Variant report

Variant	rs59410642
Chromosome Location	chr15:45123054-45123055
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	FOXA2	chr15:45122904-45123198	HepG2	liver:	n/a	n/a
2	TCF7L2	chr15:45122957-45123422	Hela-S3	cervix:	n/a	chr15:45123108-45123124 chr15:45123108-45123124 chr15:45123109-45123123 chr15:45123112-45123121
3	GATA2	chr15:45122989-45123736	HUVEC	blood vessel:	n/a	chr15:45123252-45123259 chr15:45123213-45123222 chr15:45123208-45123222 chr15:45123213-45123222
4	ELF1	chr15:45122966-45123206	K562	blood:	n/a	n/a
5	FOXA1	chr15:45122898-45123352	HepG2	liver:	n/a	n/a
6	FOSL2	chr15:45122863-45123372	HepG2	liver:	n/a	n/a
7	ELF1	chr15:45122974-45123193	HepG2	liver:	n/a	n/a
8	EP300	chr15:45122863-45123492	HepG2	liver:	n/a	n/a
9	JUND	chr15:45122937-45123234	HepG2	liver:	n/a	n/a
10	FOXA1	chr15:45122875-45123339	HepG2	liver:	n/a	n/a
11	STAT3	chr15:45123005-45123315	MCF10A-Er-Src	breast:	n/a	chr15:45123162-45123173 chr15:45123164-45123172
12	FOXA1	chr15:45122845-45123377	HepG2	liver:	n/a	n/a
13	JUND	chr15:45122864-45123351	HepG2	liver:	n/a	n/a
14	SP1	chr15:45122868-45123491	HepG2	liver:	n/a	n/a
15	TCF12	chr15:45122991-45123244	HepG2	liver:	n/a	n/a
16	MYBL2	chr15:45122764-45123550	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:45122542-45123294	Hela-S3	cervix:	n/a	n/a
18	NR2F2	chr15:45122877-45123551	K562	blood:	n/a	n/a
19	MYBL2	chr15:45122876-45123359	HepG2	liver:	n/a	n/a
20	NFIC	chr15:45122948-45123378	HepG2	liver:	n/a	n/a
21	GATA1	chr15:45122999-45123911	K562	blood:	n/a	chr15:45123252-45123259 chr15:45123213-45123222 chr15:45123213-45123222
22	TEAD4	chr15:45122949-45123449	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:45122812-45123306	Hela-S3	cervix:	n/a	n/a
24	FOS	chr15:45123033-45123639	HUVEC	blood vessel:	n/a	chr15:45123285-45123296

Variant related genes	Relation type
ENSG00000259479	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
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	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59664344	1.00[ASN][1000 genomes]
rs7179383	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009442	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74009443	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8037719	0.89[AMR][1000 genomes];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:44 , 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	chr15:45120800-45123200	Weak transcription	Placenta	Placenta
5	chr15:45120800-45123400	Weak transcription	Liver	Liver
6	chr15:45120800-45129400	Enhancers	HepG2	liver
7	chr15:45120800-45131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:45121200-45123800	Enhancers	Stomach Mucosa	stomach
9	chr15:45121200-45124600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:45121400-45125200	Enhancers	Fetal Thymus	thymus
11	chr15:45121600-45123200	Enhancers	Dnd41	blood
12	chr15:45121800-45123800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:45121800-45123800	Enhancers	Fetal Intestine Large	intestine
14	chr15:45121800-45124600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:45122000-45123200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:45122200-45123200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:45122200-45123200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:45122600-45123200	Enhancers	Lung	lung
19	chr15:45122600-45123600	Enhancers	Fetal Intestine Small	intestine
20	chr15:45122600-45123800	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:45122600-45123800	Enhancers	HMEC	breast
22	chr15:45122800-45123400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr15:45122800-45123400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr15:45122800-45123600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr15:45122800-45123800	Enhancers	Hela-S3	cervix
26	chr15:45122800-45123800	Enhancers	NHEK	skin
27	chr15:45122800-45124000	Enhancers	HUVEC	blood vessel
28	chr15:45123000-45123400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:45123000-45123400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:45123000-45123400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:45123000-45123400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr15:45123000-45123400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr15:45123000-45123600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:45123000-45123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:45123000-45123600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr15:45123000-45123600	Enhancers	NH-A	brain
37	chr15:45123000-45123600	Enhancers	Osteobl	bone
38	chr15:45123000-45123800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:45123000-45123800	Enhancers	Primary hematopoietic stem cells	blood
40	chr15:45123000-45123800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:45123000-45123800	Enhancers	Esophagus	oesophagus
42	chr15:45123000-45123800	Enhancers	Fetal Heart	heart
43	chr15:45123000-45124000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr15:45123000-45125000	Enhancers	K562	blood

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