Variant report

Variant	rs7700775
Chromosome Location	chr5:179124853-179124854
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179124762-179125709	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:179124743-179127945	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:179124762-179127291	U87	brain:	n/a	n/a
4	POLR2A	chr5:179124768-179127291	U87	brain:	n/a	n/a
5	POLR2A	chr5:179124705-179127154	PFSK-1	brain:	n/a	n/a
6	PML	chr5:179124829-179127939	K562	blood:	n/a	n/a
7	POLR2A	chr5:179124836-179126974	PANC-1	pancreas:	n/a	n/a
8	REST	chr5:179124809-179127096	H1-neurons	neurons:	n/a	chr5:179126419-179126432
9	MXI1	chr5:179124817-179127952	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr5:179124787-179127911	K562	blood:	n/a	n/a
11	PML	chr5:179124785-179127152	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:179124706-179127975	GM12892	blood:	n/a	n/a
13	TEAD4	chr5:179124784-179126223	K562	blood:	n/a	n/a
14	YY1	chr5:179124771-179126230	GM12878	blood:	n/a	chr5:179126014-179126023 chr5:179125348-179125362 chr5:179125963-179125974
15	POLR2A	chr5:179124766-179127362	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:179124250-179127985	GM12878	blood:	n/a	n/a
17	CBX3	chr5:179124846-179126222	K562	blood:	n/a	n/a
18	POLR2A	chr5:179124222-179127282	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr5:179124730-179127976	GM12892	blood:	n/a	n/a
20	FOXM1	chr5:179124812-179127068	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:179124743-179125757	GM12891	blood:	n/a	n/a
22	POLR2A	chr5:179124852-179126926	HCT-116	colon:	n/a	n/a
23	YY1	chr5:179124779-179126350	GM12892	blood:	n/a	chr5:179126014-179126023 chr5:179126301-179126315 chr5:179125348-179125362 chr5:179126303-179126312 chr5:179125963-179125974 chr5:179126298-179126312
24	POLR2A	chr5:179124769-179127269	PFSK-1	brain:	n/a	n/a
25	YY1	chr5:179124839-179125733	GM12891	blood:	n/a	chr5:179125348-179125362
26	POLR2A	chr5:179124589-179129396	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:179124040-179127985	H1-hESC	embryonic stem cell:	n/a	n/a
28	NRF1	chr5:179124810-179126097	SK-N-SH	brain:	n/a	chr5:179125348-179125362 chr5:179125350-179125361
29	POLR2A	chr5:179124543-179124985	K562	blood:	n/a	n/a
30	POLR2A	chr5:179124207-179127860	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:179124760-179125771	GM12891	blood:	n/a	n/a
32	HEY1	chr5:179124776-179127923	K562	blood:	n/a	chr5:179125960-179125975
33	MTA3	chr5:179124825-179127279	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:179123704-179127859	GM12891	blood:	n/a	n/a
35	YY1	chr5:179124818-179126202	GM12878	blood:	n/a	chr5:179126014-179126023 chr5:179125348-179125362 chr5:179125963-179125974
36	MXI1	chr5:179124815-179127325	IMR90	lung:	n/a	n/a
37	POLR2A	chr5:179124775-179128000	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr5:179124838-179125771	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr5:179124782-179127961	GM12892	blood:	n/a	n/a
40	POLR2A	chr5:179124820-179125728	GM12891	blood:	n/a	n/a
41	YY1	chr5:179124823-179125734	SK-N-SH_RA	brain:	n/a	chr5:179125348-179125362
42	POLR2A	chr5:179124787-179125738	U87	brain:	n/a	n/a
43	POLR2A	chr5:179124819-179125730	Hela-S3	cervix:	n/a	n/a
44	ATF2	chr5:179124828-179125590	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:179124776-179127289	GM12891	blood:	n/a	n/a
46	NFATC1	chr5:179124837-179126027	GM12878	blood:	n/a	n/a
47	YY1	chr5:179124762-179125794	H1-hESC	embryonic stem cell:	n/a	chr5:179125348-179125362
48	RUNX3	chr5:179124838-179126428	GM12878	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179123586..179129079-chr5:179129217..179136579,19	MCF-7	breast:
2	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
3	chr5:179101962..179108661-chr5:179122383..179128408,19	MCF-7	breast:
4	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
5	chr5:179122850..179128148-chr5:179246584..179249342,5	K562	blood:
6	chr5:179047558..179053114-chr5:179123905..179129187,22	K562	blood:
7	chr5:178985235..178987908-chr5:179124412..179127341,2	MCF-7	breast:
8	chr5:179123896..179127851-chr5:179243560..179246560,5	K562	blood:
9	chr5:178976329..178981059-chr5:179123787..179127407,6	K562	blood:
10	chr5:179124684..179126939-chr5:179285490..179289046,3	MCF-7	breast:
11	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
12	chr5:178955819..178957353-chr5:179123603..179125281,2	MCF-7	breast:
13	chr5:179124597..179127055-chr5:179246139..179249577,4	MCF-7	breast:
14	chr5:179101603..179111989-chr5:179122927..179129527,32	MCF-7	breast:
15	chr5:179100838..179108153-chr5:179124449..179130181,22	K562	blood:
16	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
17	chr5:179100989..179111182-chr5:179122076..179128627,19	K562	blood:
18	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
19	chr5:179123632..179128657-chr5:179156913..179163491,14	MCF-7	breast:
20	chr5:179124533..179126912-chr5:179247842..179250922,3	K562	blood:
21	chr5:179124035..179127505-chr5:179157238..179162405,12	MCF-7	breast:
22	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:
23	chr5:179049048..179052854-chr5:179122221..179127718,16	MCF-7	breast:
24	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:

