Variant report

Variant	rs7710316
Chromosome Location	chr5:14666349-14666350
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	BCLAF1	chr5:14665973-14666504	GM12878	blood:	n/a	n/a
2	TBP	chr5:14666098-14666459	GM12878	blood:	n/a	n/a
3	STAT1	chr5:14666208-14666355	GM12878	blood:	n/a	n/a
4	PAX5	chr5:14666078-14666428	GM12878	blood:	n/a	n/a
5	MAX	chr5:14666094-14666453	GM12878	blood:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
6	ATF2	chr5:14666095-14666597	GM12878	blood:	n/a	n/a
7	TCF12	chr5:14666147-14666393	GM12878	blood:	n/a	n/a
8	CTCF	chr5:14666200-14666350	GM12865	blood:	n/a	n/a
9	CHD2	chr5:14666082-14666353	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:14666070-14666381	GM12892	blood:	n/a	n/a
11	E2F6	chr5:14666037-14666442	H1-hESC	embryonic stem cell:	n/a	n/a
12	RUNX3	chr5:14666004-14666402	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:14665895-14666533	GM12878	blood:	n/a	n/a
14	MTA3	chr5:14665167-14666521	GM12878	blood:	n/a	n/a
15	MAX	chr5:14666094-14666459	K562	blood:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
16	EP300	chr5:14666315-14666416	GM12878	blood:	n/a	n/a
17	CTCF	chr5:14666021-14666412	GM12878	blood:	n/a	n/a
18	MAX	chr5:14666037-14666554	MCF-7	breast:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
19	CTCF	chr5:14666280-14666430	AG09309	skin:	n/a	n/a
20	MXI1	chr5:14663874-14666710	GM12878	blood:	n/a	n/a
21	POU2F2	chr5:14666077-14666477	GM12878	blood:	n/a	n/a
22	USF1	chr5:14666136-14666366	HepG2	liver:	n/a	n/a
23	MAX	chr5:14666143-14666488	H1-hESC	embryonic stem cell:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
24	MAX	chr5:14666100-14666481	HepG2	liver:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
25	E2F6	chr5:14665987-14666580	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:14666039-14666363	GM12892	blood:	n/a	n/a
27	PAX5	chr5:14666136-14666432	GM12878	blood:	n/a	n/a
28	TCF3	chr5:14666147-14666363	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:14665983-14666463	GM12878	blood:	n/a	n/a
30	USF1	chr5:14666050-14666392	K562	blood:	n/a	n/a
31	CTCF	chr5:14666220-14666370	GM12873	blood:	n/a	n/a
32	POLR2A	chr5:14666087-14666374	GM12878	blood:	n/a	n/a
33	PAX5	chr5:14666153-14666406	GM12891	blood:	n/a	n/a
34	ZNF143	chr5:14666040-14666422	GM12878	blood:	n/a	n/a
35	FOS	chr5:14666148-14666395	MCF10A-Er-Src	breast:	n/a	n/a
36	USF1	chr5:14666137-14666366	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr5:14666200-14666350	HEEpiC	esophagus:	n/a	n/a
38	SIN3A	chr5:14666137-14666431	GM12878	blood:	n/a	n/a
39	E2F6	chr5:14666113-14666467	K562	blood:	n/a	n/a
40	MAX	chr5:14666119-14666421	A549	lung:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
41	MYC	chr5:14666110-14666636	MCF10A-Er-Src	breast:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
42	HCFC1	chr5:14663672-14668468	Hela-S3	cervix:	n/a	n/a
43	GTF2F1	chr5:14666286-14666402	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr5:14666112-14666496	GM12878	blood:	n/a	n/a
45	MYC	chr5:14666019-14666578	MCF10A-Er-Src	breast:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
46	EBF1	chr5:14666099-14666422	GM12878	blood:	n/a	n/a
47	BHLHE40	chr5:14666009-14666468	HepG2	liver:	n/a	n/a
48	SETDB1	chr5:14665321-14666486	U2OS	brain:	n/a	n/a
49	MAX	chr5:14666058-14666409	K562	blood:	n/a	chr5:14666260-14666271 chr5:14666260-14666271
50	E2F6	chr5:14666115-14666393	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14143682..14146659-chr5:14664431..14666395,2	MCF-7	breast:
2	chr5:14611853..14613930-chr5:14664860..14666930,2	K562	blood:
3	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
4	chr5:14662841..14665118-chr5:14665182..14666841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261360	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11952550	0.83[AMR][1000 genomes]
rs11953822	0.83[AMR][1000 genomes]
rs11956097	0.83[AMR][1000 genomes]
rs16903651	0.83[AMR][1000 genomes]
rs55714227	0.83[AMR][1000 genomes]
rs55957515	0.83[AMR][1000 genomes]
rs56044433	0.83[AMR][1000 genomes]
rs56155042	0.83[AMR][1000 genomes]
rs56297478	0.83[AMR][1000 genomes]
rs56350972	0.83[AMR][1000 genomes]
