Variant report

Variant	rs28460815
Chromosome Location	chr5:112196595-112196596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:282)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112196591-112197293	K562	blood:	n/a	n/a
2	POLR2A	chr5:112196532-112197461	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:112196589-112197351	MCF-7	breast:	n/a	n/a
4	ATF2	chr5:112196495-112197247	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:112196558-112197337	HL-60	blood:	n/a	n/a
6	MYC	chr5:112196532-112197159	MCF10A-Er-Src	breast:	n/a	n/a
7	GABPA	chr5:112196423-112197466	SK-N-SH	brain:	n/a	n/a
8	MYC	chr5:112196590-112197018	MCF-7	breast:	n/a	n/a
9	BCL3	chr5:112196455-112197385	A549	lung:	n/a	n/a
10	CHD2	chr5:112196468-112197406	H1-hESC	embryonic stem cell:	n/a	chr5:112196847-112196856
11	CREB1	chr5:112196580-112197227	H1-hESC	embryonic stem cell:	n/a	chr5:112196869-112196882
12	CBX3	chr5:112196279-112197366	K562	blood:	n/a	n/a
13	POLR2A	chr5:112196363-112197431	GM12892	blood:	n/a	n/a
14	MAX	chr5:112196476-112197401	K562	blood:	n/a	n/a
15	SP1	chr5:112196577-112197173	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB33	chr5:112196582-112197138	HCT-116	colon:	n/a	chr5:112196842-112196857 chr5:112196847-112196856
17	ZBTB33	chr5:112196377-112197197	A549	lung:	n/a	chr5:112196842-112196857 chr5:112196847-112196856
18	POLR2A	chr5:112196467-112197248	SK-N-MC	brain:	n/a	n/a
19	TBL1XR1	chr5:112196535-112197388	K562	blood:	n/a	n/a
20	MAX	chr5:112196518-112197271	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:112195942-112197882	GM12891	blood:	n/a	n/a
22	CEBPB	chr5:112196450-112197033	K562	blood:	n/a	chr5:112196569-112196580
23	MAX	chr5:112196570-112197174	HUVEC	blood vessel:	n/a	n/a
24	ATF3	chr5:112196492-112197292	A549	lung:	n/a	n/a
25	ZBTB33	chr5:112196555-112197082	K562	blood:	n/a	chr5:112196842-112196857 chr5:112196847-112196856
26	PML	chr5:112196557-112197301	MCF-7	breast:	n/a	n/a
27	TAF1	chr5:112196538-112197459	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr5:112196595-112197261	K562	blood:	n/a	n/a
29	POLR2A	chr5:112196541-112197279	SK-N-SH	brain:	n/a	n/a
30	MAX	chr5:112196381-112197370	K562	blood:	n/a	n/a
31	POLR2A	chr5:112196526-112197483	PANC-1	pancreas:	n/a	n/a
32	HEY1	chr5:112196578-112197296	K562	blood:	n/a	n/a
33	MAX	chr5:112196515-112197128	H1-hESC	embryonic stem cell:	n/a	n/a
34	GATA1	chr5:112196494-112197594	PBDE	blood:	n/a	n/a
35	HEY1	chr5:112196563-112197274	K562	blood:	n/a	n/a
36	GABPA	chr5:112196507-112197541	SK-N-SH	brain:	n/a	n/a
37	TCF12	chr5:112196549-112197140	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:112196567-112197402	ECC-1	luminal epithelium:	n/a	n/a
39	REST	chr5:112196464-112197269	A549	lung:	n/a	chr5:112197149-112197169 chr5:112197149-112197169
40	POLR2A	chr5:112196591-112197338	GM12891	blood:	n/a	n/a
41	POLR2A	chr5:112196581-112197296	H1-hESC	embryonic stem cell:	n/a	n/a
42	E2F6	chr5:112196327-112197391	K562	blood:	n/a	chr5:112196846-112196858
43	POLR2A	chr5:112196117-112197595	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr5:112196546-112197421	GM12892	blood:	n/a	n/a
45	HCFC1	chr5:112196534-112197392	K562	blood:	n/a	n/a
46	POLR2A	chr5:112196490-112197406	GM12891	blood:	n/a	n/a
47	MAX	chr5:112196504-112197290	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:112196300-112197558	H1-hESC	embryonic stem cell:	n/a	n/a
49	STAT5A	chr5:112196384-112197330	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:112196463-112197435	Hela-S3	cervix:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112196028..112199860-chr5:112256680..112260462,5	MCF-7	breast:
2	chr5:112195906..112198557-chr5:112198644..112200582,4	MCF-7	breast:
3	chr5:112195408..112199487-chr5:112199566..112202603,4	K562	blood:
4	chr5:112195538..112198310-chr5:112312375..112313895,2	K562	blood:
5	chr5:112195332..112197808-chr5:112240725..112243513,2	K562	blood:
6	chr5:112172653..112174509-chr5:112195056..112196675,2	MCF-7	breast:
7	chr5:112041706..112044186-chr5:112195413..112197519,3	MCF-7	breast:
8	chr17:11899966..11900746-chr5:112196414..112197075,2	Hela-S3	cervix:
9	chr5:112194408..112196977-chr5:112198175..112200544,3	MCF-7	breast:
10	chr5:112196139..112198613-chr5:112233393..112236476,4	K562	blood:
11	chr5:112152202..112156283-chr5:112195630..112198484,4	MCF-7	breast:
12	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
13	chr5:112188139..112189765-chr5:112194415..112196734,2	K562	blood:
