Variant report

Variant	rs565127901
Chromosome Location	chr9:108006591-108006592
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:603)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:108006407-108007039	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr9:108006395-108006955	GM12878	blood:	n/a	chr9:108006752-108006761 chr9:108006777-108006786
3	MEF2A	chr9:108006365-108006946	GM12878	blood:	n/a	n/a
4	GATA3	chr9:108006297-108006936	T-47D	breast:	n/a	chr9:108006396-108006412
5	ELK1	chr9:108006368-108006779	K562	blood:	n/a	n/a
6	MAX	chr9:108006171-108007606	HepG2	liver:	n/a	chr9:108007445-108007455
7	KAP1	chr9:108006267-108006781	U2OS	brain:	n/a	n/a
8	NFIC	chr9:108006291-108006968	ECC-1	luminal epithelium:	n/a	n/a
9	ZMIZ1	chr9:108006438-108006819	K562	blood:	n/a	n/a
10	TAF1	chr9:108006463-108006892	SK-N-SH	brain:	n/a	n/a
11	TAF7	chr9:108006393-108007157	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr9:108006461-108006822	HepG2	liver:	n/a	n/a
13	MAX	chr9:108006438-108006928	HepG2	liver:	n/a	n/a
14	NFIC	chr9:108006476-108006827	HepG2	liver:	n/a	n/a
15	CTCF	chr9:108006580-108006730	BJ	skin:	n/a	n/a
16	EP300	chr9:108006273-108006899	K562	blood:	n/a	n/a
17	FOS	chr9:108006519-108006829	MCF10A-Er-Src	breast:	n/a	n/a
18	RFX5	chr9:108006479-108006803	GM12878	blood:	n/a	n/a
19	EP300	chr9:108006307-108006965	T-47D	breast:	n/a	n/a
20	MBD4	chr9:108006252-108006891	HepG2	liver:	n/a	n/a
21	ELF1	chr9:108006391-108006803	A549	lung:	n/a	n/a
22	CEBPB	chr9:108006323-108006966	Hela-S3	cervix:	n/a	n/a
23	EP300	chr9:108006488-108006890	H1-hESC	embryonic stem cell:	n/a	n/a
24	GABPA	chr9:108006266-108007017	MCF-7	breast:	n/a	chr9:108006752-108006761 chr9:108006777-108006786
25	USF1	chr9:108006377-108006930	A549	lung:	n/a	n/a
26	TCF12	chr9:108006469-108006775	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIX5	chr9:108006428-108006762	GM12878	blood:	n/a	n/a
28	PML	chr9:108006458-108006715	GM12878	blood:	n/a	n/a
29	USF1	chr9:108006381-108006758	A549	lung:	n/a	n/a
30	POLR2A	chr9:108006415-108008180	GM19099	blood:	n/a	n/a
31	EP300	chr9:108006457-108006853	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:108006185-108007086	U87	brain:	n/a	n/a
33	MAX	chr9:108006189-108007109	HCT-116	colon:	n/a	n/a
34	FOSL2	chr9:108006467-108006806	A549	lung:	n/a	n/a
35	EP300	chr9:108006380-108006990	T-47D	breast:	n/a	n/a
36	ARID3A	chr9:108006571-108006804	K562	blood:	n/a	n/a
37	GABPA	chr9:108006303-108007005	SK-N-SH	brain:	n/a	chr9:108006752-108006761 chr9:108006777-108006786
38	USF2	chr9:108006304-108006769	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr9:108006580-108006730	HepG2	liver:	n/a	n/a
40	MYC	chr9:108006431-108007683	MCF-7	breast:	n/a	chr9:108007445-108007455
41	POLR2A	chr9:108006419-108006694	GM12891	blood:	n/a	n/a
42	MYC	chr9:108006376-108006864	H1-hESC	embryonic stem cell:	n/a	n/a
43	PAX5	chr9:108006371-108006936	GM12878	blood:	n/a	n/a
44	SIX5	chr9:108006380-108006863	H1-hESC	embryonic stem cell:	n/a	n/a
45	SMC3	chr9:108006494-108006766	K562	blood:	n/a	chr9:108006730-108006737
46	BCLAF1	chr9:108006279-108006939	GM12878	blood:	n/a	chr9:108006667-108006680
47	POU2F2	chr9:108006485-108006838	GM12878	blood:	n/a	n/a
48	ZNF263	chr9:108006340-108008420	HEK293-T-REx	kidney:	n/a	chr9:108007449-108007458
49	PML	chr9:108006416-108006845	K562	blood:	n/a	n/a
50	POLR2A	chr9:108005996-108008364	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:107948857..107951560-chr9:108005097..108008240,3	MCF-7	breast:
2	chr9:108004369..108006903-chr9:108106116..108108591,2	MCF-7	breast:
3	chr9:108005319..108006844-chr9:108176651..108179101,2	MCF-7	breast:
4	chr2:130939236..130940096-chr9:108006055..108006614,2	NB4	blood:
5	chr9:108005738..108008360-chr9:108117762..108120177,2	MCF-7	breast:
6	chr9:107687369..107691649-chr9:108006197..108009884,7	MCF-7	breast:
7	chr9:107986788..107989562-chr9:108004560..108006596,2	K562	blood:

