Variant report

Variant	rs11792471
Chromosome Location	chr9:96928522-96928523
allele	A/C
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	USF1	chr9:96927820-96928706	K562	blood:	n/a	chr9:96928375-96928391 chr9:96928224-96928235
2	POLR2A	chr9:96927900-96929936	GM19099	blood:	n/a	n/a
3	CREB1	chr9:96927960-96929720	H1-hESC	embryonic stem cell:	n/a	chr9:96929116-96929129
4	POLR2A	chr9:96927959-96929554	ProgFib	skin:	n/a	n/a
5	POLR2A	chr9:96927828-96929895	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:96927963-96929054	HCT-116	colon:	n/a	n/a
7	TAF1	chr9:96928005-96929011	HepG2	liver:	n/a	n/a
8	TAF1	chr9:96927892-96929724	A549	lung:	n/a	n/a
9	MAX	chr9:96926954-96929565	NB4	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
10	SP1	chr9:96927932-96928691	HepG2	liver:	n/a	chr9:96928197-96928206 chr9:96928195-96928207 chr9:96928196-96928205 chr9:96928196-96928205 chr9:96928195-96928207
11	PBX3	chr9:96927837-96929611	SK-N-SH	brain:	n/a	n/a
12	ELF1	chr9:96927765-96929614	MCF-7	breast:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
13	CTCF	chr9:96928440-96928590	HUVEC	blood vessel:	n/a	n/a
14	RFX5	chr9:96928006-96929861	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:96927977-96929591	HCT-116	colon:	n/a	n/a
16	ARID3A	chr9:96928165-96928645	K562	blood:	n/a	chr9:96928579-96928591
17	POLR2A	chr9:96928362-96929636	HepG2	liver:	n/a	n/a
18	ELF1	chr9:96927762-96928530	MCF-7	breast:	n/a	chr9:96928494-96928506
19	POLR2A	chr9:96927948-96929737	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr9:96928480-96928630	HepG2	liver:	n/a	n/a
21	SETDB1	chr9:96927991-96929333	K562	blood:	n/a	n/a
22	POLR2A	chr9:96927899-96929674	NB4	blood:	n/a	n/a
23	SP2	chr9:96928120-96928611	K562	blood:	n/a	chr9:96928340-96928355 chr9:96928367-96928382
24	ELK1	chr9:96928026-96929611	Hela-S3	cervix:	n/a	n/a
25	REST	chr9:96928446-96928692	SK-N-SH	brain:	n/a	chr9:96928588-96928601 chr9:96928591-96928604
26	RCOR1	chr9:96927755-96929603	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr9:96927852-96929673	GM12892	blood:	n/a	n/a
28	JUND	chr9:96928461-96928660	H1-hESC	embryonic stem cell:	n/a	n/a
29	EGR1	chr9:96928414-96928681	GM12878	blood:	n/a	n/a
30	CTCF	chr9:96928440-96928590	GM12875	blood:	n/a	n/a
31	POLR2A	chr9:96927953-96929619	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr9:96928420-96928570	WERI-Rb-1	eye:	n/a	n/a
33	POLR2A	chr9:96927952-96930321	MCF10A-Er-Src	breast:	n/a	n/a
34	TCF12	chr9:96928253-96929496	GM12878	blood:	n/a	n/a
35	ELF1	chr9:96927821-96929612	GM12878	blood:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
36	POLR2A	chr9:96927871-96929884	U87	brain:	n/a	n/a
37	CTCF	chr9:96928318-96928711	IMR90	lung:	n/a	n/a
38	CTCF	chr9:96928440-96928590	SK-N-SH_RA	brain:	n/a	n/a
39	ZNF143	chr9:96927895-96929524	H1-hESC	embryonic stem cell:	n/a	chr9:96929269-96929287 chr9:96929064-96929074 chr9:96928784-96928802 chr9:96928490-96928500 chr9:96928193-96928211 chr9:96928926-96928944
40	ELF1	chr9:96927949-96929509	K562	blood:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
41	YY1	chr9:96928460-96928895	K562	blood:	n/a	chr9:96928492-96928506 chr9:96928699-96928721 chr9:96928882-96928893 chr9:96928699-96928709
42	MYC	chr9:96927481-96929683	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
43	POLR2A	chr9:96927910-96929888	Hela-S3	cervix:	n/a	n/a
44	HEY1	chr9:96927842-96929696	HepG2	liver:	n/a	chr9:96928898-96928913 chr9:96929119-96929128 chr9:96928488-96928503 chr9:96928516-96928531 chr9:96929117-96929126
45	POLR2A	chr9:96927195-96930723	GM12891	blood:	n/a	n/a
46	MYC	chr9:96928389-96929465	K562	blood:	n/a	chr9:96928893-96928902 chr9:96928955-96928965
47	POLR2A	chr9:96927929-96929603	Gliobla	brain:	n/a	n/a
48	MYC	chr9:96927972-96929846	MCF10A-Er-Src	breast:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
49	POLR2A	chr9:96928307-96929645	GM12891	blood:	n/a	n/a
50	FOS	chr9:96928114-96928538	MCF10A-Er-Src	breast:	n/a	chr9:96928343-96928352 chr9:96928198-96928207 chr9:96928193-96928202

