Variant report

Variant	rs57716828
Chromosome Location	chr15:43419731-43419732
allele	A/C
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	HEY1	chr15:43419695-43420235	HepG2	liver:	n/a	n/a
2	FOXA1	chr15:43419692-43420275	HepG2	liver:	n/a	n/a
3	FOXA2	chr15:43419547-43420451	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43415478..43417953-chr15:43419432..43421358,2	K562	blood:
2	chr15:43419346..43423038-chr15:43423294..43427155,3	K562	blood:

Variant related genes	Relation type
SPCS2P1	TF binding region
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12324573	1.00[AMR][1000 genomes]
rs58941543	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43415600-43425200	Weak transcription	Gastric	stomach
2	chr15:43415800-43419800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:43415800-43419800	Weak transcription	Liver	Liver
4	chr15:43415800-43425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:43415800-43425000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr15:43415800-43425000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:43415800-43425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:43415800-43425000	Weak transcription	Aorta	Aorta
9	chr15:43415800-43425000	Weak transcription	Brain Anterior Caudate	brain
10	chr15:43415800-43425200	Weak transcription	Esophagus	oesophagus
11	chr15:43416200-43419800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:43416200-43419800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:43416200-43419800	Weak transcription	A549	lung
14	chr15:43416200-43425000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr15:43416800-43419800	Enhancers	Fetal Intestine Large	intestine
16	chr15:43417000-43420600	Enhancers	Fetal Intestine Small	intestine
17	chr15:43417600-43419800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr15:43417600-43425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:43417600-43425000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:43417800-43420000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr15:43418000-43420200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr15:43418000-43422200	Enhancers	HepG2	liver
23	chr15:43418200-43422000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr15:43418400-43425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:43419200-43419800	Enhancers	Small Intestine	intestine
26	chr15:43419200-43420000	Enhancers	Pancreas	Pancrea
27	chr15:43419400-43420400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr15:43419600-43419800	Enhancers	Colonic Mucosa	Colon
29	chr15:43419600-43420000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr15:43419600-43420000	Enhancers	Stomach Mucosa	stomach

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