Variant report

Variant	rs7179383
Chromosome Location	chr15:45123444-45123445
allele	G/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	GATA2	chr15:45122989-45123736	HUVEC	blood vessel:	n/a	chr15:45123252-45123259 chr15:45123213-45123222 chr15:45123208-45123222 chr15:45123213-45123222
2	RCOR1	chr15:45123141-45123755	K562	blood:	n/a	n/a
3	GATA2	chr15:45123095-45123695	K562	blood:	n/a	chr15:45123252-45123259 chr15:45123213-45123222 chr15:45123208-45123222 chr15:45123213-45123222
4	EP300	chr15:45122863-45123492	HepG2	liver:	n/a	n/a
5	SP1	chr15:45122868-45123491	HepG2	liver:	n/a	n/a
6	TBL1XR1	chr15:45123099-45123594	K562	blood:	n/a	n/a
7	CEBPB	chr15:45123438-45123599	K562	blood:	n/a	n/a
8	ATF1	chr15:45123175-45123515	K562	blood:	n/a	n/a
9	MYBL2	chr15:45122764-45123550	HepG2	liver:	n/a	n/a
10	NR2F2	chr15:45122877-45123551	K562	blood:	n/a	n/a
11	ARID3A	chr15:45123098-45123535	HepG2	liver:	n/a	n/a
12	TAL1	chr15:45123383-45123475	K562	blood:	n/a	n/a
13	MAX	chr15:45123414-45123604	K562	blood:	n/a	n/a
14	GATA1	chr15:45122999-45123911	K562	blood:	n/a	chr15:45123252-45123259 chr15:45123213-45123222 chr15:45123213-45123222
15	JUND	chr15:45123116-45123643	K562	blood:	n/a	n/a
16	TEAD4	chr15:45122949-45123449	HepG2	liver:	n/a	n/a
17	FOS	chr15:45123033-45123639	HUVEC	blood vessel:	n/a	chr15:45123285-45123296
18	ARID3A	chr15:45123189-45123508	K562	blood:	n/a	n/a
19	TEAD4	chr15:45123096-45123739	K562	blood:	n/a	n/a
20	EP300	chr15:45123120-45123680	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000259479	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3874244	1.00[JPT][hapmap]
rs4635288	1.00[EUR][1000 genomes]
rs5001467	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5001468	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57143310	1.00[ASN][1000 genomes]
rs59410642	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59664344	1.00[ASN][1000 genomes]
rs74009442	1.00[ASN][1000 genomes]
rs74009443	1.00[ASN][1000 genomes]
rs8037719	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv1048668	chr15:45094019-45284278	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1050650	chr15:45096539-45229584	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2753798	chr15:45100852-45145764	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1048867	chr15:45100852-45289756	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1036204	chr15:45105374-45284278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1047353	chr15:45105374-45289756	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1040940	chr15:45105374-45300844	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv2753133	chr15:45105876-45268182	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv34494	chr15:45105876-45268208	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1041613	chr15:45111367-45284278	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1053041	chr15:45117399-45289756	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2761871	chr15:45117411-45137994	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1040140	chr15:45121635-45289756	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45120400-45125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:45120400-45128400	Weak transcription	Spleen	Spleen
3	chr15:45120600-45124000	Enhancers	Pancreas	Pancrea
4	chr15:45120800-45129400	Enhancers	HepG2	liver
5	chr15:45120800-45131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:45121200-45123800	Enhancers	Stomach Mucosa	stomach
7	chr15:45121200-45124600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:45121400-45125200	Enhancers	Fetal Thymus	thymus
9	chr15:45121800-45123800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:45121800-45123800	Enhancers	Fetal Intestine Large	intestine
11	chr15:45121800-45124600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:45122600-45123600	Enhancers	Fetal Intestine Small	intestine
13	chr15:45122600-45123800	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:45122600-45123800	Enhancers	HMEC	breast
15	chr15:45122800-45123600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr15:45122800-45123800	Enhancers	Hela-S3	cervix
17	chr15:45122800-45123800	Enhancers	NHEK	skin
18	chr15:45122800-45124000	Enhancers	HUVEC	blood vessel
19	chr15:45123000-45123600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:45123000-45123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:45123000-45123600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr15:45123000-45123600	Enhancers	NH-A	brain
23	chr15:45123000-45123600	Enhancers	Osteobl	bone
24	chr15:45123000-45123800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:45123000-45123800	Enhancers	Primary hematopoietic stem cells	blood
26	chr15:45123000-45123800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:45123000-45123800	Enhancers	Esophagus	oesophagus
28	chr15:45123000-45123800	Enhancers	Fetal Heart	heart
29	chr15:45123000-45124000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr15:45123000-45125000	Enhancers	K562	blood
31	chr15:45123200-45123600	Enhancers	Placenta	Placenta
32	chr15:45123200-45123600	Flanking Active TSS	Dnd41	blood
33	chr15:45123200-45123800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:45123400-45123600	Enhancers	Liver	Liver
35	chr15:45123400-45123600	Enhancers	Sigmoid Colon	Sigmoid Colon

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