Variant report

Variant	rs73759431
Chromosome Location	chr5:60140805-60140806
allele	A/G
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	chr5:60139678-60141218	MCF10A-Er-Src	breast:	n/a	n/a
2	MAZ	chr5:60139285-60140837	K562	blood:	n/a	chr5:60140433-60140442
3	JUN	chr5:60139793-60141030	K562	blood:	n/a	chr5:60139981-60139989 chr5:60140432-60140442
4	BACH1	chr5:60140730-60140830	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ELOVL7	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs16878535	1.00[AMR][1000 genomes]
rs16878537	1.00[AMR][1000 genomes]
rs16878539	1.00[AMR][1000 genomes]
rs16878544	1.00[AMR][1000 genomes]
rs3910825	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647116	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647131	0.89[AFR][1000 genomes]
rs55638584	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55659107	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56020025	1.00[AMR][1000 genomes]
rs56043434	1.00[AMR][1000 genomes]
rs56071223	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56113732	1.00[AMR][1000 genomes]
rs56256328	1.00[AMR][1000 genomes]
rs56287212	1.00[AMR][1000 genomes]
rs56306823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56320246	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56376821	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56386934	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57251027	1.00[AMR][1000 genomes]
rs57366470	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57521420	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930565	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60239490	1.00[AMR][1000 genomes]
rs6449516	1.00[AMR][1000 genomes]
rs6860439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6869855	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870631	1.00[AMR][1000 genomes]
rs6881713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6881960	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759411	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759422	1.00[AMR][1000 genomes]
rs73759426	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759434	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759436	0.89[AFR][1000 genomes]
rs73759437	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759441	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759445	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759447	1.00[AMR][1000 genomes]
rs73759450	1.00[AMR][1000 genomes]
rs73759452	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759454	1.00[AMR][1000 genomes]
rs73759455	1.00[AMR][1000 genomes]
rs73759456	1.00[AMR][1000 genomes]
rs73759457	1.00[AMR][1000 genomes]
rs73759458	1.00[AMR][1000 genomes]
rs73759459	1.00[AMR][1000 genomes]
rs73759461	1.00[AMR][1000 genomes]
rs73759468	1.00[AMR][1000 genomes]
rs73759469	1.00[AMR][1000 genomes]
rs73759470	1.00[AMR][1000 genomes]
rs73759471	1.00[AMR][1000 genomes]
rs7701959	1.00[AMR][1000 genomes]
rs7717284	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2763456	chr5:60007355-60151767	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1026190	chr5:60020156-60148535	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv537769	chr5:60020156-60148535	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60138400-60141200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:60138600-60141000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:60138800-60141000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:60139200-60141000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:60139200-60141000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:60139400-60141200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:60139600-60141200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:60140000-60141000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:60140000-60141000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:60140000-60141000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:60140200-60141000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:60140400-60141000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:60140400-60141000	Bivalent Enhancer	Fetal Heart	heart
14	chr5:60140400-60141000	Flanking Active TSS	Hela-S3	cervix
15	chr5:60140400-60141200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:60140600-60141000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:60140600-60141000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr5:60140600-60141000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:60140600-60141000	Flanking Active TSS	A549	lung
20	chr5:60140600-60141000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr5:60140800-60141000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:60140800-60141000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:60140800-60141000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr5:60140800-60141000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:60140800-60141000	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr5:60140800-60141000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:60140800-60141000	Enhancers	Brain Anterior Caudate	brain
28	chr5:60140800-60141000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:60140800-60141000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:60140800-60141000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
31	chr5:60140800-60141000	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr5:60140800-60141000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:60140800-60141000	Enhancers	GM12878-XiMat	blood
34	chr5:60140800-60141000	Bivalent Enhancer	HepG2	liver
35	chr5:60140800-60141000	Flanking Active TSS	HMEC	breast
36	chr5:60140800-60141200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr5:60140800-60141200	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:60140800-60141200	Enhancers	Brain Angular Gyrus	brain
39	chr5:60140800-60141200	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr5:60140800-60141200	Bivalent Enhancer	Placenta	Placenta

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