No data

Variant related genes	Relation type
CANX	TF binding region
ENSG00000161013	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000221394	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000204659	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000176783	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10063824	0.85[AFR][1000 genomes]
rs28656195	1.00[ASN][1000 genomes]
rs4391132	0.80[AFR][1000 genomes]
rs4643906	0.80[AFR][1000 genomes]
rs6601068	0.85[AFR][1000 genomes]
rs6872508	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9329087	0.84[AFR][1000 genomes];1.00[ASN][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	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179118400-179125000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179123200-179125000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:179123200-179125000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:179123200-179125000	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:179123400-179125000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:179123400-179125000	Enhancers	Fetal Intestine Small	intestine
7	chr5:179123400-179125000	Enhancers	Spleen	Spleen
8	chr5:179123600-179125000	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:179123600-179125000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:179123600-179125000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:179123600-179125000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:179123600-179125000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:179123600-179125000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:179123600-179125000	Enhancers	Brain Hippocampus Middle	brain
15	chr5:179123800-179125000	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:179123800-179125000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:179123800-179125000	Enhancers	Colon Smooth Muscle	Colon
18	chr5:179123800-179125000	Enhancers	Fetal Intestine Large	intestine
19	chr5:179123800-179125000	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:179123800-179125000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:179123800-179125000	Enhancers	Stomach Mucosa	stomach
22	chr5:179123800-179125200	Flanking Active TSS	Dnd41	blood
23	chr5:179123800-179125400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:179124000-179125000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:179124000-179125000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:179124000-179125000	Enhancers	Fetal Brain Male	brain
27	chr5:179124000-179125000	Enhancers	Placenta	Placenta
28	chr5:179124200-179125000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:179124200-179125000	Enhancers	Brain Substantia Nigra	brain
30	chr5:179124200-179125000	Enhancers	Colonic Mucosa	Colon
31	chr5:179124200-179125000	Enhancers	Fetal Muscle Leg	muscle
32	chr5:179124200-179125000	Enhancers	Fetal Stomach	stomach
33	chr5:179124200-179125000	Enhancers	Pancreas	Pancrea
34	chr5:179124200-179125000	Enhancers	Thymus	Thymus
35	chr5:179124200-179125200	Flanking Active TSS	Hela-S3	cervix
36	chr5:179124200-179125400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr5:179124200-179125800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:179124200-179127800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:179124400-179125000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:179124400-179125000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:179124400-179125000	Enhancers	Fetal Heart	heart
42	chr5:179124400-179125000	Enhancers	NHLF	lung
43	chr5:179124400-179125400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr5:179124400-179125400	Flanking Active TSS	K562	blood
45	chr5:179124400-179125400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:179124400-179127800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:179124600-179125000	Active TSS	Liver	Liver
48	chr5:179124600-179125000	Enhancers	Brain Anterior Caudate	brain
49	chr5:179124600-179125000	Enhancers	Left Ventricle	heart
50	chr5:179124600-179125000	Enhancers	Lung	lung

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