Variant report

Variant	rs7047517
Chromosome Location	chr9:95889280-95889281
allele	C/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	HEY1	chr9:95889004-95889667	HepG2	liver:	n/a	n/a
2	MXI1	chr9:95889175-95889576	HepG2	liver:	n/a	n/a
3	MAX	chr9:95889005-95889351	NB4	blood:	n/a	chr9:95889261-95889271
4	HDAC2	chr9:95889075-95889497	HepG2	liver:	n/a	n/a
5	CREB1	chr9:95889024-95889659	HepG2	liver:	n/a	n/a
6	TAF1	chr9:95889212-95889564	HepG2	liver:	n/a	n/a
7	YY1	chr9:95889118-95889607	HepG2	liver:	n/a	n/a
8	POLR2A	chr9:95889085-95889586	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:95889141-95889602	HepG2	liver:	n/a	n/a
10	MYBL2	chr9:95889061-95889557	HepG2	liver:	n/a	n/a
11	HNF4G	chr9:95889120-95889547	HepG2	liver:	n/a	n/a
12	TBP	chr9:95889188-95889565	HepG2	liver:	n/a	n/a
13	POLR2A	chr9:95889238-95889399	HUVEC	blood vessel:	n/a	n/a
14	JUND	chr9:95889205-95889404	HepG2	liver:	n/a	chr9:95889313-95889322
15	MYC	chr9:95889137-95889553	HepG2	liver:	n/a	chr9:95889401-95889411 chr9:95889261-95889271
16	MAZ	chr9:95889030-95889562	HepG2	liver:	n/a	chr9:95889401-95889411 chr9:95889261-95889271
17	EP300	chr9:95889070-95889526	HepG2	liver:	n/a	n/a
18	ZBTB7A	chr9:95889151-95889336	HepG2	liver:	n/a	n/a
19	POLR2A	chr9:95888966-95889549	HepG2	liver:	n/a	n/a
20	HNF4G	chr9:95889159-95889675	HepG2	liver:	n/a	n/a
21	HNF4A	chr9:95889137-95889687	HepG2	liver:	n/a	n/a
22	HNF4A	chr9:95889174-95889592	HepG2	liver:	n/a	n/a
23	POLR2A	chr9:95889004-95889817	HL-60	blood:	n/a	n/a
24	ARID3A	chr9:95889275-95889390	HepG2	liver:	n/a	n/a
25	RAD21	chr9:95889183-95889538	HepG2	liver:	n/a	n/a
26	POLR2A	chr9:95889133-95889825	HepG2	liver:	n/a	n/a
27	CREB1	chr9:95888949-95889702	HepG2	liver:	n/a	n/a
28	EGR1	chr9:95889086-95889631	MCF-7	breast:	n/a	chr9:95889323-95889333 chr9:95889262-95889272 chr9:95889321-95889334
29	EGR1	chr9:95888985-95889622	MCF-7	breast:	n/a	chr9:95889323-95889333 chr9:95889024-95889037 chr9:95889262-95889272 chr9:95889024-95889034 chr9:95889321-95889334
30	MYBL2	chr9:95889031-95889612	HepG2	liver:	n/a	n/a
31	RFX5	chr9:95889174-95889456	HepG2	liver:	n/a	n/a
32	POLR2A	chr9:95889191-95889611	HepG2	liver:	n/a	n/a
33	HEY1	chr9:95889087-95889620	HepG2	liver:	n/a	n/a
34	POLR2A	chr9:95889262-95889530	HepG2	liver:	n/a	n/a
35	EGR1	chr9:95889087-95889534	ECC-1	luminal epithelium:	n/a	chr9:95889323-95889333 chr9:95889262-95889272 chr9:95889321-95889334
36	GABPA	chr9:95889120-95889483	HepG2	liver:	n/a	n/a
37	POLR2A	chr9:95889008-95889684	HepG2	liver:	n/a	n/a
38	EGR1	chr9:95889156-95889426	K562	blood:	n/a	chr9:95889323-95889333 chr9:95889262-95889272 chr9:95889321-95889334
39	TAF1	chr9:95889106-95889613	HepG2	liver:	n/a	n/a
40	CHD2	chr9:95889168-95889506	HepG2	liver:	n/a	n/a
41	HNF4A	chr9:95889110-95889532	HepG2	liver:	n/a	n/a
42	EP300	chr9:95889053-95889601	HepG2	liver:	n/a	n/a
43	GABPA	chr9:95889132-95889498	HepG2	liver:	n/a	n/a
44	CTCF	chr9:95889180-95889330	HepG2	liver:	n/a	n/a
45	CEBPD	chr9:95889074-95889520	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:95888633-95889725	HepG2	liver:	n/a	n/a
47	RCOR1	chr9:95889241-95889811	HepG2	liver:	n/a	n/a
48	SPI1	chr9:95889215-95889511	HL-60	blood:	n/a	chr9:95889272-95889285 chr9:95889236-95889249

