Variant report

Variant	rs75800011
Chromosome Location	chr8:90914093-90914094
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	RAD21	chr8:90913891-90914613	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:90913985-90914183	A549	lung:	n/a	n/a
3	POLR2A	chr8:90913673-90916136	Hela-S3	cervix:	n/a	n/a
4	HDAC2	chr8:90913832-90914474	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF3	chr8:90914062-90915175	GM12878	blood:	n/a	n/a
6	SRF	chr8:90913866-90914957	ECC-1	luminal epithelium:	n/a	chr8:90914647-90914657
7	POLR2A	chr8:90913974-90915428	GM15510	blood:	n/a	n/a
8	SRF	chr8:90914000-90914582	GM12878	blood:	n/a	n/a
9	SP1	chr8:90913251-90914932	A549	lung:	n/a	chr8:90914762-90914771 chr8:90914227-90914239 chr8:90914752-90914761 chr8:90914752-90914761 chr8:90914227-90914239 chr8:90914761-90914773 chr8:90914762-90914776 chr8:90914097-90914106 chr8:90914228-90914238 chr8:90914761-90914773 chr8:90914751-90914763 chr8:90914095-90914106 chr8:90914753-90914762
10	POLR2A	chr8:90913967-90915398	K562	blood:	n/a	n/a
11	POLR2A	chr8:90914003-90915479	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr8:90913951-90914404	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCLAF1	chr8:90913912-90915243	GM12878	blood:	n/a	chr8:90914896-90914909 chr8:90914691-90914704 chr8:90914619-90914632 chr8:90914690-90914703 chr8:90914762-90914771 chr8:90914538-90914547
14	ZNF143	chr8:90914073-90914935	GM12878	blood:	n/a	n/a
15	STAT1	chr8:90913937-90914781	K562	blood:	n/a	chr8:90914193-90914202 chr8:90914188-90914208 chr8:90914188-90914208 chr8:90914194-90914203 chr8:90914194-90914202 chr8:90914192-90914203 chr8:90914064-90914076
16	ATF3	chr8:90913906-90914228	K562	blood:	n/a	n/a
17	RELA	chr8:90913957-90915340	GM18951	blood:	n/a	n/a
18	REST	chr8:90914011-90914687	A549	lung:	n/a	chr8:90914544-90914554 chr8:90914548-90914561
19	ELK4	chr8:90913890-90914747	Hela-S3	cervix:	n/a	chr8:90914195-90914206
20	POLR2A	chr8:90913752-90915437	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr8:90914014-90914140	GM12878	blood:	n/a	n/a
22	NR2F2	chr8:90913913-90914710	K562	blood:	n/a	n/a
23	CHD2	chr8:90914018-90915589	GM12878	blood:	n/a	chr8:90914652-90914662
24	TEAD4	chr8:90913892-90914903	K562	blood:	n/a	n/a
25	MXI1	chr8:90913766-90915355	GM12878	blood:	n/a	n/a
26	MXI1	chr8:90913955-90914900	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr8:90913902-90915452	H1-hESC	embryonic stem cell:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
28	ZBTB7A	chr8:90913939-90915299	K562	blood:	n/a	n/a
29	MAZ	chr8:90913833-90915394	GM12878	blood:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
30	GATA3	chr8:90913889-90915018	T-47D	breast:	n/a	chr8:90914769-90914778
31	EP300	chr8:90913879-90914241	H1-hESC	embryonic stem cell:	n/a	chr8:90914019-90914033
32	POLR2A	chr8:90913898-90915405	K562	blood:	n/a	n/a
33	ZEB1	chr8:90913996-90914491	GM12878	blood:	n/a	n/a
34	E2F6	chr8:90914068-90915219	K562	blood:	n/a	chr8:90914540-90914549 chr8:90914800-90914810 chr8:90914874-90914884 chr8:90914760-90914769
35	EP300	chr8:90913682-90914368	A549	lung:	n/a	chr8:90914019-90914033 chr8:90913699-90913713
36	USF2	chr8:90914093-90914749	GM12878	blood:	n/a	chr8:90914721-90914737 chr8:90914729-90914745
37	ZNF263	chr8:90914032-90915284	K562	blood:	n/a	n/a
38	CEBPB	chr8:90913792-90914324	ECC-1	luminal epithelium:	n/a	chr8:90914018-90914029 chr8:90913819-90913830
39	STAT1	chr8:90913901-90915443	Hela-S3	cervix:	n/a	chr8:90914193-90914202 chr8:90914188-90914208 chr8:90915080-90915092 chr8:90914188-90914208 chr8:90915068-90915075 chr8:90915367-90915390 chr8:90914194-90914203 chr8:90914194-90914202 chr8:90914192-90914203 chr8:90914064-90914076
40	ZEB1	chr8:90913921-90914854	HepG2	liver:	n/a	n/a
41	RCOR1	chr8:90913825-90914895	Hela-S3	cervix:	n/a	n/a
42	E2F4	chr8:90913962-90915395	K562	blood:	n/a	chr8:90914540-90914549 chr8:90914800-90914810 chr8:90914874-90914884 chr8:90914760-90914769
43	TCF7L2	chr8:90914060-90914364	PANC-1	pancreas:	n/a	n/a
44	SIN3AK20	chr8:90913437-90915573	MCF-7	breast:	n/a	n/a
45	MAX	chr8:90913871-90915358	HepG2	liver:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
46	POLR2A	chr8:90913651-90915360	MCF10A-Er-Src	breast:	n/a	n/a
47	SRF	chr8:90914026-90914359	K562	blood:	n/a	n/a
48	ZNF143	chr8:90913991-90914933	K562	blood:	n/a	n/a
49	MAX	chr8:90913848-90915430	A549	lung:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
50	GTF2F1	chr8:90913927-90914439	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90913376..90915525-chr8:90949213..90951083,2	K562	blood:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90913376..90915361-chr8:90949165..90951083,2	K562	blood:
