Variant report

Variant	rs73643117
Chromosome Location	chr9:26956832-26956833
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	MXI1	chr9:26955747-26957272	IMR90	lung:	n/a	n/a
2	CCNT2	chr9:26956299-26956888	K562	blood:	n/a	chr9:26956718-26956727
3	POLR2A	chr9:26955182-26957152	NB4	blood:	n/a	n/a
4	BRCA1	chr9:26955953-26956833	H1-hESC	embryonic stem cell:	n/a	chr9:26956299-26956308
5	SIN3AK20	chr9:26955796-26956863	MCF-7	breast:	n/a	n/a
6	MAX	chr9:26955000-26957093	NB4	blood:	n/a	n/a
7	SIN3A	chr9:26955942-26956919	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr9:26955031-26957368	SK-N-SH	brain:	n/a	n/a
9	MAX	chr9:26955893-26956877	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr9:26955798-26956852	GM19193	blood:	n/a	n/a
11	CEBPB	chr9:26955881-26956851	H1-hESC	embryonic stem cell:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
12	POLR2A	chr9:26955604-26956995	HepG2	liver:	n/a	n/a
13	POLR2A	chr9:26955976-26956835	H1-hESC	embryonic stem cell:	n/a	n/a
14	IRF1	chr9:26955380-26957063	K562	blood:	n/a	n/a
15	MXI1	chr9:26955572-26957094	GM12878	blood:	n/a	n/a
16	POLR2A	chr9:26955843-26956842	GM12892	blood:	n/a	n/a
17	POLR2A	chr9:26955146-26956874	GM12892	blood:	n/a	n/a
18	POLR2A	chr9:26953902-26957243	PBDE	blood:	n/a	n/a
19	MAFF	chr9:26956126-26957217	HepG2	liver:	n/a	n/a
20	POLR2A	chr9:26956060-26957112	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr9:26955802-26956974	IMR90	lung:	n/a	n/a
22	ZBTB33	chr9:26955707-26956851	SK-N-SH	brain:	n/a	chr9:26956299-26956308 chr9:26956300-26956310
23	CHD1	chr9:26956498-26957036	H1-hESC	embryonic stem cell:	n/a	n/a
24	MTA3	chr9:26955738-26957006	GM12878	blood:	n/a	n/a
25	POLR2A	chr9:26955984-26956958	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr9:26955135-26957202	GM12878	blood:	n/a	n/a
27	MAX	chr9:26955862-26956908	HepG2	liver:	n/a	n/a
28	POLR2A	chr9:26956063-26956864	GM18951	blood:	n/a	n/a
29	EP300	chr9:26955247-26957256	K562	blood:	n/a	chr9:26956501-26956510
30	TEAD4	chr9:26956477-26956839	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr9:26955891-26957177	K562	blood:	n/a	n/a
32	UBTF	chr9:26955137-26956970	K562	blood:	n/a	n/a
33	MAX	chr9:26956081-26956869	K562	blood:	n/a	n/a
34	POLR2A	chr9:26955831-26956857	GM12892	blood:	n/a	n/a
35	TCF12	chr9:26955863-26956836	ECC-1	luminal epithelium:	n/a	n/a
36	SIN3AK20	chr9:26956432-26956907	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr9:26955303-26957779	MCF10A-Er-Src	breast:	n/a	n/a
38	REST	chr9:26955930-26956889	HL-60	blood:	n/a	n/a
39	CHD2	chr9:26955522-26957016	Hela-S3	cervix:	n/a	chr9:26956299-26956308
40	E2F4	chr9:26956191-26956972	MCF10A-Er-Src	breast:	n/a	chr9:26956501-26956510
41	MTA3	chr9:26955747-26956898	GM12878	blood:	n/a	n/a
42	POLR2A	chr9:26955891-26957083	HepG2	liver:	n/a	n/a
43	TAF1	chr9:26956028-26956837	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr9:26956093-26956896	HepG2	liver:	n/a	n/a
45	MAZ	chr9:26955202-26957209	K562	blood:	n/a	n/a
46	CHD2	chr9:26955885-26956958	H1-hESC	embryonic stem cell:	n/a	chr9:26956299-26956308
47	POLR2A	chr9:26956149-26956870	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr9:26955968-26956956	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr9:26955828-26956852	U87	brain:	n/a	n/a
50	BRCA1	chr9:26956052-26956916	GM12878	blood:	n/a	chr9:26956299-26956308