No.	Distal block	Cell Line	Cell type
1	chr9:95857275..95859572-chr9:95888374..95892185,3	MCF-7	breast:
2	chr9:95889078..95891579-chr9:95915235..95918056,2	MCF-7	breast:
3	chr9:95856977..95859126-chr9:95888088..95890598,2	MCF-7	breast:

Variant related genes	Relation type
NINJ1	TF binding region
ENSG00000223446	Chromatin interaction
ENSG00000165233	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13439888	1.00[EUR][1000 genomes]
rs28399238	1.00[EUR][1000 genomes]
rs28459029	1.00[EUR][1000 genomes]
rs28722632	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv893579	chr9:95855100-95923091	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv893581	chr9:95872216-95930334	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv614879	chr9:95883363-95897564	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95859600-95889400	Weak transcription	Fetal Kidney	kidney
2	chr9:95870000-95895400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:95871000-95894200	Weak transcription	Dnd41	blood
4	chr9:95883000-95894600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:95883000-95895000	Weak transcription	HSMMtube	muscle
6	chr9:95883000-95895000	Weak transcription	K562	blood
7	chr9:95885000-95895400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:95886000-95890600	Enhancers	Fetal Thymus	thymus
9	chr9:95886600-95889400	Weak transcription	GM12878-XiMat	blood
10	chr9:95886800-95895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr9:95887200-95891200	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr9:95887400-95890400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:95887400-95890800	Weak transcription	A549	lung
14	chr9:95887400-95891600	Weak transcription	Ovary	ovary
15	chr9:95887400-95893600	Weak transcription	NHLF	lung
16	chr9:95887600-95890800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr9:95887600-95894800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr9:95887800-95893400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr9:95887800-95894000	Weak transcription	Brain Germinal Matrix	brain
20	chr9:95888000-95890400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:95888000-95890800	Enhancers	Primary T cells from cord blood	blood
22	chr9:95888000-95890800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:95888000-95891600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:95888200-95889400	Weak transcription	Pancreas	Pancrea
25	chr9:95888200-95890000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:95888200-95890600	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:95888200-95890600	Weak transcription	Brain Angular Gyrus	brain
28	chr9:95888200-95891000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr9:95888200-95892200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr9:95888200-95893400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:95888200-95893400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr9:95888200-95894600	Weak transcription	Osteobl	bone
33	chr9:95888200-95895000	Enhancers	Esophagus	oesophagus
34	chr9:95888400-95889600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr9:95888400-95890200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:95888400-95890400	Enhancers	Brain Hippocampus Middle	brain
37	chr9:95888400-95890400	Genic enhancers	Fetal Intestine Small	intestine
38	chr9:95888400-95891000	Genic enhancers	Liver	Liver
39	chr9:95888400-95894200	Weak transcription	Hela-S3	cervix
40	chr9:95888400-95894800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr9:95888400-95895000	Enhancers	HUVEC	blood vessel
42	chr9:95888600-95889400	Enhancers	Right Atrium	heart
43	chr9:95888600-95889400	Enhancers	Small Intestine	intestine
44	chr9:95888600-95889600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:95888600-95889600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr9:95888600-95889800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:95888600-95889800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr9:95888600-95890000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr9:95888600-95890000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:95888600-95890000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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