Variant report

Variant	rs7789194
Chromosome Location	chr7:25992510-25992511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr7:25992128-25992627	HepG2	liver:	n/a	n/a
2	TBP	chr7:25992248-25992670	HepG2	liver:	n/a	n/a
3	JUND	chr7:25992236-25992595	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:25992206-25992555	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr7:25992151-25992616	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr7:25991654-25992753	HepG2	liver:	n/a	n/a
7	REST	chr7:25992157-25992608	HepG2	liver:	n/a	chr7:25992362-25992375 chr7:25992357-25992375
8	HNF4G	chr7:25992137-25992706	HepG2	liver:	n/a	n/a
9	EP300	chr7:25992134-25992657	HepG2	liver:	n/a	n/a
10	MBD4	chr7:25992218-25992668	HepG2	liver:	n/a	n/a
11	JUN	chr7:25992407-25992788	HepG2	liver:	n/a	chr7:25992618-25992631
12	POLR2A	chr7:25987021-25992694	HepG2	liver:	n/a	n/a
13	MAFK	chr7:25992276-25992612	HepG2	liver:	n/a	n/a
14	ARID3A	chr7:25992088-25992801	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:25992081-25992837	HepG2	liver:	n/a	chr7:25992396-25992408
16	EP300	chr7:25992265-25992747	HepG2	liver:	n/a	n/a
17	ZBTB33	chr7:25992244-25992646	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr7:25992267-25992559	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:25992310-25992620	HepG2	liver:	n/a	n/a
20	MBD4	chr7:25992151-25992671	HepG2	liver:	n/a	n/a
21	CEBPD	chr7:25992173-25992587	HepG2	liver:	n/a	n/a
22	HNF4G	chr7:25992060-25992656	HepG2	liver:	n/a	n/a
23	NFIC	chr7:25992035-25992713	HepG2	liver:	n/a	n/a
24	SMC3	chr7:25992228-25992652	HepG2	liver:	n/a	n/a
25	HNF4A	chr7:25992146-25992654	HepG2	liver:	n/a	n/a
26	JUND	chr7:25992470-25992918	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAFK	chr7:25992346-25992619	HepG2	liver:	n/a	n/a
28	HEY1	chr7:25992153-25992608	HepG2	liver:	n/a	n/a
29	FOSL2	chr7:25992214-25992632	HepG2	liver:	n/a	n/a
30	JUND	chr7:25992293-25992803	HepG2	liver:	n/a	n/a
31	RFX5	chr7:25992299-25992598	HepG2	liver:	n/a	n/a
32	MAX	chr7:25992312-25992657	HepG2	liver:	n/a	chr7:25992491-25992500
33	SP1	chr7:25992070-25992800	HepG2	liver:	n/a	chr7:25992304-25992313 chr7:25992296-25992310 chr7:25992303-25992313 chr7:25992302-25992314 chr7:25992303-25992317 chr7:25992302-25992314
34	MYBL2	chr7:25992032-25992819	HepG2	liver:	n/a	n/a
35	HDAC2	chr7:25992177-25992721	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr7:25992279-25992513	HepG2	liver:	n/a	n/a
37	RAD21	chr7:25992146-25992603	HepG2	liver:	n/a	chr7:25992463-25992475
38	RXRA	chr7:25992183-25992661	HepG2	liver:	n/a	n/a
39	CHD2	chr7:25992207-25992596	HepG2	liver:	n/a	n/a
40	MAX	chr7:25992078-25992755	HepG2	liver:	n/a	chr7:25992491-25992500
41	HNF4A	chr7:25992150-25992701	HepG2	liver:	n/a	n/a
42	TEAD4	chr7:25992394-25992645	HepG2	liver:	n/a	n/a
43	TCF12	chr7:25992183-25992602	HepG2	liver:	n/a	n/a
44	MAZ	chr7:25992140-25992755	HepG2	liver:	n/a	chr7:25992491-25992500
45	HDAC2	chr7:25992038-25992787	HepG2	liver:	n/a	n/a
46	FOXA2	chr7:25992095-25992731	HepG2	liver:	n/a	chr7:25992396-25992408
47	FOXA1	chr7:25992062-25992796	HepG2	liver:	n/a	chr7:25992396-25992408
48	USF1	chr7:25992281-25992551	HepG2	liver:	n/a	n/a
49	CEBPB	chr7:25992406-25992710	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr7:25992129-25992750	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:25992501-25992551	HCPEpiC	choroid plexus:	n/a
2	chr7:25992501-25992551	PANC-1	pancreas:	n/a
3	chr7:25992501-25992551	SK-N-SH	brain:	n/a
4	chr7:25992501-25992551	GM12878	blood:	n/a
5	chr7:25992501-25992551	NHBE	bronchial:	n/a
6	chr7:25992501-25992551	PrEC	prostate:	n/a
7	chr7:25992501-25992551	H1-hESC	embryonic stem cell:	embryo
8	chr7:25992501-25992551	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:25992501-25992551	GM06990	blood:	n/a
10	chr7:25992501-25992551	HCF	heart:	n/a
11	chr7:25992501-25992551	HMEC	breast:	n/a
12	chr7:25992501-25992551	HepG2	liver:	n/a
13	chr7:25992501-25992551	A549	lung:	n/a
14	chr7:25992501-25992551	AG04449	skin:	fetal
15	chr7:25992501-25992551	CMK	blood:	n/a
16	chr7:25992501-25992551	AG09309	skin:	n/a
17	chr7:25992501-25992551	Caco-2	colon:	n/a
18	chr7:25992501-25992551	MCF10A-Er-Src	breast:	n/a
19	chr7:25992501-25992551	AoSMC	blood vessel:	n/a
20	chr7:25992501-25992551	HRCEpiC	kidney:	n/a
21	chr7:25992501-25992551	NHDF-neo	bronchial:	n/a
22	chr7:25992501-25992551	AG09319	gingival:	n/a
23	chr7:25992501-25992551	NB4	blood:	n/a
24	chr7:25992501-25992551	BE2_C	brain:	n/a
25	chr7:25992501-25992551	HL-60	blood:	n/a
26	chr7:25992501-25992551	GM12892	blood:	n/a
27	chr7:25992501-25992551	SKMC	muscle:	n/a
28	chr7:25992501-25992551	GM19239	blood:	n/a
29	chr7:25992501-25992551	HEEpiC	esophagus:	n/a
30	chr7:25992501-25992551	HCM	heart:	n/a
31	chr7:25992501-25992551	HAEpiC	amniotic membrane:	n/a
32	chr7:25992501-25992551	AG04450	lung:	fetal
33	chr7:25992501-25992551	HCT-116	colon:	n/a
34	chr7:25992501-25992551	PFSK-1	brain:	n/a
35	chr7:25992501-25992551	HIPEpiC	eye:	n/a
36	chr7:25992501-25992551	Hela-S3	cervix:	n/a
37	chr7:25992501-25992551	HRPEpiC	eye:	n/a
38	chr7:25992501-25992551	ovcar-3	ovarian:	n/a
39	chr7:25992501-25992551	NT2-D1	testis:	n/a
40	chr7:25992501-25992551	Hepatocyte	liver:	n/a
41	chr7:25992501-25992551	HUVEC	blood vessel:	n/a
42	chr7:25992501-25992551	ProgFib	skin:	n/a
43	chr7:25992501-25992551	IMR90	lung:	fetal
44	chr7:25992501-25992551	SK-N-MC	brain:	n/a
45	chr7:25992501-25992551	SAEC	small airway:	n/a
46	chr7:25992501-25992551	MCF-7	breast:	n/a
47	chr7:25992501-25992551	ECC-1	luminal epithelium:	n/a
48	chr7:25992501-25992551	Jurkat	blood:	n/a
49	chr7:25992501-25992551	K562	blood:	n/a
50	chr7:25992501-25992551	GM12891	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:25932084..25934727-chr7:25991166..25992811,2	MCF-7	breast:
2	chr7:25990509..25992566-chr7:25994471..25996898,2	K562	blood:
3	chr7:25990038..25992521-chr7:26240210..26242861,2	MCF-7	breast:
4	chr7:25990295..25993400-chr7:26020103..26023231,3	MCF-7	breast:
5	chr7:25990769..25992627-chr7:25993165..25995306,2	MCF-7	breast:
6	chr7:25990709..25992651-chr7:26072086..26075062,2	MCF-7	breast:
7	chr7:25989811..25992726-chr7:26096097..26097704,2	MCF-7	breast:
8	chr7:25990548..25994647-chr7:26001939..26005377,4	MCF-7	breast:

