050	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9544051	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9544053	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76367000-76387000	Weak transcription	Ovary	ovary
3	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
4	chr13:76373000-76414600	Weak transcription	HMEC	breast
5	chr13:76373400-76387200	Weak transcription	Psoas Muscle	Psoas
6	chr13:76376800-76415400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:76377400-76386800	Weak transcription	Stomach Mucosa	stomach
8	chr13:76377400-76395000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:76377600-76387000	Weak transcription	Brain Germinal Matrix	brain
10	chr13:76377600-76387200	Weak transcription	Spleen	Spleen
11	chr13:76377600-76395200	Weak transcription	GM12878-XiMat	blood
12	chr13:76377600-76398600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr13:76377600-76415800	Weak transcription	Dnd41	blood
14	chr13:76377600-76416200	Weak transcription	A549	lung
15	chr13:76378200-76397800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:76378200-76415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:76378400-76392200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:76378400-76415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr13:76378800-76387000	Strong transcription	HSMM	muscle
20	chr13:76378800-76393200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:76379200-76394800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:76380400-76387200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:76380600-76387000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr13:76380600-76387200	Weak transcription	Pancreas	Pancrea
25	chr13:76380600-76387400	Weak transcription	Gastric	stomach
26	chr13:76380600-76388600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:76380600-76395200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:76380600-76397800	Weak transcription	Colonic Mucosa	Colon
29	chr13:76380600-76397800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr13:76380600-76398000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr13:76380600-76400400	Weak transcription	Esophagus	oesophagus
32	chr13:76380600-76405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:76380800-76386600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:76380800-76391200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:76380800-76392800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr13:76380800-76397800	Weak transcription	Brain Anterior Caudate	brain
37	chr13:76381000-76386200	Weak transcription	Aorta	Aorta
38	chr13:76381000-76386200	Weak transcription	Placenta	Placenta
39	chr13:76381000-76392400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr13:76382400-76386800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:76382400-76387200	Weak transcription	Lung	lung
42	chr13:76382400-76387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:76382400-76388400	Weak transcription	Fetal Muscle Leg	muscle
44	chr13:76382400-76391000	Weak transcription	Liver	Liver
45	chr13:76382400-76392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:76382400-76392400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:76382400-76392400	Weak transcription	NHLF	lung
48	chr13:76382600-76386200	Weak transcription	Fetal Stomach	stomach
49	chr13:76382600-76387000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:76382600-76387000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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