4	chr22:38713895..38714396-chr8:90914003..90914699,2	Hela-S3	cervix:
5	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
6	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
7	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
8	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
9	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
10	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
11	chr8:90913489..90916241-chr8:91996581..91998462,2	K562	blood:
12	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
13	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:

Variant related genes	Relation type
RNU6-925P	TF binding region
OSGIN2	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000213923	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv3371037	chr8:90912579-90917077	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3328681	chr8:90913579-90916277	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3321826	chr8:90913604-90916152	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90912800-90916200	Active TSS	A549	lung
2	chr8:90913200-90914400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:90913200-90916000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:90913200-90917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:90913400-90914200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr8:90913400-90914200	Flanking Active TSS	Dnd41	blood
7	chr8:90913400-90915600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:90913400-90915600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:90913400-90916200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:90913400-90916200	Active TSS	HSMMtube	muscle
11	chr8:90913400-90916400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr8:90913400-90916400	Active TSS	Brain Substantia Nigra	brain
13	chr8:90913400-90916600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:90913400-90916800	Active TSS	Brain Anterior Caudate	brain
15	chr8:90913600-90914200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:90913600-90914200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:90913600-90914200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr8:90913600-90914200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr8:90913600-90914200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr8:90913600-90914200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr8:90913600-90914200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:90913600-90914200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr8:90913600-90914200	Flanking Active TSS	Liver	Liver
24	chr8:90913600-90914200	Flanking Active TSS	HUVEC	blood vessel
25	chr8:90913600-90914200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr8:90913600-90915600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:90913600-90915600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:90913600-90915600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:90913600-90915600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr8:90913600-90915600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr8:90913600-90915800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:90913600-90916000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:90913600-90916000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr8:90913600-90916000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:90913600-90916000	Active TSS	GM12878-XiMat	blood
36	chr8:90913600-90916200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:90913600-90916200	Active TSS	Fetal Kidney	kidney
38	chr8:90913600-90916400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:90913600-90916600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr8:90913600-90916600	Active TSS	Rectal Smooth Muscle	rectum
41	chr8:90913600-90916600	Active TSS	K562	blood
42	chr8:90913600-90916800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:90913600-90917000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:90913600-90917000	Active TSS	Stomach Smooth Muscle	stomach
45	chr8:90913800-90914200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:90913800-90914200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr8:90913800-90914200	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr8:90913800-90914200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr8:90913800-90914200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr8:90913800-90914200	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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