Variant report

Variant	rs3812058
Chromosome Location	chr5:126625827-126625828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:126625720-126625870	HPF	lung:	n/a	n/a
2	CTCF	chr5:126625700-126625850	AG09319	gingival:	n/a	n/a
3	CTCF	chr5:126625740-126625890	GM12872	blood:	n/a	n/a
4	CTCF	chr5:126625680-126625830	HFF-Myc	foreskin:	n/a	n/a
5	BACH1	chr5:126625661-126626405	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:126625700-126625878	Lung_OC	lung:	n/a	n/a
7	CTCF	chr5:126625661-126625925	LNCaP	prostate:	n/a	n/a
8	CTCF	chr5:126625680-126625956	NHEK	skin:	n/a	n/a
9	CTCF	chr5:126625658-126625922	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr5:126625569-126626081	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:126625700-126625850	HMF	breast:	n/a	n/a
12	CTCF	chr5:126625570-126625976	A549	lung:	n/a	n/a
13	CTCF	chr5:126625720-126625870	NHEK	skin:	n/a	n/a
14	CTCF	chr5:126625690-126625933	GM19239	blood:	n/a	n/a
15	JUND	chr5:126625629-126625946	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr5:126625740-126625890	RPTEC	kidney:	n/a	n/a
17	CTCF	chr5:126625700-126625850	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr5:126625720-126625870	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr5:126625740-126625890	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr5:126625720-126625870	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr5:126625680-126625830	GM12872	blood:	n/a	n/a
22	CTCF	chr5:126625639-126625993	Gliobla	brain:	n/a	n/a
23	RAD21	chr5:126625512-126626082	H1-hESC	embryonic stem cell:	n/a	chr5:126625793-126625812 chr5:126625773-126625786
24	CTCF	chr5:126625700-126625850	AG10803	skin:	n/a	n/a
25	CTCF	chr5:126625720-126625870	AG04450	lung:	n/a	n/a
26	CTCF	chr5:126625663-126625924	GM12878	blood:	n/a	n/a
27	CTCF	chr5:126625632-126625884	HepG2	liver:	n/a	n/a
28	CTCF	chr5:126625720-126625870	BE2_C	brain:	n/a	n/a
29	YY1	chr5:126625662-126625891	GM12878	blood:	n/a	n/a
30	CTCF	chr5:126625586-126625954	HepG2	liver:	n/a	n/a
31	CTCF	chr5:126625670-126625958	GM19238	blood:	n/a	n/a
32	CTCF	chr5:126625720-126625870	GM12878	blood:	n/a	n/a
33	SMC3	chr5:126625589-126626016	GM12878	blood:	n/a	n/a
34	CTCF	chr5:126625697-126625898	GM20000	blood:	n/a	n/a
35	CTCF	chr5:126625700-126625850	GM12870	blood:	n/a	n/a
36	CTCF	chr5:126625720-126625870	HCPEpiC	choroid plexus:	n/a	n/a
37	RAD21	chr5:126625584-126626724	H1-hESC	embryonic stem cell:	n/a	chr5:126625793-126625812 chr5:126625773-126625786 chr5:126626401-126626415
38	CTCF	chr5:126625720-126625870	GM12865	blood:	n/a	n/a
39	POLR2A	chr5:126625690-126626000	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr5:126625700-126625850	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:126625720-126625870	AG10803	skin:	n/a	n/a
42	RAD21	chr5:126625533-126626089	MCF-7	breast:	n/a	chr5:126625793-126625812 chr5:126625773-126625786
43	SMC3	chr5:126625600-126625952	HepG2	liver:	n/a	n/a
44	CTCF	chr5:126625678-126625939	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr5:126625700-126625850	SAEC	small airway:	n/a	n/a
46	CTCF	chr5:126625720-126625870	BJ	skin:	n/a	n/a
47	CTCF	chr5:126625680-126625830	GM12801	blood:	n/a	n/a
48	CTCF	chr5:126625589-126625923	K562	blood:	n/a	n/a
49	CTCF	chr5:126625720-126625870	AG04449	skin:	n/a	n/a
50	RAD21	chr5:126625656-126625956	K562	blood:	n/a	chr5:126625793-126625812 chr5:126625773-126625786

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:126625777-126625827	HL-60	blood:	n/a
2	chr5:126625777-126625827	HCF	heart:	n/a
3	chr5:126625777-126625827	SK-N-SH	brain:	n/a
4	chr5:126625777-126625827	HRPEpiC	eye:	n/a
5	chr5:126625777-126625827	GM12891	blood:	n/a
6	chr5:126625777-126625827	H1-hESC	embryonic stem cell:	embryo
7	chr5:126625777-126625827	HAEpiC	amniotic membrane:	n/a
