Variant report

Variant	rs6891519
Chromosome Location	chr5:59925959-59925960
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	CEBPB	chr5:59925823-59926056	A549	lung:	n/a	chr5:59925948-59925959
2	POLR2A	chr5:59923838-59926299	K562	blood:	n/a	n/a
3	CEBPB	chr5:59925804-59926104	IMR90	lung:	n/a	chr5:59925948-59925959
4	CEBPB	chr5:59925789-59926077	K562	blood:	n/a	chr5:59925948-59925959
5	CEBPB	chr5:59925771-59926079	HepG2	liver:	n/a	chr5:59925948-59925959
6	CEBPB	chr5:59925937-59926027	H1-hESC	embryonic stem cell:	n/a	chr5:59925948-59925959

Variant related genes	Relation type
ENSG00000251303	TF binding region
DEPDC1B	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13153359	1.00[YRI][hapmap]
rs13358053	0.89[YRI][hapmap]
rs4307050	0.88[YRI][hapmap]
rs56147294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56814521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59913390	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs702564	0.87[YRI][hapmap]
rs73759329	1.00[AMR][1000 genomes]
rs73759337	1.00[AMR][1000 genomes]
rs73759359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759371	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759383	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59891200-59926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:59894400-59926600	Weak transcription	Thymus	Thymus
3	chr5:59894800-59933600	Weak transcription	Hela-S3	cervix
4	chr5:59899400-59928000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:59909200-59927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:59909400-59928800	Weak transcription	HMEC	breast
7	chr5:59911800-59926000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:59911800-59926000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:59911800-59926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:59915800-59926200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:59920400-59939800	Weak transcription	HSMM	muscle
12	chr5:59920600-59947800	Weak transcription	HUVEC	blood vessel
13	chr5:59921600-59926400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:59922000-59930200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:59922200-59926200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:59922600-59926800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:59922800-59926200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:59922800-59926200	Weak transcription	Fetal Stomach	stomach
19	chr5:59923400-59926000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:59923400-59926200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:59923400-59931800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:59923400-59939800	Weak transcription	K562	blood
23	chr5:59923600-59931200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:59923800-59933400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:59924000-59926000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:59924000-59928800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:59924200-59926000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:59924200-59926000	Weak transcription	NHEK	skin
29	chr5:59924200-59926200	Weak transcription	Aorta	Aorta
30	chr5:59924200-59928200	Weak transcription	GM12878-XiMat	blood
31	chr5:59924200-59929400	Strong transcription	Placenta	Placenta
32	chr5:59924400-59926800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:59924400-59928000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:59924400-59930200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:59924400-59941800	Weak transcription	Fetal Brain Female	brain
36	chr5:59924600-59928400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:59924600-59930400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:59924600-59936200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:59924800-59926200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:59924800-59926800	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:59924800-59926800	Strong transcription	A549	lung
42	chr5:59924800-59927000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:59924800-59929400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:59924800-59929400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:59924800-59930200	Strong transcription	HepG2	liver
46	chr5:59924800-59936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:59925000-59927400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:59925000-59927400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr5:59925000-59927400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:59925000-59928000	Weak transcription	Lung	lung

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