Variant report

Variant	rs2972764
Chromosome Location	chr5:42814157-42814158
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr5:42813969-42814417	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:42813650-42814342	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr5:42813588-42814709	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:42813682-42814303	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:42813802-42814551	GM12878	blood:	n/a	n/a
6	TAF1	chr5:42813667-42814373	H1-hESC	embryonic stem cell:	n/a	n/a
7	PAX5	chr5:42813921-42814462	GM12878	blood:	n/a	n/a
8	TCF12	chr5:42813974-42814336	GM12878	blood:	n/a	n/a
9	BATF	chr5:42813967-42814491	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:42813986-42814343	GM12878	blood:	n/a	n/a
11	SPI1	chr5:42813950-42814421	GM12878	blood:	n/a	n/a
12	BATF	chr5:42813972-42814543	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:42814039-42814223	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:42813758-42814551	GM12892	blood:	n/a	n/a
15	SIN3AK20	chr5:42814017-42814286	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:42813991-42814476	GM12891	blood:	n/a	n/a
17	TAF1	chr5:42814027-42814371	GM12892	blood:	n/a	n/a
18	PAX5	chr5:42813982-42814344	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:42813916-42814546	GM12878	blood:	n/a	n/a
20	EP300	chr5:42814000-42814234	GM12878	blood:	n/a	n/a
21	POU2F2	chr5:42813895-42814543	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:42813964-42814490	GM12878	blood:	n/a	n/a
23	EBF1	chr5:42813976-42814466	GM12878	blood:	n/a	n/a
24	SP1	chr5:42814149-42814514	GM12878	blood:	n/a	n/a
25	SIN3AK20	chr5:42814015-42814377	HepG2	liver:	n/a	n/a
26	JUND	chr5:42813961-42814340	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:42814008-42814423	Hela-S3	cervix:	n/a	n/a
28	FOSL2	chr5:42813777-42814369	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:42813793-42814619	GM12892	blood:	n/a	n/a
30	EBF1	chr5:42813894-42814496	GM12878	blood:	n/a	n/a
31	HEY1	chr5:42813831-42814173	HepG2	liver:	n/a	n/a
32	GABPA	chr5:42814063-42814294	Hela-S3	cervix:	n/a	n/a
33	IRF4	chr5:42813913-42814519	GM12878	blood:	n/a	n/a
34	POU2F2	chr5:42813984-42814343	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:42813996-42814346	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:42813916-42814519	GM12892	blood:	n/a	n/a
37	IRF4	chr5:42813879-42814543	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
SEPP1	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10041130	0.82[ASN][1000 genomes]
rs12652476	0.81[ASN][1000 genomes]
rs12654861	0.81[ASN][1000 genomes]
rs12656017	0.87[ASN][1000 genomes]
rs12658099	0.84[ASN][1000 genomes]
rs1423655	0.84[ASN][1000 genomes]
rs16872680	0.81[ASN][1000 genomes]
rs16872694	0.81[ASN][1000 genomes]
rs16872756	0.87[ASN][1000 genomes]
rs16872762	0.90[ASN][1000 genomes]
rs16872777	0.90[ASN][1000 genomes]
rs16872791	0.90[ASN][1000 genomes]
rs16872824	0.86[ASN][1000 genomes]
rs16872825	0.86[ASN][1000 genomes]
rs17839373	0.81[ASN][1000 genomes]
rs17839374	0.81[ASN][1000 genomes]
rs230808	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs230809	0.84[ASN][1000 genomes]
rs230811	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2548719	0.83[ASN][1000 genomes]
rs28918068	0.87[ASN][1000 genomes]
rs28919894	0.90[ASN][1000 genomes]
rs28919901	0.90[ASN][1000 genomes]
rs28919903	0.90[ASN][1000 genomes]
rs2910854	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2910860	0.84[ASN][1000 genomes]
rs2910863	0.84[ASN][1000 genomes]
rs2910866	0.84[ASN][1000 genomes]
rs2910879	0.81[ASN][1000 genomes]
rs2972752	0.81[ASN][1000 genomes]
rs2972768	0.81[ASN][1000 genomes]
rs2972769	0.81[ASN][1000 genomes]
rs2972782	0.81[ASN][1000 genomes]
rs2972995	0.84[ASN][1000 genomes]
rs2973004	0.84[ASN][1000 genomes]
rs2973009	0.82[ASN][1000 genomes]
rs2973016	0.81[ASN][1000 genomes]
rs2973019	0.81[ASN][1000 genomes]
rs34382565	0.81[ASN][1000 genomes]
rs35604733	0.81[ASN][1000 genomes]
rs6182	0.81[ASN][1000 genomes]
rs6184	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
15	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
16	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42812200-42814200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr5:42812200-42815000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:42812400-42814600	Flanking Active TSS	HepG2	liver
4	chr5:42812600-42814200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:42812600-42814200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:42812600-42814200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:42812600-42814800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:42812800-42814800	Weak transcription	Right Atrium	heart
9	chr5:42813200-42824400	Weak transcription	Adipose Nuclei	Adipose
10	chr5:42813400-42814200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:42813400-42814200	Enhancers	Esophagus	oesophagus
12	chr5:42813600-42814200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:42813600-42814200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:42813600-42814200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr5:42813800-42814200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:42813800-42814200	Active TSS	Brain Anterior Caudate	brain
17	chr5:42813800-42814200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:42813800-42814800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:42813800-42815800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:42813800-42816000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:42813800-42817200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:42814000-42814200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:42814000-42814200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:42814000-42814200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:42814000-42814200	Active TSS	Brain Cingulate Gyrus	brain
26	chr5:42814000-42819600	Enhancers	Liver	Liver
27	chr5:42814000-42821200	Weak transcription	Brain Substantia Nigra	brain

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