Variant report

Variant	rs72935616
Chromosome Location	chr1:79098942-79098943
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	POLR2A	chr1:79098588-79099821	GM12878	blood:	n/a	n/a
2	NFATC1	chr1:79098544-79100583	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:79096841-79099634	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:79098746-79099439	GM12878	blood:	n/a	n/a
5	SPI1	chr1:79098786-79098989	GM12878	blood:	n/a	n/a
6	FOXM1	chr1:79098714-79099341	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:79098766-79099559	GM15510	blood:	n/a	n/a
8	POLR2A	chr1:79096933-79100963	GM12892	blood:	n/a	n/a
9	POU2F2	chr1:79098705-79099342	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:79098903-79098960	Hela-S3	cervix:	n/a	n/a
11	MTA3	chr1:79098558-79099407	GM12878	blood:	n/a	n/a
12	BCLAF1	chr1:79098766-79099277	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:79098550-79099443	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:79097425-79101215	GM18526	blood:	n/a	n/a
15	POLR2A	chr1:79098563-79102229	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:79098542-79099432	GM12891	blood:	n/a	n/a
17	POLR2A	chr1:79096918-79102226	GM12891	blood:	n/a	n/a
18	POLR2A	chr1:79098568-79099492	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:79098598-79099467	GM12878	blood:	n/a	n/a
20	PAX5	chr1:79098630-79099387	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:79098550-79099551	GM12892	blood:	n/a	n/a
22	POU2F2	chr1:79098753-79099318	GM12891	blood:	n/a	n/a
23	POLR2A	chr1:79096239-79101625	GM18505	blood:	n/a	n/a
24	STAT5A	chr1:79098899-79099339	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:79096934-79102165	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:79098488-79099477	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:79098520-79099490	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:79097417-79101604	GM19193	blood:	n/a	n/a
29	NFATC1	chr1:79098449-79099475	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:79096204-79100638	GM19099	blood:	n/a	n/a
31	POLR2A	chr1:79098533-79099519	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:79098581-79099488	GM12891	blood:	n/a	n/a
33	POLR2A	chr1:79098516-79099614	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:79098648-79099482	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
IFI44L	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12088246	1.00[EUR][1000 genomes]
rs57564445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61324182	1.00[EUR][1000 genomes]
rs72933702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72935624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517603	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv871140	chr1:79095581-79155134	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79086800-79108800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:79088600-79110600	Weak transcription	Fetal Thymus	thymus
3	chr1:79089400-79107200	Weak transcription	Ovary	ovary
4	chr1:79089800-79115000	Weak transcription	Small Intestine	intestine
5	chr1:79090800-79110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:79090800-79110000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:79094400-79110600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:79094600-79110000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:79094600-79110200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:79094600-79115200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:79095000-79107200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:79097600-79099600	ZNF genes & repeats	GM12878-XiMat	blood
13	chr1:79097800-79103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:79098600-79099400	Weak transcription	Left Ventricle	heart
15	chr1:79098800-79099200	ZNF genes & repeats	Esophagus	oesophagus
16	chr1:79098800-79099400	ZNF genes & repeats	Aorta	Aorta
17	chr1:79098800-79099400	ZNF genes & repeats	Fetal Muscle Leg	muscle

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