Variant report

Variant	rs259050
Chromosome Location	chr5:79703034-79703035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:79702723-79704576	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:79703007-79704198	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:79702707-79704564	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:79702988-79704475	K562	blood:	n/a	n/a
5	HEY1	chr5:79702754-79703210	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:79702811-79704530	MCF-7	breast:	n/a	n/a
7	EP300	chr5:79702692-79703068	HepG2	liver:	n/a	n/a
8	BATF	chr5:79702831-79703059	GM12878	blood:	n/a	n/a
9	MAX	chr5:79702770-79704417	HepG2	liver:	n/a	chr5:79703781-79703791
10	POLR2A	chr5:79702953-79704275	HUVEC	blood vessel:	n/a	n/a
11	HEY1	chr5:79702667-79704536	HepG2	liver:	n/a	chr5:79704343-79704358 chr5:79704318-79704333
12	MAZ	chr5:79702910-79704647	IMR90	lung:	n/a	chr5:79703781-79703791
13	POLR2A	chr5:79703012-79704387	SK-N-SH	brain:	n/a	n/a
14	MTA3	chr5:79702958-79703885	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:79702696-79704071	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:79702771-79704501	MCF10A-Er-Src	breast:	n/a	n/a
17	TBP	chr5:79702761-79703034	HepG2	liver:	n/a	n/a
18	E2F4	chr5:79702940-79703119	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:79702977-79704109	K562	blood:	n/a	n/a
20	SETDB1	chr5:79702894-79703284	U2OS	brain:	n/a	n/a
21	BHLHE40	chr5:79702743-79703134	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:79702835-79703094	ProgFib	skin:	n/a	n/a
23	POLR2A	chr5:79702815-79704567	IMR90	lung:	n/a	n/a
24	POLR2A	chr5:79702832-79703181	HepG2	liver:	n/a	n/a
25	ARID3A	chr5:79702764-79704542	HepG2	liver:	n/a	n/a
26	REST	chr5:79702722-79703036	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:79702918-79704461	GM12892	blood:	n/a	n/a
28	POLR2A	chr5:79702959-79704377	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:79702800-79703103	MCF-7	breast:	n/a	n/a
30	HCFC1	chr5:79702976-79704741	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:79702995-79704562	GM12892	blood:	n/a	n/a
32	POLR2A	chr5:79702720-79704498	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:79702822-79704503	GM18505	blood:	n/a	n/a
34	POLR2A	chr5:79702998-79704502	GM18951	blood:	n/a	n/a
35	POLR2A	chr5:79702881-79704427	Raji	blood:	n/a	n/a
36	POLR2A	chr5:79702834-79703348	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr5:79703001-79704640	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr5:79702792-79705373	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:79702624-79704535	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:79702802-79704526	GM19099	blood:	n/a	n/a
41	CBX3	chr5:79702792-79704555	K562	blood:	n/a	n/a
42	POLR2A	chr5:79702779-79703090	MCF-7	breast:	n/a	n/a
43	ZNF263	chr5:79702905-79704909	HEK293-T-REx	kidney:	n/a	n/a
44	CHD1	chr5:79702934-79704952	IMR90	lung:	n/a	chr5:79704032-79704042
45	POLR2A	chr5:79702845-79704178	PBDE	blood:	n/a	n/a
46	MYBL2	chr5:79702921-79704016	HepG2	liver:	n/a	n/a
47	POLR2A	chr5:79702785-79703078	HepG2	liver:	n/a	n/a
48	POLR2A	chr5:79703011-79704587	Hela-S3	cervix:	n/a	n/a
49	RELA	chr5:79702989-79704351	GM15510	blood:	n/a	n/a
50	POLR2A	chr5:79702991-79704500	GM15510	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79691909..79693908-chr5:79702034..79703785,2	MCF-7	breast:
2	chr5:79694018..79695713-chr5:79701443..79703273,2	MCF-7	breast:
3	chr5:79702243..79704187-chr6:26156488..26158123,2	MCF-7	breast:
4	chr16:31492241..31494807-chr5:79702904..79705274,2	MCF-7	breast:
5	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:
6	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:

No data

Variant related genes	Relation type
ZFYVE16	TF binding region
ENSG00000228716	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000113318	Chromatin interaction
ENSG00000164300	Chromatin interaction

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

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

rs_ID	r²[population]
rs187262	1.00[ASN][1000 genomes]
rs2547498	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525400	1.00[ASN][1000 genomes]
rs386403	1.00[ASN][1000 genomes]
rs56067251	1.00[ASN][1000 genomes]
rs62366867	1.00[ASN][1000 genomes]
rs62366868	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79702600-79703200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr5:79702600-79703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:79702600-79703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:79702600-79703200	Flanking Active TSS	Colon Smooth Muscle	Colon
5	chr5:79702600-79703200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr5:79702600-79703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:79702600-79703600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr5:79702600-79704600	Active TSS	Colonic Mucosa	Colon
9	chr5:79702600-79705400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:79702600-79705400	Active TSS	Brain Anterior Caudate	brain
11	chr5:79702600-79705400	Active TSS	HSMMtube	muscle
12	chr5:79702600-79706000	Active TSS	Fetal Kidney	kidney
13	chr5:79702600-79706000	Active TSS	NHLF	lung
14	chr5:79702800-79703200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:79702800-79703200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:79702800-79703200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:79702800-79703200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr5:79702800-79703200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:79702800-79703200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:79702800-79703200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr5:79702800-79703200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr5:79702800-79703200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr5:79702800-79703200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr5:79702800-79703200	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr5:79702800-79703200	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr5:79702800-79703200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr5:79702800-79703200	Flanking Active TSS	Placenta	Placenta
28	chr5:79702800-79703200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr5:79702800-79703200	Flanking Active TSS	Dnd41	blood
30	chr5:79702800-79703200	Flanking Active TSS	GM12878-XiMat	blood
31	chr5:79702800-79703200	Flanking Active TSS	HUVEC	blood vessel
32	chr5:79702800-79703200	Flanking Active TSS	Osteobl	bone
33	chr5:79702800-79703400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr5:79702800-79703400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr5:79702800-79703400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr5:79702800-79704000	Active TSS	HepG2	liver
37	chr5:79702800-79704400	Active TSS	Primary T cells from cord blood	blood
38	chr5:79702800-79704600	Active TSS	Adipose Nuclei	Adipose
39	chr5:79702800-79704600	Active TSS	Liver	Liver
40	chr5:79702800-79704600	Active TSS	Left Ventricle	heart
41	chr5:79702800-79704600	Active TSS	Lung	lung
42	chr5:79702800-79704800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:79702800-79704800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:79702800-79704800	Active TSS	Thymus	Thymus
45	chr5:79702800-79705000	Active TSS	Fetal Intestine Large	intestine
46	chr5:79702800-79705200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:79702800-79705400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:79702800-79705400	Active TSS	Brain Cingulate Gyrus	brain
49	chr5:79702800-79705400	Active TSS	Hela-S3	cervix
50	chr5:79702800-79705400	Active TSS	HSMM	muscle

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