Variant report

Variant	rs7715608
Chromosome Location	chr5:74532782-74532783
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	POLR2A	chr5:74532519-74533087	A549	lung:	n/a	n/a
2	POLR2A	chr5:74532295-74533237	MCF-7	breast:	n/a	n/a
3	ZC3H11A	chr5:74532622-74532888	K562	blood:	n/a	n/a
4	CREB1	chr5:74532473-74533087	GM12878	blood:	n/a	n/a
5	ZNF384	chr5:74532676-74533336	GM12878	blood:	n/a	n/a
6	CTCF	chr5:74532680-74532830	MCF-7	breast:	n/a	chr5:74532789-74532802
7	NRF1	chr5:74532650-74533001	H1-hESC	embryonic stem cell:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841 chr5:74532827-74532838
8	ELF1	chr5:74532565-74533109	HepG2	liver:	n/a	n/a
9	NRF1	chr5:74532015-74533231	SK-N-SH	brain:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841 chr5:74532827-74532838
10	CTCF	chr5:74532660-74532810	AoAF	blood vessel:	n/a	chr5:74532789-74532802
11	POLR2A	chr5:74532571-74533015	Hela-S3	cervix:	n/a	n/a
12	WRNIP1	chr5:74532511-74533160	GM12878	blood:	n/a	n/a
13	SP1	chr5:74532599-74533040	GM12878	blood:	n/a	chr5:74532786-74532796 chr5:74532785-74532796 chr5:74532787-74532796 chr5:74532786-74532795 chr5:74532785-74532797 chr5:74532786-74532800 chr5:74532785-74532797 chr5:74532786-74532795 chr5:74532847-74532857 chr5:74532786-74532796
14	CTCF	chr5:74532680-74532830	NHLF	lung:	n/a	chr5:74532789-74532802
15	POLR2A	chr5:74532521-74533067	HepG2	liver:	n/a	n/a
16	REST	chr5:74532278-74533455	H1-neurons	neurons:	n/a	chr5:74532786-74532799
17	REST	chr5:74532452-74533123	A549	lung:	n/a	chr5:74532786-74532799
18	TAF1	chr5:74532501-74533327	H1-neurons	neurons:	n/a	n/a
19	MAX	chr5:74532227-74533118	MCF-7	breast:	n/a	chr5:74532299-74532309
20	CTCF	chr5:74532640-74532790	GM12865	blood:	n/a	n/a
21	CTCF	chr5:74532640-74532790	SK-N-SH_RA	brain:	n/a	n/a
22	CREB1	chr5:74532533-74533039	K562	blood:	n/a	n/a
23	POLR2A	chr5:74532211-74533146	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr5:74532660-74532810	GM12870	blood:	n/a	chr5:74532789-74532802
25	IRF4	chr5:74532564-74533090	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:74532259-74532974	MCF10A-Er-Src	breast:	n/a	n/a
27	GATA3	chr5:74532541-74532808	T-47D	breast:	n/a	n/a
28	EP300	chr5:74532590-74533078	H1-hESC	embryonic stem cell:	n/a	chr5:74532924-74532940 chr5:74532795-74532811 chr5:74533061-74533077 chr5:74532808-74532815
29	STAT1	chr5:74532458-74533216	GM12878	blood:	n/a	n/a
30	CBX3	chr5:74532596-74533042	K562	blood:	n/a	n/a
31	PAX5	chr5:74532622-74532983	GM12878	blood:	n/a	chr5:74532824-74532833 chr5:74532826-74532835 chr5:74532828-74532837
32	NRF1	chr5:74532575-74533108	GM12878	blood:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841 chr5:74532827-74532838
33	SP1	chr5:74532542-74533030	H1-hESC	embryonic stem cell:	n/a	chr5:74532786-74532796 chr5:74532785-74532796 chr5:74532787-74532796 chr5:74532786-74532795 chr5:74532785-74532797 chr5:74532786-74532800 chr5:74532785-74532797 chr5:74532786-74532795 chr5:74532847-74532857 chr5:74532786-74532796
34	CTCF	chr5:74532598-74532882	GM19239	blood:	n/a	chr5:74532789-74532802 chr5:74532628-74532641
35	ZMIZ1	chr5:74532532-74533118	K562	blood:	n/a	n/a
36	SMC3	chr5:74532536-74533124	HepG2	liver:	n/a	chr5:74532789-74532799
37	CTCF	chr5:74532489-74532990	A549	lung:	n/a	chr5:74532789-74532802 chr5:74532628-74532641
38	ZNF384	chr5:74532563-74533288	K562	blood:	n/a	n/a
39	TBP	chr5:74532615-74533055	GM12878	blood:	n/a	n/a
40	MYC	chr5:74532218-74532829	H1-hESC	embryonic stem cell:	n/a	chr5:74532299-74532309
41	POLR2A	chr5:74532538-74533137	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr5:74532640-74532790	WERI-Rb-1	eye:	n/a	n/a
43	POLR2A	chr5:74532584-74533091	HUVEC	blood vessel:	n/a	n/a
44	GABPA	chr5:74532530-74533114	A549	lung:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841
45	GABPA	chr5:74532611-74532989	HepG2	liver:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841
46	POLR2A	chr5:74532456-74533089	HCT-116	colon:	n/a	n/a
47	CREB1	chr5:74532526-74533089	A549	lung:	n/a	n/a
48	CTCF	chr5:74532337-74533225	K562	blood:	n/a	chr5:74532789-74532802 chr5:74532628-74532641
49	POLR2A	chr5:74532465-74533180	HEK293	kidney:	n/a	n/a
50	PAX5	chr5:74532605-74532988	GM12878	blood:	n/a	chr5:74532824-74532833 chr5:74532826-74532835 chr5:74532828-74532837