rs73749521	0.83[AMR][1000 genomes]
rs73749524	0.83[AMR][1000 genomes]
rs73749525	0.83[AMR][1000 genomes]
rs73749526	0.83[AMR][1000 genomes]
rs73749585	0.83[AMR][1000 genomes]
rs73749586	0.83[AMR][1000 genomes]
rs73749593	0.83[AMR][1000 genomes]
rs73752126	0.83[AMR][1000 genomes]
rs73752131	0.83[AMR][1000 genomes]
rs73752132	0.83[AMR][1000 genomes]
rs73752133	0.83[AMR][1000 genomes]
rs73752135	0.83[AMR][1000 genomes]
rs73752138	0.83[AMR][1000 genomes]
rs73752139	0.83[AMR][1000 genomes]
rs73752140	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv1803617	chr5:14664479-14667143	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv1838262	chr5:14664479-14667143	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14663800-14666600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:14664000-14666600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:14665200-14666400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr5:14665200-14666400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:14665200-14666600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr5:14665200-14666800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr5:14665400-14666400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:14665400-14666400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:14665400-14666400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:14665400-14666400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr5:14665400-14666400	Flanking Active TSS	Fetal Thymus	thymus
12	chr5:14665400-14666400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:14665400-14666600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:14665400-14666800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr5:14665400-14666800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr5:14665400-14666800	Flanking Active TSS	Thymus	Thymus
17	chr5:14665400-14666800	Flanking Active TSS	HUVEC	blood vessel
18	chr5:14665400-14667000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:14665400-14667200	Flanking Active TSS	Dnd41	blood
20	chr5:14665600-14666400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr5:14665600-14666400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr5:14665600-14666400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr5:14665600-14666400	Flanking Active TSS	Fetal Stomach	stomach
24	chr5:14665600-14666400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:14665600-14666400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr5:14665600-14666400	Flanking Active TSS	NH-A	brain
27	chr5:14665600-14666600	Flanking Active TSS	Hela-S3	cervix
28	chr5:14665600-14666600	Flanking Active TSS	K562	blood
29	chr5:14665600-14666800	Flanking Active TSS	Liver	Liver
30	chr5:14665600-14667000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:14665600-14667000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:14665600-14667000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr5:14665600-14667000	Flanking Active TSS	Osteobl	bone
34	chr5:14665600-14667200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:14665800-14666400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:14665800-14666400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:14665800-14666400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr5:14665800-14666400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:14665800-14666400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr5:14665800-14666400	Enhancers	Esophagus	oesophagus
42	chr5:14665800-14666400	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr5:14665800-14666400	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr5:14665800-14666400	Enhancers	Placenta	Placenta
45	chr5:14665800-14666400	Enhancers	Gastric	stomach
46	chr5:14665800-14666400	Enhancers	Spleen	Spleen
47	chr5:14665800-14666400	Flanking Active TSS	HSMM	muscle
48	chr5:14665800-14666800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:14665800-14666800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr5:14665800-14666800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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