No.	Distal block	Cell Line	Cell type
1	chr9:26890425..26894629-chr9:26953159..26958312,6	K562	blood:
2	chr4:39698961..39699836-chr9:26956008..26956989,2	NB4	blood:
3	chr9:26885787..26888366-chr9:26956613..26958846,2	MCF-7	breast:
4	chr9:26956517..26958466-chr9:26969685..26972625,2	MCF-7	breast:
5	chr3:73160107..73160624-chr9:26956008..26956843,2	NB4	blood:
6	chr9:26889862..26894629-chr9:26953159..26958871,9	K562	blood:
7	chr9:26891902..26893962-chr9:26955453..26958235,3	MCF-7	breast:
8	chr9:26943098..26949574-chr9:26949927..26957421,13	K562	blood:

Variant related genes	Relation type
ENSG00000234676	TF binding region
ENSG00000096872	Chromatin interaction
ENSG00000078140	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000137055	Chromatin interaction
ENSG00000120159	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10283643	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1048949	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967595	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967624	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967634	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967638	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967639	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967640	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967644	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11999015	0.94[ASN][1000 genomes]
rs12001845	0.94[ASN][1000 genomes]
rs12002068	0.94[ASN][1000 genomes]
rs12003612	0.94[ASN][1000 genomes]
rs12338678	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12338827	0.94[ASN][1000 genomes]
rs12339063	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345094	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12349359	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16910832	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16910834	0.82[ASN][1000 genomes]
rs17694121	0.94[ASN][1000 genomes]
rs17694140	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694300	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694306	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694549	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17755887	0.94[ASN][1000 genomes]
rs17755911	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17756221	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28525632	0.82[EUR][1000 genomes]
rs41271173	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41272237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41272239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55902149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59478807	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59757728	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61331313	0.94[ASN][1000 genomes]
rs7037860	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433963	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73643119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643120	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73643126	0.89[AFR][1000 genomes]
rs73643128	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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 target site	19 gene(s)	inside rSNPs	diseases
3	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26954800-26958200	Active TSS	K562	blood
2	chr9:26955200-26957000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:26955200-26957000	Active TSS	Colonic Mucosa	Colon
4	chr9:26955200-26957000	Active TSS	Gastric	stomach
5	chr9:26955200-26957200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:26955200-26957200	Active TSS	Rectal Smooth Muscle	rectum
7	chr9:26955200-26957400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:26955200-26957400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:26955200-26957600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:26955200-26957800	Active TSS	Fetal Brain Male	brain
11	chr9:26955200-26957800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr9:26955400-26957000	Active TSS	Fetal Lung	lung
13	chr9:26955400-26957200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr9:26955400-26957200	Active TSS	Fetal Stomach	stomach
15	chr9:26955400-26957200	Active TSS	Right Atrium	heart
16	chr9:26955400-26957200	Active TSS	Right Ventricle	heart
17	chr9:26955400-26957400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:26955400-26957400	Active TSS	Stomach Smooth Muscle	stomach
19	chr9:26955400-26957400	Active TSS	A549	lung
20	chr9:26955600-26957000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:26955600-26957000	Active TSS	Brain Cingulate Gyrus	brain
22	chr9:26955600-26957000	Active TSS	Fetal Brain Female	brain
23	chr9:26955600-26957000	Active TSS	Fetal Intestine Large	intestine
24	chr9:26955600-26957000	Active TSS	Fetal Muscle Leg	muscle
25	chr9:26955600-26957000	Active TSS	Placenta	Placenta
26	chr9:26955600-26957000	Active TSS	Pancreas	Pancrea
27	chr9:26955600-26957200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:26955600-26957200	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr9:26955600-26957200	Active TSS	Brain Angular Gyrus	brain
30	chr9:26955600-26957200	Active TSS	Brain Germinal Matrix	brain
31	chr9:26955600-26957200	Active TSS	Psoas Muscle	Psoas
32	chr9:26955600-26957200	Active TSS	HSMMtube	muscle
33	chr9:26955600-26957400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr9:26955600-26957400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:26955600-26957400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:26955600-26957400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:26955600-26957400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:26955600-26957400	Active TSS	NH-A	brain
39	chr9:26955600-26957600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr9:26955600-26957600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:26955600-26957600	Active TSS	NHDF-Ad	bronchial
42	chr9:26955800-26957000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr9:26955800-26957000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:26955800-26957000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr9:26955800-26957000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:26955800-26957000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:26955800-26957000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr9:26955800-26957000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:26955800-26957000	Active TSS	Brain Substantia Nigra	brain
50	chr9:26955800-26957000	Active TSS	Esophagus	oesophagus

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