Variant report

Variant	rs28542248
Chromosome Location	chr15:72081816-72081817
allele	A/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	BCL3	chr15:72081788-72082308	GM12878	blood:	n/a	n/a
2	MAX	chr15:72081521-72082084	HepG2	liver:	n/a	n/a
3	NFATC1	chr15:72081789-72082365	GM12878	blood:	n/a	n/a
4	MAX	chr15:72081692-72081876	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:71418567..71420752-chr15:72081777..72084193,2	MCF-7	breast:
2	chr15:72081235..72083430-chr15:72092419..72093932,2	MCF-7	breast:

Variant related genes	Relation type
NR2E3	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10048041	1.00[AMR][1000 genomes]
rs10518975	1.00[AMR][1000 genomes]
rs13329355	1.00[AMR][1000 genomes]
rs13379549	1.00[AMR][1000 genomes]
rs13379635	1.00[AMR][1000 genomes]
rs16956213	1.00[AMR][1000 genomes]
rs16956251	1.00[AMR][1000 genomes]
rs16956307	1.00[AMR][1000 genomes]
rs16956355	1.00[AMR][1000 genomes]
rs28405881	1.00[AMR][1000 genomes]
rs28478122	1.00[AMR][1000 genomes]
rs28556992	1.00[AMR][1000 genomes]
rs28589295	1.00[AMR][1000 genomes]
rs56820256	1.00[AMR][1000 genomes]
rs59572935	1.00[AMR][1000 genomes]
rs61026619	1.00[AMR][1000 genomes]
rs7176558	1.00[AMR][1000 genomes]
rs73432496	1.00[AMR][1000 genomes]
rs73432498	1.00[AMR][1000 genomes]
rs73434307	1.00[AMR][1000 genomes]
rs73434311	1.00[AMR][1000 genomes]
rs73434331	1.00[AMR][1000 genomes]
rs73434332	1.00[AMR][1000 genomes]
rs73434358	1.00[AMR][1000 genomes]
rs73434377	1.00[AMR][1000 genomes]
rs73434390	1.00[AMR][1000 genomes]
rs73434401	1.00[AMR][1000 genomes]
rs73436314	1.00[AMR][1000 genomes]
rs73436315	1.00[AMR][1000 genomes]
rs73436318	1.00[AMR][1000 genomes]
rs748471	1.00[AMR][1000 genomes]
rs748473	1.00[AMR][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	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72064400-72082000	Weak transcription	Pancreas	Pancrea
2	chr15:72064600-72082400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:72064600-72082400	Weak transcription	NHEK	skin
4	chr15:72070200-72082000	Weak transcription	Esophagus	oesophagus
5	chr15:72070200-72082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:72070800-72082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:72072000-72093200	Weak transcription	Fetal Stomach	stomach
8	chr15:72072800-72082400	Weak transcription	HSMMtube	muscle
9	chr15:72073200-72082000	Weak transcription	Fetal Kidney	kidney
10	chr15:72074600-72082000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:72076000-72082800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:72076000-72099000	Weak transcription	Right Atrium	heart
13	chr15:72076400-72084400	Weak transcription	Fetal Heart	heart
14	chr15:72076400-72084400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:72077200-72082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:72079200-72082400	Weak transcription	HSMM	muscle
17	chr15:72079400-72085200	Enhancers	HUVEC	blood vessel
18	chr15:72080800-72084800	Enhancers	Fetal Intestine Small	intestine
19	chr15:72080800-72085200	Enhancers	Fetal Intestine Large	intestine
20	chr15:72080800-72085200	Enhancers	Placenta	Placenta
21	chr15:72081000-72082000	Enhancers	HepG2	liver
22	chr15:72081200-72083600	Enhancers	A549	lung
23	chr15:72081400-72085200	Enhancers	HMEC	breast
24	chr15:72081800-72082000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:72081800-72083000	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:72081800-72085200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:72081800-72085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:72081800-72085200	Enhancers	Rectal Mucosa Donor 31	rectum

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