No data

Variant related genes	Relation type
SLC44A1	TF binding region
ENSG00000226334	Chromatin interaction
ENSG00000238208	Chromatin interaction
ENSG00000165029	Chromatin interaction
ENSG00000152082	Chromatin interaction
ENSG00000070214	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046935	chr9:107414720-108028061	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv893691	chr9:107994629-108020284	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3368118	chr9:108006181-108008254	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108004200-108006600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr9:108004600-108006600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:108004600-108006600	Flanking Active TSS	Osteobl	bone
4	chr9:108004800-108006600	Flanking Active TSS	HUVEC	blood vessel
5	chr9:108004800-108009400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr9:108005000-108009200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:108005400-108006600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:108005800-108006600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:108005800-108006600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr9:108005800-108006600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:108006000-108006600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr9:108006000-108006600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr9:108006000-108006600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr9:108006000-108006600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr9:108006000-108006600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:108006000-108006600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr9:108006000-108006600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr9:108006000-108006600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:108006000-108006600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:108006000-108006600	Flanking Active TSS	Dnd41	blood
21	chr9:108006000-108006600	Flanking Active TSS	Hela-S3	cervix
22	chr9:108006000-108006600	Flanking Active TSS	NH-A	brain
23	chr9:108006000-108008000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr9:108006000-108008400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr9:108006000-108008600	Active TSS	A549	lung
26	chr9:108006200-108006600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr9:108006200-108006600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr9:108006200-108006600	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr9:108006200-108006600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr9:108006200-108006600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr9:108006200-108006600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr9:108006200-108006600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:108006200-108006600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr9:108006200-108006600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr9:108006200-108006600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr9:108006200-108006600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:108006200-108006600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:108006200-108006600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr9:108006200-108006600	Flanking Active TSS	Liver	Liver
40	chr9:108006200-108006600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr9:108006200-108006600	Active TSS	Fetal Brain Male	brain
42	chr9:108006200-108006600	Flanking Active TSS	Fetal Thymus	thymus
43	chr9:108006200-108006600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr9:108006200-108006600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr9:108006200-108006600	Flanking Active TSS	Stomach Mucosa	stomach
46	chr9:108006200-108006600	Flanking Active TSS	Thymus	Thymus
47	chr9:108006200-108006600	Flanking Active TSS	GM12878-XiMat	blood
48	chr9:108006200-108006600	Flanking Active TSS	HepG2	liver
49	chr9:108006200-108006600	Flanking Active TSS	HMEC	breast
50	chr9:108006200-108006600	Flanking Active TSS	K562	blood

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