Variant report

Variant	rs10095911
Chromosome Location	chr8:62623854-62623855
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	CTCF	chr8:62623720-62623870	GM12875	blood:	n/a	n/a
2	SMC3	chr8:62623010-62624059	SK-N-SH	brain:	n/a	chr8:62623706-62623720
3	SMC3	chr8:62623581-62623868	K562	blood:	n/a	chr8:62623706-62623720
4	SIN3AK20	chr8:62623534-62623980	A549	lung:	n/a	n/a
5	RAD21	chr8:62623521-62624019	HCT-116	colon:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
6	RAD21	chr8:62623420-62623916	MCF-7	breast:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
7	CTCF	chr8:62623740-62623890	HAc	cerebellar:	n/a	n/a
8	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
9	FOXA2	chr8:62623440-62623946	A549	lung:	n/a	chr8:62623824-62623836
10	BCL3	chr8:62622937-62626728	A549	lung:	n/a	chr8:62622975-62622984 chr8:62623067-62623076 chr8:62626676-62626685
11	CTCF	chr8:62623534-62623923	MCF-7	breast:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
12	CEBPB	chr8:62622909-62623992	A549	lung:	n/a	chr8:62623272-62623283
13	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a
14	RAD21	chr8:62623087-62623902	IMR90	lung:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
15	FOXA1	chr8:62623240-62623887	HepG2	liver:	n/a	chr8:62623824-62623836 chr8:62623750-62623765
16	MXI1	chr8:62623678-62624207	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr8:62623720-62623870	NB4	blood:	n/a	n/a
18	CTCF	chr8:62623532-62623879	H1-hESC	embryonic stem cell:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
19	CTCF	chr8:62623417-62623997	HCT-116	colon:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
20	RCOR1	chr8:62623414-62623868	K562	blood:	n/a	n/a
21	FOXA1	chr8:62623625-62623883	HepG2	liver:	n/a	chr8:62623824-62623836 chr8:62623750-62623765
22	POLR2A	chr8:62623280-62623925	K562	blood:	n/a	n/a
23	EP300	chr8:62623542-62623894	K562	blood:	n/a	chr8:62623823-62623833 chr8:62623751-62623761
24	POLR2A	chr8:62620948-62624035	U87	brain:	n/a	n/a
25	EBF1	chr8:62623119-62623937	GM12878	blood:	n/a	n/a
26	CTCF	chr8:62623484-62623949	MCF-7	breast:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
27	RAD21	chr8:62623399-62624029	HCT-116	colon:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
28	CTCF	chr8:62623379-62624276	IMR90	lung:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
29	CTCF	chr8:62623820-62623970	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr8:62623800-62623950	GM12867	blood:	n/a	n/a
31	CTCF	chr8:62623720-62623870	HAc	cerebellar:	n/a	n/a
32	TCF12	chr8:62622969-62628409	A549	lung:	n/a	n/a
33	RAD21	chr8:62623561-62623881	H1-hESC	embryonic stem cell:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
34	MXI1	chr8:62623527-62623877	HepG2	liver:	n/a	n/a
35	CTCF	chr8:62623490-62623864	A549	lung:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
36	CTCF	chr8:62623524-62623854	K562	blood:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
37	ATF3	chr8:62623320-62624096	A549	lung:	n/a	n/a
38	RAD21	chr8:62623263-62623912	GM12878	blood:	n/a	chr8:62623711-62623720 chr8:62623702-62623721
39	FOXA1	chr8:62623533-62623984	T-47D	breast:	n/a	chr8:62623824-62623836 chr8:62623750-62623765
40	IRF3	chr8:62623658-62623857	GM12878	blood:	n/a	n/a
41	CTCF	chr8:62623334-62623915	K562	blood:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
42	FOXA2	chr8:62623643-62623919	HepG2	liver:	n/a	chr8:62623824-62623836
43	SIX5	chr8:62622210-62626661	A549	lung:	n/a	chr8:62624442-62624451
44	CTCF	chr8:62623586-62623868	HUVEC	blood vessel:	n/a	chr8:62623705-62623721 chr8:62623699-62623720 chr8:62623704-62623722 chr8:62623711-62623718 chr8:62623653-62623661
45	MAX	chr8:62623587-62623886	NB4	blood:	n/a	n/a
46	GTF2F1	chr8:62623079-62623935	Hela-S3	cervix:	n/a	n/a
47	FOSL2	chr8:62622834-62624069	A549	lung:	n/a	chr8:62624031-62624043
48	CTCF	chr8:62623760-62623910	HFF-Myc	foreskin:	n/a	n/a
49	STAT3	chr8:62623292-62623912	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr8:62623062-62623866	Hela-S3	cervix:	n/a	chr8:62623272-62623283

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	chr8:62565425..62565962-chr8:62623306..62624081,2	MCF-7	breast:
4	chr8:62612675..62615533-chr8:62623174..62625946,2	MCF-7	breast:
5	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
6	chr8:62605925..62608885-chr8:62622452..62624247,2	MCF-7	breast:
7	chr8:62621847..62624556-chr8:62711277..62713553,2	K562	blood:
8	chr8:62623830..62626750-chr8:62657804..62660228,2	K562	blood:
9	chr8:62538409..62541040-chr8:62622650..62625118,2	K562	blood:
10	chr8:62619459..62621551-chr8:62623294..62626246,2	MCF-7	breast:
11	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
12	chr8:62567262..62573065-chr8:62621554..62624953,7	K562	blood:
13	chr8:62564124..62567084-chr8:62621412..62624391,3	MCF-7	breast:

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10107157	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:6 , 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
5	esv3387274	chr8:62623635-62624488	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3342680	chr8:62623645-62624486	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

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	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
5	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
6	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
7	chr8:62614000-62624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:62617600-62624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:62617800-62624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:62618400-62624600	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:62618600-62624200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:62619200-62624600	Weak transcription	Fetal Thymus	thymus
13	chr8:62619200-62625000	Enhancers	Fetal Heart	heart
14	chr8:62620000-62624400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:62620000-62624600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:62620200-62624600	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:62620600-62624200	Enhancers	HSMM	muscle
18	chr8:62620800-62624000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:62620800-62624200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:62621000-62624200	Enhancers	Liver	Liver
21	chr8:62621200-62624200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:62621200-62624200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:62621400-62624200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:62621600-62624200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:62621800-62624400	Weak transcription	Fetal Stomach	stomach
26	chr8:62621800-62624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:62622000-62624600	Enhancers	Fetal Intestine Small	intestine
28	chr8:62622200-62624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:62622200-62624600	Weak transcription	Aorta	Aorta
30	chr8:62622200-62624600	Weak transcription	Ovary	ovary
31	chr8:62622200-62624600	Weak transcription	Psoas Muscle	Psoas
32	chr8:62622200-62626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:62622200-62626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:62622200-62626200	Weak transcription	Pancreas	Pancrea
35	chr8:62622200-62626400	Weak transcription	Gastric	stomach
36	chr8:62622400-62624200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:62622400-62626000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:62622400-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:62622600-62625800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:62622800-62624000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:62622800-62624000	Enhancers	Brain Hippocampus Middle	brain
42	chr8:62622800-62624400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:62622800-62624400	Enhancers	Fetal Intestine Large	intestine
44	chr8:62622800-62624400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr8:62622800-62624400	Flanking Active TSS	Osteobl	bone
46	chr8:62622800-62624600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:62622800-62624800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:62622800-62627600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:62623000-62624200	Enhancers	Primary B cells from cord blood	blood
50	chr8:62623000-62624200	Enhancers	Brain Cingulate Gyrus	brain

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