8	chr5:126625777-126625827	HCPEpiC	choroid plexus:	n/a
9	chr5:126625777-126625827	HNPCEpiC	eye:	n/a
10	chr5:126625777-126625827	Jurkat	blood:	n/a
11	chr5:126625777-126625827	HCT-116	colon:	n/a
12	chr5:126625777-126625827	AG10803	skin:	n/a
13	chr5:126625777-126625827	PANC-1	pancreas:	n/a
14	chr5:126625777-126625827	SK-N-SH_RA	brain:	n/a
15	chr5:126625777-126625827	K562	blood:	n/a
16	chr5:126625777-126625827	Caco-2	colon:	n/a
17	chr5:126625777-126625827	NB4	blood:	n/a
18	chr5:126625777-126625827	T-47D	breast:	n/a
19	chr5:126625777-126625827	U87	brain:	n/a
20	chr5:126625777-126625827	HMEC	breast:	n/a
21	chr5:126625777-126625827	AoSMC	blood vessel:	n/a
22	chr5:126625777-126625827	NH-A	brain:	n/a
23	chr5:126625777-126625827	RPTEC	kidney:	n/a
24	chr5:126625777-126625827	GM06990	blood:	n/a
25	chr5:126625777-126625827	GM12878	blood:	n/a
26	chr5:126625777-126625827	SAEC	small airway:	n/a
27	chr5:126625777-126625827	CMK	blood:	n/a
28	chr5:126625777-126625827	MCF10A-Er-Src	breast:	n/a
29	chr5:126625777-126625827	Hela-S3	cervix:	n/a
30	chr5:126625777-126625827	Hepatocyte	liver:	n/a
31	chr5:126625777-126625827	HepG2	liver:	n/a
32	chr5:126625777-126625827	BE2_C	brain:	n/a
33	chr5:126625777-126625827	A549	lung:	n/a
34	chr5:126625777-126625827	HUVEC	blood vessel:	n/a
35	chr5:126625777-126625827	HEK293	kidney:	embryo
36	chr5:126625777-126625827	NHDF-neo	bronchial:	n/a
37	chr5:126625777-126625827	HEEpiC	esophagus:	n/a
38	chr5:126625777-126625827	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:126625777-126625827	HIPEpiC	eye:	n/a
40	chr5:126625777-126625827	SK-N-MC	brain:	n/a
41	chr5:126625777-126625827	PrEC	prostate:	n/a
42	chr5:126625777-126625827	NT2-D1	testis:	n/a
43	chr5:126625777-126625827	AG09309	skin:	n/a
44	chr5:126625777-126625827	GM19239	blood:	n/a
45	chr5:126625777-126625827	HRCEpiC	kidney:	n/a
46	chr5:126625777-126625827	IMR90	lung:	fetal
47	chr5:126625777-126625827	HCM	heart:	n/a
48	chr5:126625777-126625827	MCF-7	breast:	n/a
49	chr5:126625777-126625827	NHBE	bronchial:	n/a
50	chr5:126625777-126625827	ECC-1	luminal epithelium:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126625334..126626334-chr5:126828202..126829307,4	K562	blood:
2	chr5:126625340..126626138-chr5:126754424..126755165,2	MCF-7	breast:
3	chr5:126625437..126626272-chr5:126649473..126650186,4	MCF-7	breast:
4	chr5:126625467..126626301-chr5:126777581..126778549,4	MCF-7	breast:
5	chr5:126625421..126626248-chr5:126777545..126778246,2	MCF-7	breast:

No data

Variant related genes	Relation type
MEGF10	TF binding region
MEGF10	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10519949	1.00[CEU][hapmap]
rs12652963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12652982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12653273	0.93[ASN][1000 genomes]
rs12654455	1.00[CEU][hapmap]
rs12655913	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12658126	1.00[ASN][1000 genomes]
rs12659381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12659424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17684438	1.00[CEU][hapmap]
rs17684525	1.00[CEU][hapmap]
rs17762857	1.00[CEU][hapmap]
rs17762863	1.00[CEU][hapmap]
rs17839701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3812059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638823	0.93[ASN][1000 genomes]
rs57164852	0.93[ASN][1000 genomes]
rs58011598	0.93[ASN][1000 genomes]
rs58047377	0.93[ASN][1000 genomes]
rs58727001	0.93[ASN][1000 genomes]
rs59871357	0.93[ASN][1000 genomes]
rs60138783	0.93[ASN][1000 genomes]
rs6862045	1.00[CEU][hapmap]
rs73785546	0.93[ASN][1000 genomes]
rs73785547	0.93[ASN][1000 genomes]
rs73785555	0.93[ASN][1000 genomes]
rs73785556	0.93[ASN][1000 genomes]
rs73785558	0.93[ASN][1000 genomes]
rs7723558	0.93[ASN][1000 genomes]
