Variant report

Variant	rs114975927
Chromosome Location	chr8:90914391-90914392
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	chr8:90913673-90916136	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr8:90914217-90914679	K562	blood:	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	TBP	chr8:90914120-90914869	GM12878	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	E2F1	chr8:90914365-90915348	Hela-S3	cervix:	n/a	chr8:90914540-90914549 chr8:90914800-90914810 chr8:90914874-90914884 chr8:90914760-90914769
22	POLR2A	chr8:90914253-90915153	HUVEC	blood vessel:	n/a	n/a
23	NR2F2	chr8:90913913-90914710	K562	blood:	n/a	n/a
24	CHD2	chr8:90914018-90915589	GM12878	blood:	n/a	chr8:90914652-90914662
25	TEAD4	chr8:90913892-90914903	K562	blood:	n/a	n/a
26	MXI1	chr8:90913766-90915355	GM12878	blood:	n/a	n/a
27	TAF1	chr8:90914273-90914672	GM12892	blood:	n/a	n/a
28	MXI1	chr8:90913955-90914900	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr8:90913902-90915452	H1-hESC	embryonic stem cell:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
30	ZBTB7A	chr8:90913939-90915299	K562	blood:	n/a	n/a
31	MAZ	chr8:90913833-90915394	GM12878	blood:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
32	GATA3	chr8:90913889-90915018	T-47D	breast:	n/a	chr8:90914769-90914778
33	POLR2A	chr8:90913898-90915405	K562	blood:	n/a	n/a
34	ZEB1	chr8:90913996-90914491	GM12878	blood:	n/a	n/a
35	E2F6	chr8:90914068-90915219	K562	blood:	n/a	chr8:90914540-90914549 chr8:90914800-90914810 chr8:90914874-90914884 chr8:90914760-90914769
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	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
39	ZEB1	chr8:90913921-90914854	HepG2	liver:	n/a	n/a
40	RCOR1	chr8:90913825-90914895	Hela-S3	cervix:	n/a	n/a
41	E2F4	chr8:90913962-90915395	K562	blood:	n/a	chr8:90914540-90914549 chr8:90914800-90914810 chr8:90914874-90914884 chr8:90914760-90914769
42	TAF1	chr8:90914367-90914980	PFSK-1	brain:	n/a	n/a
43	REST	chr8:90914348-90914893	ECC-1	luminal epithelium:	n/a	chr8:90914544-90914554 chr8:90914753-90914766 chr8:90914548-90914561
44	SIN3AK20	chr8:90913437-90915573	MCF-7	breast:	n/a	n/a
45	POLR2A	chr8:90914181-90914927	HepG2	liver:	n/a	n/a
46	MAX	chr8:90913871-90915358	HepG2	liver:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
47	POLR2A	chr8:90913651-90915360	MCF10A-Er-Src	breast:	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	chr13:45915420..45916021-chr8:90914250..90914915,2	NB4	blood:
3	chr6:74225553..74226354-chr8:90914190..90914714,2	Hela-S3	cervix:
4	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
5	chr8:90914281..90916675-chr8:91011002..91013854,2	MCF-7	breast:
6	chr8:90913376..90915361-chr8:90949165..90951083,2	K562	blood:
7	chr22:38713895..38714396-chr8:90914003..90914699,2	Hela-S3	cervix:
8	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
9	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
10	chr8:90914226..90916241-chr8:91996581..91998635,2	K562	blood:
11	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
12	chr1:147806427..147807197-chr8:90914369..90915257,2	Hela-S3	cervix:
13	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
14	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
15	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
16	chr8:90913489..90916241-chr8:91996581..91998462,2	K562	blood:
17	chr8:90860556..90861077-chr8:90914154..90914756,2	MCF-7	breast:
18	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
19	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:

Variant related genes	Relation type
OSGIN2	TF binding region
RNU6-925P	TF binding region
ENSG00000104325	Chromatin interaction
ENSG00000170919	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000133112	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000213923	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000253250	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	chr8:90913400-90915600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:90913400-90915600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:90913400-90916200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:90913400-90916200	Active TSS	HSMMtube	muscle
9	chr8:90913400-90916400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:90913400-90916400	Active TSS	Brain Substantia Nigra	brain
11	chr8:90913400-90916600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:90913400-90916800	Active TSS	Brain Anterior Caudate	brain
13	chr8:90913600-90915600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:90913600-90915600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:90913600-90915600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:90913600-90915600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:90913600-90915600	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr8:90913600-90915800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:90913600-90916000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:90913600-90916000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:90913600-90916000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:90913600-90916000	Active TSS	GM12878-XiMat	blood
23	chr8:90913600-90916200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:90913600-90916200	Active TSS	Fetal Kidney	kidney
25	chr8:90913600-90916400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:90913600-90916600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:90913600-90916600	Active TSS	Rectal Smooth Muscle	rectum
28	chr8:90913600-90916600	Active TSS	K562	blood
29	chr8:90913600-90916800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:90913600-90917000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:90913600-90917000	Active TSS	Stomach Smooth Muscle	stomach
32	chr8:90913800-90914400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr8:90913800-90914400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:90913800-90914400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr8:90913800-90914400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr8:90913800-90915000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:90913800-90915400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:90913800-90915400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr8:90913800-90915400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr8:90913800-90915400	Active TSS	Small Intestine	intestine
41	chr8:90913800-90915600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:90913800-90915600	Active TSS	Brain Hippocampus Middle	brain
43	chr8:90913800-90915600	Active TSS	Colonic Mucosa	Colon
44	chr8:90913800-90915600	Active TSS	Psoas Muscle	Psoas
45	chr8:90913800-90915600	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr8:90913800-90915600	Active TSS	Stomach Mucosa	stomach
47	chr8:90913800-90915800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:90913800-90915800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr8:90913800-90915800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:90913800-90915800	Active TSS	Fetal Brain Female	brain

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