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74532153..74534047-chr5:74632305..74633924,2	MCF-7	breast:
2	chr5:74532409..74533382-chr5:74632361..74633307,2	Hela-S3	cervix:

Variant related genes	Relation type
ANKRD31	TF binding region
ENSG00000113161	Chromatin interaction
ENSG00000247372	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10058171	0.91[ASN][1000 genomes]
rs10942731	0.91[ASN][1000 genomes]
rs12173218	0.87[ASN][1000 genomes]
rs1477931	0.86[ASN][1000 genomes]
rs17671266	1.00[ASN][1000 genomes]
rs17738746	0.88[ASN][1000 genomes]
rs1833722	1.00[ASN][1000 genomes]
rs4298240	0.82[ASN][1000 genomes]
rs4703656	1.00[ASN][1000 genomes]
rs4704193	0.88[ASN][1000 genomes]
rs4704195	0.84[ASN][1000 genomes]
rs4704198	0.89[ASN][1000 genomes]
rs56371963	0.83[ASN][1000 genomes]
rs59628276	0.88[ASN][1000 genomes]
rs6870235	0.88[ASN][1000 genomes]
rs6890143	0.88[ASN][1000 genomes]
rs6890320	0.88[ASN][1000 genomes]
rs6893216	0.88[ASN][1000 genomes]
rs6896496	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763033	0.88[ASN][1000 genomes]
rs73763040	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448834	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv882190	chr5:74463185-74554826	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv882191	chr5:74478078-74554826	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74531600-74533400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:74531800-74533200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:74531800-74533200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr5:74531800-74533400	Active TSS	Brain Angular Gyrus	brain
5	chr5:74531800-74533400	Active TSS	Stomach Smooth Muscle	stomach
6	chr5:74532000-74532800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:74532000-74533000	Active TSS	Adipose Nuclei	Adipose
8	chr5:74532000-74533000	Active TSS	Fetal Brain Female	brain
9	chr5:74532000-74533400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:74532000-74533400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:74532000-74533400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:74532000-74533400	Active TSS	HSMMtube	muscle
13	chr5:74532000-74533600	Active TSS	Brain Anterior Caudate	brain
14	chr5:74532000-74533600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:74532200-74532800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:74532200-74532800	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr5:74532200-74532800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:74532200-74533000	Active TSS	Esophagus	oesophagus
19	chr5:74532200-74533000	Active TSS	Placenta Amnion	Placenta Amnion
20	chr5:74532200-74533000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr5:74532200-74533000	Transcr. at gene 5' and 3'	Right Atrium	heart
22	chr5:74532200-74533000	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:74532200-74533200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:74532200-74533200	Active TSS	Aorta	Aorta
25	chr5:74532200-74533200	Active TSS	Gastric	stomach
26	chr5:74532200-74533200	Active TSS	Ovary	ovary
27	chr5:74532200-74533200	Active TSS	Right Ventricle	heart
28	chr5:74532200-74533400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr5:74532200-74533400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:74532200-74533400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:74532200-74533400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:74532200-74533400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr5:74532200-74533400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:74532200-74533400	Active TSS	Psoas Muscle	Psoas
35	chr5:74532200-74533400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:74532200-74533400	Active TSS	Rectal Smooth Muscle	rectum
37	chr5:74532200-74533400	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr5:74532200-74533400	Active TSS	HepG2	liver
39	chr5:74532200-74533400	Active TSS	NHDF-Ad	bronchial
40	chr5:74532400-74532800	Active TSS	HMEC	breast
41	chr5:74532400-74533000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:74532400-74533000	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr5:74532400-74533000	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:74532400-74533000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:74532400-74533000	Active TSS	Colon Smooth Muscle	Colon
46	chr5:74532400-74533000	Active TSS	Fetal Heart	heart
47	chr5:74532400-74533000	Active TSS	Fetal Kidney	kidney
48	chr5:74532400-74533000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr5:74532400-74533000	Active TSS	GM12878-XiMat	blood
50	chr5:74532400-74533000	Active TSS	Hela-S3	cervix

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