rs7728190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs960927	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126625400-126626800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:126625600-126626200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:126625600-126626800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr5:126625600-126626800	Active TSS	Fetal Brain Female	brain
5	chr5:126625600-126627000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr5:126625600-126627200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126625600-126627200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:126625600-126627400	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr5:126625600-126627400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:126625600-126627800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr5:126625600-126628800	Active TSS	Brain Anterior Caudate	brain
12	chr5:126625600-126629400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:126625800-126626000	Bivalent Enhancer	Primary B cells from cord blood	blood
14	chr5:126625800-126626000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
15	chr5:126625800-126626000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:126625800-126626000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:126625800-126626000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:126625800-126626000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:126625800-126626000	Active TSS	Brain Germinal Matrix	brain
20	chr5:126625800-126626000	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr5:126625800-126626000	Active TSS	Fetal Muscle Leg	muscle
22	chr5:126625800-126626000	Enhancers	Pancreas	Pancrea
23	chr5:126625800-126626000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
24	chr5:126625800-126626000	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:126625800-126626000	Bivalent/Poised TSS	Small Intestine	intestine
26	chr5:126625800-126626000	Bivalent/Poised TSS	HMEC	breast
27	chr5:126625800-126626000	Bivalent/Poised TSS	HUVEC	blood vessel
28	chr5:126625800-126626000	Bivalent/Poised TSS	Osteobl	bone
29	chr5:126625800-126626200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:126625800-126626200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr5:126625800-126626200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:126625800-126626200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:126625800-126626200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr5:126625800-126626200	Active TSS	Ovary	ovary
35	chr5:126625800-126626200	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr5:126625800-126626400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr5:126625800-126626400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:126625800-126626400	Enhancers	Adipose Nuclei	Adipose
39	chr5:126625800-126626400	Enhancers	Liver	Liver
40	chr5:126625800-126626400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr5:126625800-126626400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr5:126625800-126626400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
43	chr5:126625800-126626400	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr5:126625800-126626400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr5:126625800-126626400	Active TSS	NHDF-Ad	bronchial
46	chr5:126625800-126626600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr5:126625800-126626600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:126625800-126626600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:126625800-126626600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:126625800-126626600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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