Variant report

Variant	rs10107157
Chromosome Location	chr8:62623162-62623163
allele	C/T
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	SMC3	chr8:62623010-62624059	SK-N-SH	brain:	n/a	chr8:62623706-62623720
2	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
3	BCL3	chr8:62622937-62626728	A549	lung:	n/a	chr8:62622975-62622984 chr8:62623067-62623076 chr8:62626676-62626685
4	CEBPB	chr8:62622909-62623992	A549	lung:	n/a	chr8:62623272-62623283
5	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a
6	RAD21	chr8:62623087-62623902	IMR90	lung:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
7	STAT3	chr8:62622945-62623655	MCF10A-Er-Src	breast:	n/a	chr8:62623065-62623076
8	FOS	chr8:62623070-62623748	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr8:62623083-62623843	K562	blood:	n/a	chr8:62623272-62623283
10	POLR2A	chr8:62622997-62623197	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:62623105-62623800	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr8:62623075-62623431	K562	blood:	n/a	chr8:62623272-62623283
13	POLR2A	chr8:62620948-62624035	U87	brain:	n/a	n/a
14	EBF1	chr8:62623119-62623937	GM12878	blood:	n/a	n/a
15	TCF12	chr8:62622969-62628409	A549	lung:	n/a	n/a
16	PRDM1	chr8:62623004-62623795	Hela-S3	cervix:	n/a	chr8:62623063-62623077 chr8:62623064-62623077 chr8:62623064-62623073
17	IKZF1	chr8:62622733-62623315	GM12878	blood:	n/a	chr8:62622830-62622838
18	SIX5	chr8:62622210-62626661	A549	lung:	n/a	chr8:62624442-62624451
19	GTF2F1	chr8:62623079-62623935	Hela-S3	cervix:	n/a	n/a
20	FOSL2	chr8:62622834-62624069	A549	lung:	n/a	chr8:62624031-62624043
21	FOS	chr8:62623089-62623849	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr8:62623062-62623866	Hela-S3	cervix:	n/a	chr8:62623272-62623283
23	MYC	chr8:62623108-62623865	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr8:62622743-62623871	Hela-S3	cervix:	n/a	chr8:62623823-62623833 chr8:62623751-62623761 chr8:62623269-62623283
25	STAT3	chr8:62623154-62623374	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr8:62622946-62628108	A549	lung:	n/a	chr8:62626370-62626379 chr8:62627005-62627021 chr8:62627011-62627027 chr8:62624213-62624227 chr8:62624029-62624043 chr8:62625613-62625627 chr8:62623823-62623833 chr8:62623751-62623761 chr8:62625013-62625021 chr8:62623269-62623283 chr8:62627288-62627304 chr8:62627012-62627028 chr8:62627697-62627706 chr8:62624040-62624054 chr8:62627488-62627504
27	POLR2A	chr8:62620561-62626562	K562	blood:	n/a	n/a
28	BRCA1	chr8:62622929-62623955	Hela-S3	cervix:	n/a	n/a
29	BATF	chr8:62623071-62623557	GM12878	blood:	n/a	n/a
30	CEBPB	chr8:62623128-62623495	A549	lung:	n/a	chr8:62623272-62623283
31	POLR2A	chr8:62620532-62628356	U87	brain:	n/a	n/a
32	CTCF	chr8:62623111-62624048	SK-N-SH	brain:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
33	CHD1	chr8:62622453-62628339	IMR90	lung:	n/a	chr8:62627291-62627301 chr8:62627210-62627220 chr8:62626642-62626652 chr8:62627205-62627215 chr8:62628180-62628190
34	TBP	chr8:62623059-62623940	GM12878	blood:	n/a	n/a
35	CTCF	chr8:62622400-62624112	A549	lung:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623082-62623091 chr8:62623711-62623718 chr8:62623653-62623661
36	POLR2A	chr8:62622492-62628360	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr8:62622301-62628049	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr8:62622510-62624035	U87	brain:	n/a	n/a
39	POLR2A	chr8:62623108-62623902	HCT-116	colon:	n/a	n/a
40	MAX	chr8:62623108-62624069	A549	lung:	n/a	n/a
41	RCOR1	chr8:62623100-62623901	Hela-S3	cervix:	n/a	n/a
42	EP300	chr8:62623113-62623858	GM12878	blood:	n/a	chr8:62623823-62623833 chr8:62623751-62623761 chr8:62623269-62623283
43	CEBPB	chr8:62623055-62623906	A549	lung:	n/a	chr8:62623272-62623283
44	CEBPB	chr8:62623069-62623859	IMR90	lung:	n/a	chr8:62623272-62623283
45	POLR2A	chr8:62623010-62623314	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr8:62623080-62623230	NHEK	skin:	n/a	chr8:62623082-62623091
47	POLR2A	chr8:62622659-62628358	IMR90	lung:	n/a	n/a
48	POLR2A	chr8:62622600-62625968	HepG2	liver:	n/a	n/a
49	REST	chr8:62622835-62628111	A549	lung:	n/a	chr8:62627068-62627088 chr8:62627041-62627059 chr8:62627069-62627087 chr8:62627082-62627092 chr8:62627080-62627094
50	JUND	chr8:62623142-62623315	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62620828..62625218-chr8:62625341..62628340,6	MCF-7	breast:
2	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
3	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
4	chr8:62605925..62608885-chr8:62622452..62624247,2	MCF-7	breast:
5	chr8:62621847..62624556-chr8:62711277..62713553,2	K562	blood:
6	chr8:62620565..62623407-chr8:62786770..62788455,2	K562	blood:
7	chr8:62538409..62541040-chr8:62622650..62625118,2	K562	blood:
8	chr8:62620081..62623599-chr8:62678566..62680861,4	K562	blood:
9	chr8:62622252..62623796-chr8:64080473..64083451,2	K562	blood:
10	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
11	chr8:62567262..62573065-chr8:62621554..62624953,7	K562	blood:
12	chr8:62564124..62567084-chr8:62621412..62624391,3	MCF-7	breast:

