Variant report

Variant	rs7731222
Chromosome Location	chr5:98104055-98104056
allele	C/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	CTCF	chr5:98103824-98104111	A549	lung:	n/a	n/a
2	CTCF	chr5:98103774-98105621	GM12878	blood:	n/a	chr5:98104934-98104947 chr5:98104931-98104949 chr5:98104933-98104954
3	RAD21	chr5:98103678-98104345	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:98103900-98104083	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:98103861-98104157	HepG2	liver:	n/a	n/a
6	CTCF	chr5:98103850-98104137	Medullo	brain:	n/a	n/a
7	TCF12	chr5:98103702-98106617	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr5:98103920-98104070	GM12868	blood:	n/a	n/a
9	CTCF	chr5:98103884-98104121	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr5:98103844-98104194	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMC3	chr5:98103866-98104140	HepG2	liver:	n/a	n/a
12	MAX	chr5:98103914-98104500	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:98103850-98104076	HepG2	liver:	n/a	n/a
14	CTCF	chr5:98103940-98104090	AG04450	lung:	n/a	n/a
15	CTCF	chr5:98103920-98104070	WI-38	lung:	n/a	n/a
16	CTCF	chr5:98103980-98104130	NHDF-neo	bronchial:	n/a	n/a
17	CEBPB	chr5:98103920-98105849	IMR90	lung:	n/a	n/a
18	CTCF	chr5:98103940-98104090	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr5:98103866-98104132	GM13976	blood:	n/a	n/a
20	SIN3A	chr5:98103375-98106650	H1-hESC	embryonic stem cell:	n/a	chr5:98103604-98103613
21	CEBPB	chr5:98103833-98104236	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr5:98103865-98104155	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr5:98103774-98104207	A549	lung:	n/a	n/a
24	CTCF	chr5:98103880-98104149	GM10248	blood:	n/a	n/a
25	CTCF	chr5:98103719-98104243	HCT-116	colon:	n/a	n/a
26	CTCF	chr5:98103940-98104090	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr5:98103920-98104070	GM12875	blood:	n/a	n/a
28	TCF7L2	chr5:98103928-98104386	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr5:98103960-98104110	GM12864	blood:	n/a	n/a
30	POLR2A	chr5:98103942-98104198	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr5:98103898-98104186	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr5:98103920-98104070	HPF	lung:	n/a	n/a
33	CTCF	chr5:98104020-98104170	WI-38	lung:	n/a	n/a
34	RCOR1	chr5:98103712-98107759	IMR90	lung:	n/a	n/a
35	SP1	chr5:98103675-98104177	H1-hESC	embryonic stem cell:	n/a	chr5:98103781-98103795
36	RAD21	chr5:98103788-98104185	GM12878	blood:	n/a	n/a
37	MYC	chr5:98104027-98104207	MCF10A-Er-Src	breast:	n/a	n/a
38	HDAC2	chr5:98103734-98104184	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr5:98103960-98104110	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:98103862-98104152	ProgFib	skin:	n/a	n/a
41	CTCF	chr5:98103854-98104131	Lung_OC	lung:	n/a	n/a
42	CTCF	chr5:98103879-98104120	Hela-S3	cervix:	n/a	n/a
43	HDAC2	chr5:98103860-98104122	H1-hESC	embryonic stem cell:	n/a	n/a
44	SMC3	chr5:98103216-98107662	SK-N-SH	brain:	n/a	chr5:98104937-98104947 chr5:98104933-98104947
45	CTCF	chr5:98103792-98104144	K562	blood:	n/a	n/a
46	MAZ	chr5:98103628-98107877	IMR90	lung:	n/a	chr5:98104887-98104896 chr5:98104605-98104615
47	CTCF	chr5:98103861-98104388	GM12892	blood:	n/a	n/a
48	CTCF	chr5:98103889-98104120	MCF-7	breast:	n/a	n/a
49	RAD21	chr5:98103810-98104162	GM12878	blood:	n/a	n/a
50	CTCF	chr5:98103920-98104070	AG09319	gingival:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98103871..98107404-chr5:98108128..98112327,8	MCF-7	breast:
2	chr5:98102131..98106489-chr5:98107320..98111501,11	MCF-7	breast:

Variant related genes	Relation type
RGMB	TF binding region
ENSG00000174136	Chromatin interaction
ENSG00000246763	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10515281	1.00[AMR][1000 genomes]
rs17166323	1.00[AMR][1000 genomes]
rs17166332	1.00[AMR][1000 genomes]
rs17166337	1.00[AMR][1000 genomes]
rs17166350	1.00[AMR][1000 genomes]
rs17166361	1.00[AMR][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	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98100600-98104200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:98103200-98104200	Active TSS	Stomach Smooth Muscle	stomach
3	chr5:98103200-98104400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:98103200-98104600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr5:98103200-98105000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:98103200-98107200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:98103400-98104200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:98103400-98104200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:98103400-98104400	Flanking Active TSS	Osteobl	bone
10	chr5:98103400-98104600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:98103400-98104600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:98103400-98104800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr5:98103400-98107400	Active TSS	Aorta	Aorta
14	chr5:98103400-98107600	Active TSS	Brain Anterior Caudate	brain
15	chr5:98103600-98104200	Active TSS	Right Ventricle	heart
16	chr5:98103600-98105200	Active TSS	Brain Germinal Matrix	brain
17	chr5:98103800-98104200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr5:98103800-98104200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:98103800-98104200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:98103800-98104200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr5:98103800-98104200	Active TSS	Duodenum Mucosa	Duodenum
22	chr5:98103800-98104200	Bivalent Enhancer	Fetal Thymus	thymus
23	chr5:98103800-98104200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr5:98103800-98104400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:98103800-98104400	Active TSS	Colonic Mucosa	Colon
26	chr5:98103800-98104600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:98103800-98104600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:98103800-98104600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:98103800-98104600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:98103800-98104800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr5:98103800-98105000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr5:98103800-98105600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr5:98103800-98106200	Active TSS	Fetal Brain Female	brain
34	chr5:98103800-98107400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:98103800-98107400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:98103800-98107400	Flanking Active TSS	Liver	Liver
37	chr5:98103800-98107400	Active TSS	Brain Angular Gyrus	brain
38	chr5:98103800-98107400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:98103800-98107400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:98103800-98107600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr5:98103800-98107800	Active TSS	Brain Cingulate Gyrus	brain
42	chr5:98103800-98108000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:98103800-98108000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr5:98103800-98108200	Active TSS	Fetal Kidney	kidney
45	chr5:98103800-98112600	Active TSS	Rectal Smooth Muscle	rectum
46	chr5:98104000-98104200	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr5:98104000-98104200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
48	chr5:98104000-98104200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
49	chr5:98104000-98104200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:98104000-98104200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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