14	chr5:112196522..112198362-chr5:112219263..112221236,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272869	TF binding region
SRP19	TF binding region
ENSG00000154957	Chromatin interaction
ENSG00000266499	Chromatin interaction
ENSG00000172795	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000272389	Chromatin interaction
ENSG00000134982	Chromatin interaction
ENSG00000249947	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10078107	0.81[AFR][1000 genomes]
rs10477484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13354540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134945	0.80[EUR][1000 genomes]
rs2229994	0.86[EUR][1000 genomes]
rs34083474	1.00[EUR][1000 genomes]
rs41296563	1.00[EUR][1000 genomes]
rs61995948	1.00[EUR][1000 genomes]
rs73220036	1.00[EUR][1000 genomes]
rs73220037	0.87[EUR][1000 genomes]
rs7735066	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112196000-112198000	Active TSS	GM12878-XiMat	blood
2	chr5:112196200-112196600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:112196200-112196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112196200-112196600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112196200-112196600	Flanking Active TSS	Liver	Liver
6	chr5:112196200-112196600	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr5:112196200-112196600	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr5:112196200-112196600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr5:112196200-112196600	Enhancers	Spleen	Spleen
10	chr5:112196200-112196800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:112196200-112196800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr5:112196200-112196800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr5:112196200-112196800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr5:112196200-112196800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr5:112196200-112196800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr5:112196200-112196800	Flanking Active TSS	Dnd41	blood
17	chr5:112196200-112196800	Flanking Active TSS	Hela-S3	cervix
18	chr5:112196200-112197800	Active TSS	Brain Angular Gyrus	brain
19	chr5:112196200-112197800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:112196200-112197800	Active TSS	Rectal Smooth Muscle	rectum
21	chr5:112196200-112198200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr5:112196200-112198200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:112196400-112196600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr5:112196400-112196600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:112196400-112196600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:112196400-112196600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:112196400-112196600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:112196400-112196600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:112196400-112196600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112196400-112196600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:112196400-112196600	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr5:112196400-112196600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr5:112196400-112196600	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr5:112196400-112196600	Flanking Active TSS	Left Ventricle	heart
35	chr5:112196400-112196600	Flanking Active TSS	Thymus	Thymus
36	chr5:112196400-112196600	Enhancers	HepG2	liver
37	chr5:112196400-112196800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr5:112196400-112196800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:112196400-112196800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:112196400-112196800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr5:112196400-112196800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr5:112196400-112196800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr5:112196400-112196800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr5:112196400-112196800	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr5:112196400-112196800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr5:112196400-112196800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr5:112196400-112196800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:112196400-112196800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr5:112196400-112196800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:112196400-112196800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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