Variant report

Variant	rs2718109
Chromosome Location	chr7:128841479-128841480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr7:128841050-128841482	HepG2	liver:	n/a	n/a
2	EP300	chr7:128841048-128841498	HepG2	liver:	n/a	n/a
3	HDAC2	chr7:128841072-128841526	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:128841046-128841484	HepG2	liver:	n/a	chr7:128841260-128841271
5	MYBL2	chr7:128840976-128841614	HepG2	liver:	n/a	n/a
6	NFIC	chr7:128841058-128841489	HepG2	liver:	n/a	n/a
7	FOXA1	chr7:128841086-128841496	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:128840951-128841523	HepG2	liver:	n/a	n/a
9	FOXA2	chr7:128840861-128841675	HepG2	liver:	n/a	n/a
10	FOXA1	chr7:128841085-128841527	HepG2	liver:	n/a	n/a
11	TEAD4	chr7:128841047-128841564	HepG2	liver:	n/a	n/a
12	EP300	chr7:128841053-128841509	HepG2	liver:	n/a	n/a
13	NFIC	chr7:128841058-128841492	HepG2	liver:	n/a	n/a
14	SP1	chr7:128841044-128841526	HepG2	liver:	n/a	n/a
15	MYBL2	chr7:128841041-128841523	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:128840989-128841512	HepG2	liver:	n/a	n/a
17	FOXA2	chr7:128841060-128841490	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128834136..128836811-chr7:128840512..128842787,2	K562	blood:

No data

Variant related genes	Relation type
SMO	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10264209	1.00[EUR][1000 genomes]
rs10480492	1.00[EUR][1000 genomes]
rs2052962	1.00[EUR][1000 genomes]
rs2566881	0.80[AMR][1000 genomes]
rs2703098	1.00[EUR][1000 genomes]
rs2718108	0.90[AFR][1000 genomes]
rs28437865	1.00[EUR][1000 genomes]
rs28475451	1.00[EUR][1000 genomes]
rs7805353	1.00[EUR][1000 genomes]
rs9649526	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128829800-128845000	Weak transcription	Aorta	Aorta
2	chr7:128829800-128845600	Weak transcription	HSMMtube	muscle
3	chr7:128830000-128846200	Weak transcription	A549	lung
4	chr7:128830200-128845000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:128830200-128845000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:128830200-128845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:128830400-128845200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:128830400-128845200	Weak transcription	Right Ventricle	heart
9	chr7:128830600-128843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:128830600-128843400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:128830600-128843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:128830600-128844800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:128830600-128844800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:128830600-128845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:128830600-128845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:128830600-128845000	Weak transcription	Right Atrium	heart
17	chr7:128830600-128845200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:128830600-128845400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:128830600-128845600	Weak transcription	Left Ventricle	heart
20	chr7:128830600-128846000	Weak transcription	Esophagus	oesophagus
21	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
22	chr7:128831000-128842200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:128831200-128844800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:128831200-128845200	Weak transcription	Brain Germinal Matrix	brain
25	chr7:128831200-128845400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:128831200-128849400	Weak transcription	Fetal Thymus	thymus
27	chr7:128831400-128843000	Weak transcription	Fetal Brain Female	brain
28	chr7:128831400-128843200	Weak transcription	Ovary	ovary
29	chr7:128831400-128844600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:128831400-128844800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:128831400-128845600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:128832000-128845400	Weak transcription	Fetal Kidney	kidney
33	chr7:128832800-128844800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:128833000-128843000	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:128833000-128844800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:128833200-128842200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:128833200-128843000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:128833200-128843600	Weak transcription	Fetal Intestine Large	intestine
39	chr7:128833200-128845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:128834000-128842400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:128834200-128842000	Weak transcription	Fetal Intestine Small	intestine
42	chr7:128834600-128853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:128835200-128843400	Weak transcription	Fetal Lung	lung
44	chr7:128838200-128842000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:128838400-128842000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:128838600-128842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:128838600-128842200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:128839400-128845000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:128839600-128845000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:128839600-128853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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