Variant report

Variant	rs72813815
Chromosome Location	chr5:114544875-114544876
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	PAX5	chr5:114544823-114545472	GM12878	blood:	n/a	n/a
2	MTA3	chr5:114544829-114545378	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:114544853-114545329	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:114544775-114545375	GM12892	blood:	n/a	n/a
5	BATF	chr5:114544874-114545373	GM12878	blood:	n/a	n/a
6	CEBPB	chr5:114544794-114545484	GM12878	blood:	n/a	n/a
7	SPI1	chr5:114544848-114545345	GM12891	blood:	n/a	n/a
8	SREBP1	chr5:114544668-114545613	GM12878	blood:	n/a	n/a
9	MEF2A	chr5:114544813-114545371	GM12878	blood:	n/a	n/a
10	POU2F2	chr5:114544832-114545372	GM12878	blood:	n/a	n/a
11	MTA3	chr5:114544764-114545436	GM12878	blood:	n/a	n/a
12	BCLAF1	chr5:114544838-114545432	GM12878	blood:	n/a	n/a
13	STAT5A	chr5:114544854-114545427	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:114544507-114544890	K562	blood:	n/a	n/a
15	PML	chr5:114544830-114545442	GM12878	blood:	n/a	n/a
16	SPI1	chr5:114544847-114545325	GM12878	blood:	n/a	n/a
17	NFATC1	chr5:114544850-114545390	GM12878	blood:	n/a	n/a
18	RUNX3	chr5:114544841-114545423	GM12878	blood:	n/a	n/a
19	TBP	chr5:114544857-114545249	GM12878	blood:	n/a	n/a
20	NFATC1	chr5:114544841-114545452	GM12878	blood:	n/a	n/a
21	PAX5	chr5:114544843-114545339	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:114544844-114545333	GM12891	blood:	n/a	n/a
23	NFIC	chr5:114544765-114545566	GM12878	blood:	n/a	chr5:114545151-114545179
24	POLR2A	chr5:114544836-114545385	GM12891	blood:	n/a	n/a
25	FOXM1	chr5:114544788-114545439	GM12878	blood:	n/a	n/a
26	ATF2	chr5:114544786-114545434	GM12878	blood:	n/a	n/a
27	RUNX3	chr5:114544815-114545509	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:114544858-114545360	GM12878	blood:	n/a	n/a
29	NFIC	chr5:114544805-114545550	GM12878	blood:	n/a	chr5:114545151-114545179
30	FOXM1	chr5:114544715-114545512	GM12878	blood:	n/a	n/a
31	SPI1	chr5:114544716-114545444	GM12878	blood:	n/a	n/a
32	PAX5	chr5:114544869-114545341	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248175	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs66611625	1.00[ASN][1000 genomes]
rs66995219	1.00[ASN][1000 genomes]
rs67430998	1.00[ASN][1000 genomes]
rs68086593	1.00[ASN][1000 genomes]
rs72813817	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72813822	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72813826	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72813828	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72813830	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72813833	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72813836	1.00[ASN][1000 genomes]
rs72813838	1.00[ASN][1000 genomes]
rs72813839	1.00[ASN][1000 genomes]
rs72813844	1.00[ASN][1000 genomes]
rs72813845	1.00[ASN][1000 genomes]
rs72813846	1.00[ASN][1000 genomes]
rs72813849	1.00[ASN][1000 genomes]
rs72813852	1.00[ASN][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	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv970018	chr5:114541040-114547642	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1029371	chr5:114541428-114590891	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114523400-114576200	Weak transcription	Psoas Muscle	Psoas
2	chr5:114528000-114563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:114529200-114562600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:114529800-114551000	Weak transcription	Left Ventricle	heart
5	chr5:114530200-114562600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:114530200-114562600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:114530600-114548600	Weak transcription	Fetal Intestine Large	intestine
8	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
9	chr5:114530800-114548000	Weak transcription	Adipose Nuclei	Adipose
10	chr5:114530800-114565200	Weak transcription	NHDF-Ad	bronchial
11	chr5:114531000-114546400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114531000-114547600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:114531000-114551200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:114531000-114558800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:114531200-114546400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:114531200-114548200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:114532000-114547000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:114533600-114551200	Weak transcription	HSMM	muscle
19	chr5:114533800-114549000	Weak transcription	Aorta	Aorta
20	chr5:114535200-114551200	Weak transcription	HSMMtube	muscle
21	chr5:114536000-114556000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:114538200-114548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:114538200-114551800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:114538400-114545000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:114538400-114548000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:114538400-114548200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:114538400-114567000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:114538400-114572000	Weak transcription	Lung	lung
29	chr5:114538600-114555200	Weak transcription	Placenta	Placenta
30	chr5:114538800-114550800	Weak transcription	Fetal Stomach	stomach
31	chr5:114539200-114580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:114539400-114547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:114539400-114548000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:114539800-114566000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:114540200-114546800	Weak transcription	HMEC	breast
36	chr5:114540800-114567600	Weak transcription	Hela-S3	cervix
37	chr5:114541000-114562000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:114541200-114548000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:114541400-114548200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:114541600-114545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:114541600-114551200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:114541800-114545000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:114541800-114548800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:114541800-114549000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:114541800-114573400	Weak transcription	NHLF	lung
46	chr5:114542000-114575800	Weak transcription	Small Intestine	intestine
47	chr5:114542600-114549000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:114543200-114548800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:114543400-114548600	Weak transcription	Ovary	ovary
50	chr5:114543400-114549800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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