No data

Variant related genes	Relation type
MIR148A	TF binding region
ENSG00000270933	TF binding region
ENSG00000270933	CpG island
MIR148A	CpG island
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4574742	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4719839	0.87[ASN][1000 genomes]
rs6959252	0.85[ASN][1000 genomes]
rs6980357	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9639523	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][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	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25987200-25993200	Active TSS	Pancreas	Pancrea
2	chr7:25987800-25992800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:25989200-25992600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:25991200-25993200	Flanking Active TSS	Liver	Liver
5	chr7:25991400-25992800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:25991400-25993000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:25991400-25993200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:25991600-25992600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:25991600-25994000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:25991800-25992600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:25991800-25992600	Enhancers	Fetal Intestine Large	intestine
12	chr7:25991800-25992800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:25991800-25992800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:25991800-25992800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:25991800-25992800	Active TSS	Duodenum Mucosa	Duodenum
16	chr7:25991800-25993000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:25991800-25993000	Weak transcription	GM12878-XiMat	blood
18	chr7:25992000-25992600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:25992000-25993000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:25992000-25993000	Enhancers	Stomach Mucosa	stomach
21	chr7:25992200-25992600	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr7:25992400-25992600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:25992400-25992600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr7:25992400-25992800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr7:25992400-25992800	Enhancers	Fetal Kidney	kidney
26	chr7:25992400-25993000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:25992400-25993000	Flanking Active TSS	HepG2	liver
28	chr7:25992400-25993600	Weak transcription	HMEC	breast

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