No.	Distal block	Cell Line	Cell type
1	chr9:96927010..96929542-chr9:97400485..97402088,2	MCF-7	breast:
2	chr9:96337657..96339290-chr9:96927321..96930180,2	K562	blood:
3	chr9:96790341..96794271-chr9:96926817..96931236,5	K562	blood:
4	chr9:34328775..34329333-chr9:96928109..96928991,2	Hela-S3	cervix:
5	chr3:184529756..184530532-chr9:96928301..96928834,2	Hela-S3	cervix:
6	chr6:27860274..27861052-chr9:96928480..96929585,3	Hela-S3	cervix:
7	chr1:152008579..152009679-chr9:96928359..96929023,3	Hela-S3	cervix:
8	chr9:96791956..96794354-chr9:96926207..96931491,6	MCF-7	breast:
9	chr17:62207103..62207853-chr9:96928435..96929056,2	Hela-S3	cervix:
10	chr15:91497959..91498724-chr9:96927748..96928648,2	Hela-S3	cervix:
11	chr11:35159898..35160664-chr9:96928460..96928999,2	Hela-S3	cervix:
12	chr9:96790823..96795467-chr9:96925835..96932235,7	K562	blood:
13	chr9:96845151..96850974-chr9:96927067..96931575,8	K562	blood:
14	chr14:20937169..20937695-chr9:96928145..96928840,2	Hela-S3	cervix:
15	chr19:12901906..12902802-chr9:96928364..96929361,2	Hela-S3	cervix:
16	chr9:96861428..96863422-chr9:96927160..96928732,2	MCF-7	breast:
17	chr9:96927406..96930148-chr9:97007636..97010398,2	MCF-7	breast:
18	chr9:96792323..96794528-chr9:96927672..96930924,4	MCF-7	breast:
19	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:

Variant related genes	Relation type
ENSG00000269946	TF binding region
ENSG00000197724	Chromatin interaction
ENSG00000156931	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000178607	Chromatin interaction
ENSG00000186638	Chromatin interaction
ENSG00000165140	Chromatin interaction
ENSG00000158079	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000252723	Chromatin interaction
ENSG00000026508	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10125839	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10739972	0.90[AMR][1000 genomes]
rs1421134	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1833404	0.97[ASN][1000 genomes]
rs2026618	0.97[ASN][1000 genomes]
rs2675279	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744322	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7025880	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7045890	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7046438	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7865735	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9299415	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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 miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3435412	chr9:96924949-96935312	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv3323629	chr9:96927556-96930104	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr9:96927400-96929200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:96927800-96928800	Active TSS	Brain Germinal Matrix	brain
3	chr9:96927800-96929600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:96927800-96929600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr9:96927800-96929800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:96927800-96929800	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr9:96927800-96929800	Active TSS	Brain Anterior Caudate	brain
8	chr9:96927800-96929800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:96927800-96929800	Active TSS	Lung	lung
10	chr9:96927800-96930000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:96927800-96930000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:96927800-96930000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:96927800-96930000	Active TSS	Osteobl	bone
14	chr9:96927800-96930200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr9:96927800-96930400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr9:96927800-96930400	Active TSS	Fetal Brain Female	brain
17	chr9:96927800-96930400	Active TSS	Stomach Smooth Muscle	stomach
18	chr9:96927800-96930800	Active TSS	Colonic Mucosa	Colon
19	chr9:96927800-96930800	Active TSS	NHLF	lung
20	chr9:96927800-96931000	Active TSS	Fetal Kidney	kidney
21	chr9:96927800-96931200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:96927800-96931400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr9:96927800-96931600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr9:96927800-96931600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr9:96927800-96931600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr9:96927800-96932200	Active TSS	HSMMtube	muscle
27	chr9:96927800-96932600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr9:96927800-96932600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:96927800-96932800	Active TSS	Aorta	Aorta
30	chr9:96927800-96933200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:96928000-96928600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:96928000-96928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:96928000-96929600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:96928000-96929600	Active TSS	Gastric	stomach
35	chr9:96928000-96929800	Active TSS	Brain Hippocampus Middle	brain
36	chr9:96928000-96929800	Active TSS	Esophagus	oesophagus
37	chr9:96928000-96929800	Active TSS	Pancreas	Pancrea
38	chr9:96928000-96930200	Active TSS	Brain Cingulate Gyrus	brain
39	chr9:96928000-96930200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr9:96928000-96930400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:96928000-96930400	Active TSS	Colon Smooth Muscle	Colon
42	chr9:96928000-96930400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr9:96928000-96930400	Active TSS	Small Intestine	intestine
44	chr9:96928000-96930600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr9:96928000-96930800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:96928000-96930800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:96928000-96930800	Active TSS	Duodenum Mucosa	Duodenum
48	chr9:96928000-96931000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:96928000-96931000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr9:96928000-96931000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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