Variant report

Variant	rs7798117
Chromosome Location	chr7:39992766-39992767
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	CEBPB	chr7:39992038-39992912	K562	blood:	n/a	chr7:39992576-39992587 chr7:39992576-39992589
2	POLR2A	chr7:39990966-39993370	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr7:39991082-39993478	Hela-S3	cervix:	n/a	chr7:39992576-39992587 chr7:39992576-39992589 chr7:39992971-39992982
4	CHD1	chr7:39988142-39993006	IMR90	lung:	n/a	chr7:39989417-39989427
5	TBP	chr7:39991303-39992855	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:39992516-39992860	A549	lung:	n/a	chr7:39992576-39992587 chr7:39992576-39992589
7	CEBPB	chr7:39992451-39992772	HepG2	liver:	n/a	chr7:39992576-39992587 chr7:39992576-39992589
8	RCOR1	chr7:39992673-39992779	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr7:39992715-39993038	K562	blood:	n/a	n/a
10	EP300	chr7:39991927-39992998	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:39987858-39993456	GM12878	blood:	n/a	n/a
12	CEBPB	chr7:39992038-39992912	IMR90	lung:	n/a	chr7:39992576-39992587 chr7:39992576-39992589
13	MXI1	chr7:39987517-39993787	SK-N-SH	brain:	n/a	n/a
14	MAFK	chr7:39992601-39992876	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39992254..39999333-chr7:39999543..40002599,8	K562	blood:
2	chr7:39992705..39994767-chr7:40040920..40043283,2	K562	blood:
3	chr7:39992179..39995720-chr7:40011134..40014847,3	K562	blood:
4	chr7:39991743..39994324-chr7:40009939..40012634,2	K562	blood:

Variant related genes	Relation type
ENSG00000259826	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17496526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17537789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60166394	0.81[AFR][1000 genomes]
rs6972196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7788679	0.87[AFR][1000 genomes]
rs7810046	0.93[AFR][1000 genomes];1.00[AMR][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	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39987800-39992800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:39987800-39993200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:39987800-39993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:39988000-39992800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:39988000-39993000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:39988000-39993200	Active TSS	HSMM	muscle
7	chr7:39988000-39993400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:39988000-39993400	Active TSS	Osteobl	bone
9	chr7:39988000-39993600	Active TSS	Colonic Mucosa	Colon
10	chr7:39988000-39993800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:39988000-39993800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:39988000-39994000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:39988200-39992800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:39988200-39993200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:39988200-39993200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:39988200-39993200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:39988200-39993200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr7:39988200-39993200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:39988200-39993200	Active TSS	Colon Smooth Muscle	Colon
20	chr7:39988200-39993200	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr7:39988200-39993200	Active TSS	A549	lung
22	chr7:39988200-39993200	Active TSS	K562	blood
23	chr7:39988200-39993200	Active TSS	NH-A	brain
24	chr7:39988200-39993200	Active TSS	NHDF-Ad	bronchial
25	chr7:39988200-39993400	Active TSS	Aorta	Aorta
26	chr7:39988200-39993400	Active TSS	Psoas Muscle	Psoas
27	chr7:39988200-39993400	Active TSS	Right Ventricle	heart
28	chr7:39988200-39993600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:39988200-39993800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
31	chr7:39988400-39992800	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr7:39988400-39992800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:39988400-39993000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:39988400-39993000	Active TSS	Fetal Stomach	stomach
35	chr7:39988400-39993000	Active TSS	Fetal Thymus	thymus
36	chr7:39988400-39993200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr7:39988400-39993200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:39988400-39993200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr7:39988400-39993200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:39988400-39993200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:39988400-39993200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:39988400-39993200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:39988400-39993200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr7:39988400-39993200	Active TSS	Duodenum Mucosa	Duodenum
45	chr7:39988400-39993200	Active TSS	Fetal Intestine Large	intestine
46	chr7:39988400-39993200	Active TSS	Fetal Intestine Small	intestine
47	chr7:39988400-39993200	Active TSS	Fetal Kidney	kidney
48	chr7:39988400-39993200	Active TSS	Fetal Muscle Leg	muscle
49	chr7:39988400-39993200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr7:39988400-39993200	Active TSS	HMEC	breast

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