Variant report

Variant	rs7840156
Chromosome Location	chr8:120885944-120885945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:283)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:283 , 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	chr8:120885738-120886995	HL-60	blood:	n/a	n/a
2	TAF1	chr8:120885685-120886456	ECC-1	luminal epithelium:	n/a	n/a
3	YY1	chr8:120885780-120886635	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr8:120885878-120886119	U87	brain:	n/a	n/a
5	SMC3	chr8:120885464-120887258	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr8:120885729-120886429	NB4	blood:	n/a	n/a
7	YY1	chr8:120885716-120886383	K562	blood:	n/a	n/a
8	SIN3A	chr8:120885693-120887176	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr8:120885748-120886903	A549	lung:	n/a	n/a
10	CHD1	chr8:120885930-120886092	GM12878	blood:	n/a	n/a
11	RCOR1	chr8:120885607-120886995	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:120885795-120886416	ECC-1	luminal epithelium:	n/a	n/a
13	KAP1	chr8:120885652-120886287	U2OS	brain:	n/a	n/a
14	TBL1XR1	chr8:120885928-120886160	K562	blood:	n/a	n/a
15	FOS	chr8:120885838-120886032	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA1	chr8:120885433-120886061	HepG2	liver:	n/a	n/a
17	CREB1	chr8:120885648-120886361	GM12878	blood:	n/a	n/a
18	MXI1	chr8:120885617-120886989	HepG2	liver:	n/a	n/a
19	MAX	chr8:120885636-120886643	A549	lung:	n/a	n/a
20	SIX5	chr8:120885788-120886103	K562	blood:	n/a	n/a
21	POLR2A	chr8:120885607-120886571	Hela-S3	cervix:	n/a	n/a
22	EP300	chr8:120885579-120887328	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr8:120885878-120886525	A549	lung:	n/a	n/a
24	TCF7L2	chr8:120885748-120887102	Hela-S3	cervix:	n/a	n/a
25	SP1	chr8:120885592-120886269	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:120885756-120886628	MCF-7	breast:	n/a	n/a
27	SRF	chr8:120885704-120886271	ECC-1	luminal epithelium:	n/a	n/a
28	WRNIP1	chr8:120885917-120886216	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:120885910-120886524	A549	lung:	n/a	n/a
30	POLR2A	chr8:120885734-120886365	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr8:120885699-120887051	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr8:120885920-120886070	HRE	kidney:	n/a	n/a
33	MYC	chr8:120885560-120887207	A549	lung:	n/a	n/a
34	TAF1	chr8:120885735-120886280	A549	lung:	n/a	n/a
35	YY1	chr8:120885779-120886406	K562	blood:	n/a	n/a
36	POLR2A	chr8:120885587-120886184	HepG2	liver:	n/a	n/a
37	YY1	chr8:120885709-120886434	A549	lung:	n/a	n/a
38	SIN3A	chr8:120885695-120886203	GM12878	blood:	n/a	n/a
39	SRF	chr8:120885749-120885984	HepG2	liver:	n/a	n/a
40	SIN3AK20	chr8:120885403-120887346	MCF-7	breast:	n/a	n/a
41	CHD2	chr8:120885624-120887078	Hela-S3	cervix:	n/a	n/a
42	EBF1	chr8:120885843-120886478	GM12878	blood:	n/a	n/a
43	HDAC2	chr8:120885887-120886278	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr8:120885932-120886173	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr8:120885791-120886559	SK-N-SH	brain:	n/a	n/a
46	MYBL2	chr8:120885795-120886395	HepG2	liver:	n/a	n/a
47	MAX	chr8:120885543-120886617	ECC-1	luminal epithelium:	n/a	n/a
48	SP1	chr8:120885679-120886190	H1-hESC	embryonic stem cell:	n/a	n/a
49	TBP	chr8:120885784-120886217	K562	blood:	n/a	n/a
50	FOXP2	chr8:120885579-120886575	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
2	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:
3	chr8:120843931..120845591-chr8:120884671..120887601,2	MCF-7	breast:
4	chr8:120867684..120870037-chr8:120884451..120886345,2	K562	blood:
5	chr8:120883686..120886465-chr8:121071792..121074526,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSCC1-1	chr8:120885061-120886728	ENSG00000245330.4

No data

Variant related genes	Relation type
DEPTOR	TF binding region
ENSG00000187955	Chromatin interaction
ENSG00000064313	Chromatin interaction
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12548715	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893258	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984977	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2326379	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571066	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870986	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870988	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870991	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871744	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5022559	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980679	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981618	0.92[ASN][1000 genomes]
rs6982701	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000669	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7013639	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7018286	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703111	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703112	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703114	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73703115	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840728	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955372	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120885400-120886000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:120885400-120886000	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr8:120885400-120886000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr8:120885400-120886000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:120885400-120886000	Enhancers	Fetal Heart	heart
6	chr8:120885400-120886000	Enhancers	Fetal Lung	lung
7	chr8:120885400-120886000	Enhancers	Fetal Stomach	stomach
8	chr8:120885400-120886000	Active TSS	GM12878-XiMat	blood
9	chr8:120885400-120886600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:120885400-120886800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:120885400-120887000	Active TSS	Fetal Brain Female	brain
12	chr8:120885400-120887400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr8:120885400-120887800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:120885600-120886000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:120885600-120886000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:120885600-120886000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:120885600-120886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:120885600-120886000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:120885600-120886000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:120885600-120886000	Enhancers	Colonic Mucosa	Colon
21	chr8:120885600-120886000	Enhancers	NHDF-Ad	bronchial
22	chr8:120885600-120886000	Enhancers	NHLF	lung
23	chr8:120885600-120886800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr8:120885600-120886800	Active TSS	Thymus	Thymus
25	chr8:120885600-120886800	Flanking Active TSS	Dnd41	blood
26	chr8:120885600-120887000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:120885600-120887000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:120885600-120887000	Active TSS	Fetal Brain Male	brain
29	chr8:120885600-120887000	Active TSS	Left Ventricle	heart
30	chr8:120885600-120887200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:120885600-120887200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:120885600-120887200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:120885600-120887200	Active TSS	Right Ventricle	heart
34	chr8:120885600-120887200	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr8:120885600-120887400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:120885600-120887400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:120885600-120888200	Active TSS	Brain Hippocampus Middle	brain
38	chr8:120885600-120888200	Active TSS	Psoas Muscle	Psoas
39	chr8:120885600-120888200	Active TSS	Right Atrium	heart
40	chr8:120885600-120889000	Active TSS	Ovary	ovary
41	chr8:120885600-120890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:120885800-120886000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:120885800-120886000	Active TSS	Primary hematopoietic stem cells	blood
44	chr8:120885800-120886000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr8:120885800-120886000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:120885800-120886000	Active TSS	HepG2	liver
47	chr8:120885800-120886000	Enhancers	HMEC	breast
48	chr8:120885800-120886200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:120885800-120886200	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr8:120885800-120886200	Active TSS	Adipose Nuclei	Adipose

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