Variant report

Variant	rs58681636
Chromosome Location	chr9:104208317-104208318
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	HDAC2	chr9:104207479-104208346	HepG2	liver:	n/a	chr9:104207595-104207609
2	FOXA2	chr9:104207334-104208346	HepG2	liver:	n/a	chr9:104207485-104207497
3	MBD4	chr9:104207453-104208589	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:104207479-104208395	HepG2	liver:	n/a	chr9:104207840-104207851
5	CEBPB	chr9:104207649-104208371	HepG2	liver:	n/a	chr9:104207840-104207851
6	NFIC	chr9:104207471-104208545	HepG2	liver:	n/a	chr9:104207967-104207995
7	POLR2A	chr9:104207462-104208379	HepG2	liver:	n/a	n/a
8	NFIC	chr9:104207390-104208345	HepG2	liver:	n/a	chr9:104207967-104207995
9	TEAD4	chr9:104206871-104208516	HepG2	liver:	n/a	n/a
10	EP300	chr9:104207181-104208461	HepG2	liver:	n/a	chr9:104207841-104207855 chr9:104207854-104207868
11	EP300	chr9:104207357-104208436	HepG2	liver:	n/a	chr9:104207841-104207855 chr9:104207854-104207868
12	HNF4G	chr9:104207473-104208317	HepG2	liver:	n/a	n/a
13	CEBPB	chr9:104207532-104208339	Hela-S3	cervix:	n/a	chr9:104207840-104207851
14	NR2F2	chr9:104207369-104208491	HepG2	liver:	n/a	n/a
15	SMC3	chr9:104207421-104208395	HepG2	liver:	n/a	n/a
16	JUN	chr9:104207372-104208402	HepG2	liver:	n/a	chr9:104207841-104207854
17	SP1	chr9:104207361-104208457	HepG2	liver:	n/a	chr9:104208125-104208139 chr9:104208130-104208137
18	FOXA1	chr9:104207245-104208344	HepG2	liver:	n/a	chr9:104207485-104207497
19	JUND	chr9:104207342-104208414	HepG2	liver:	n/a	n/a
20	EP300	chr9:104207620-104208408	HepG2	liver:	n/a	chr9:104207841-104207855 chr9:104207854-104207868
21	MYBL2	chr9:104207351-104208739	HepG2	liver:	n/a	n/a
22	FOXA1	chr9:104207225-104208448	HepG2	liver:	n/a	chr9:104207485-104207497
23	CEBPB	chr9:104207533-104208400	HepG2	liver:	n/a	chr9:104207840-104207851
24	MYBL2	chr9:104207260-104208443	HepG2	liver:	n/a	n/a
25	CEBPB	chr9:104207655-104208363	IMR90	lung:	n/a	chr9:104207840-104207851
26	MBD4	chr9:104207422-104208356	HepG2	liver:	n/a	n/a
27	HDAC2	chr9:104207441-104208456	HepG2	liver:	n/a	chr9:104207473-104207487 chr9:104207595-104207609 chr9:104207469-104207483 chr9:104207465-104207479

No.	Distal block	Cell Line	Cell type
1	chr9:104208004..104209865-chr9:104292464..104295242,2	K562	blood:
2	chr9:104159548..104162633-chr9:104207516..104209377,3	MCF-7	breast:
3	chr9:104190295..104194061-chr9:104205470..104208320,4	K562	blood:

Variant related genes	Relation type
ENSG00000270982	TF binding region
ENSG00000136870	Chromatin interaction
ENSG00000136897	Chromatin interaction
ENSG00000136872	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13288923	0.87[AFR][1000 genomes]
rs13301570	0.87[AFR][1000 genomes]
rs2150736	0.83[EUR][1000 genomes]
rs55785343	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55934101	0.83[EUR][1000 genomes]
rs55956510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57786986	0.93[EUR][1000 genomes]
rs59291632	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59756949	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60349154	0.93[EUR][1000 genomes]
rs66532188	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66662619	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66750836	0.93[EUR][1000 genomes]
rs67190360	1.00[EUR][1000 genomes]
rs67526534	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035564	0.86[EUR][1000 genomes]
rs7043814	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743360	0.93[EUR][1000 genomes]
rs72743361	0.83[EUR][1000 genomes]
rs72743362	0.83[EUR][1000 genomes]
rs73501217	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104197000-104211400	Weak transcription	Right Atrium	heart
2	chr9:104197400-104209600	Enhancers	Fetal Intestine Large	intestine
3	chr9:104204800-104211400	Weak transcription	Left Ventricle	heart
4	chr9:104205000-104209600	Enhancers	Fetal Intestine Small	intestine
5	chr9:104205600-104211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:104205800-104211000	Weak transcription	Fetal Heart	heart
7	chr9:104206000-104209000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:104206000-104210800	Weak transcription	Psoas Muscle	Psoas
9	chr9:104206400-104211400	Weak transcription	Brain Germinal Matrix	brain
10	chr9:104206600-104210800	Weak transcription	Fetal Brain Female	brain
11	chr9:104207000-104210800	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:104207000-104211400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:104207000-104211400	Weak transcription	Pancreas	Pancrea
14	chr9:104207200-104208600	Flanking Active TSS	HepG2	liver
15	chr9:104207600-104208400	Enhancers	Brain Substantia Nigra	brain
16	chr9:104207600-104208800	Enhancers	Stomach Mucosa	stomach
17	chr9:104208000-104208400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr9:104208000-104208400	Enhancers	K562	blood
19	chr9:104208000-104208600	Enhancers	Brain Angular Gyrus	brain
20	chr9:104208000-104211400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:104208000-104211400	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:104208200-104208400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:104208200-104208400	Enhancers	Liver	Liver
24	chr9:104208200-104208400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr9:104208200-104208600	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:104208200-104211000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:104208200-104211000	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:104208200-104211000	Weak transcription	A549	lung
29	chr9:104208200-104211400	Weak transcription	Brain Cingulate Gyrus	brain

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