Variant related genes	Relation type
MIR4470	TF binding region
ENSG00000198363	Chromatin interaction
ENSG00000264408	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000185728	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10095911	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439225	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2015490	1.00[CEU][hapmap]
rs28587878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28793942	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3195249	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73269297	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73269300	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73269302	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73271212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73271213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:62613000-62626400	Weak transcription	Lung	lung
4	chr8:62613800-62623200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
6	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
7	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
8	chr8:62614000-62624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:62617600-62624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:62617800-62624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:62618400-62624600	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:62618600-62624200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:62619200-62624600	Weak transcription	Fetal Thymus	thymus
14	chr8:62619200-62625000	Enhancers	Fetal Heart	heart
15	chr8:62619600-62623400	Weak transcription	Fetal Brain Male	brain
16	chr8:62619800-62623200	Enhancers	HMEC	breast
17	chr8:62620000-62623600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:62620000-62623600	Transcr. at gene 5' and 3'	A549	lung
19	chr8:62620000-62624400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:62620000-62624600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:62620200-62624600	Enhancers	Primary hematopoietic stem cells	blood
22	chr8:62620400-62623600	Enhancers	HSMMtube	muscle
23	chr8:62620600-62623200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:62620600-62623600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:62620600-62624200	Enhancers	HSMM	muscle
26	chr8:62620800-62623800	Enhancers	HUVEC	blood vessel
27	chr8:62620800-62624000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:62620800-62624200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:62621000-62623200	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:62621000-62623400	Enhancers	Stomach Mucosa	stomach
31	chr8:62621000-62623600	Flanking Active TSS	NH-A	brain
32	chr8:62621000-62624200	Enhancers	Liver	Liver
33	chr8:62621200-62623200	Enhancers	Colon Smooth Muscle	Colon
34	chr8:62621200-62623200	Enhancers	Small Intestine	intestine
35	chr8:62621200-62623400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr8:62621200-62624200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:62621200-62624200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:62621400-62624200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:62621600-62623400	Flanking Active TSS	GM12878-XiMat	blood
40	chr8:62621600-62624200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:62621800-62623400	Enhancers	Brain Substantia Nigra	brain
42	chr8:62621800-62624400	Weak transcription	Fetal Stomach	stomach
43	chr8:62621800-62624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:62622000-62623200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:62622000-62623200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr8:62622000-62624600	Enhancers	Fetal Intestine Small	intestine
47	chr8:62622200-62623200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:62622200-62624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:62622200-62624600	Weak transcription	Aorta	Aorta
50	chr8:62622200-62624600	Weak transcription	Ovary	ovary

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