Variant report

Variant	rs868106
Chromosome Location	chr2:172378818-172378819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr2:172378535-172379214	K562	blood:	n/a	n/a
2	MAZ	chr2:172378512-172380455	K562	blood:	n/a	n/a
3	TAF1	chr2:172378625-172380266	H1-hESC	embryonic stem cell:	n/a	n/a
4	STAT5A	chr2:172378382-172380720	GM12878	blood:	n/a	n/a
5	SP1	chr2:172378678-172379191	A549	lung:	n/a	chr2:172378847-172378856 chr2:172378848-172378857 chr2:172378847-172378857 chr2:172378847-172378857
6	POLR2A	chr2:172378462-172380386	GM12891	blood:	n/a	n/a
7	BCLAF1	chr2:172378314-172379280	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:172378591-172379460	Gliobla	brain:	n/a	n/a
9	POLR2A	chr2:172378485-172380485	GM18505	blood:	n/a	n/a
10	TCF3	chr2:172378787-172379189	GM12878	blood:	n/a	n/a
11	MAX	chr2:172378437-172380428	A549	lung:	n/a	n/a
12	MAZ	chr2:172378413-172380642	IMR90	lung:	n/a	n/a
13	POLR2A	chr2:172378749-172380360	HEK293	kidney:	n/a	n/a
14	BHLHE40	chr2:172378595-172378989	GM12878	blood:	n/a	n/a
15	YY1	chr2:172378672-172379096	A549	lung:	n/a	chr2:172378827-172378838
16	POLR2A	chr2:172378717-172379543	H1-hESC	embryonic stem cell:	n/a	n/a
17	PAX5	chr2:172378717-172379125	GM12892	blood:	n/a	n/a
18	E2F4	chr2:172378628-172378998	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:172378481-172379276	HCT-116	colon:	n/a	n/a
20	STAT5A	chr2:172378299-172378935	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:172378580-172379171	SK-N-SH	brain:	n/a	n/a
22	E2F6	chr2:172378427-172380310	K562	blood:	n/a	chr2:172378789-172378800 chr2:172379380-172379392 chr2:172379517-172379527 chr2:172380298-172380305 chr2:172379511-172379520 chr2:172379690-172379699
23	POU2F2	chr2:172378534-172378968	GM12891	blood:	n/a	n/a
24	EBF1	chr2:172378524-172378999	GM12878	blood:	n/a	n/a
25	EP300	chr2:172377936-172379062	K562	blood:	n/a	chr2:172378829-172378838 chr2:172378822-172378838
26	POLR2A	chr2:172378424-172380890	HL-60	blood:	n/a	n/a
27	YY1	chr2:172378239-172379265	GM12892	blood:	n/a	chr2:172378827-172378838
28	CHD1	chr2:172378626-172378877	H1-hESC	embryonic stem cell:	n/a	n/a
29	GTF2B	chr2:172378627-172379225	K562	blood:	n/a	n/a
30	CTCF	chr2:172378565-172378855	GM12892	blood:	n/a	n/a
31	CTBP2	chr2:172378602-172380376	H1-hESC	embryonic stem cell:	n/a	n/a
32	SRF	chr2:172378718-172379018	GM12878	blood:	n/a	n/a
33	GTF2F1	chr2:172378621-172379055	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:172378493-172379231	GM12891	blood:	n/a	n/a
35	MYC	chr2:172378590-172379118	K562	blood:	n/a	n/a
36	MAX	chr2:172378532-172380794	NB4	blood:	n/a	n/a
37	POLR2A	chr2:172378344-172379190	IMR90	lung:	n/a	n/a
38	MAX	chr2:172378435-172379125	K562	blood:	n/a	n/a
39	NR2F2	chr2:172377897-172380493	K562	blood:	n/a	n/a
40	ZBTB7A	chr2:172378702-172380150	ECC-1	luminal epithelium:	n/a	n/a
41	ATF1	chr2:172378391-172378984	K562	blood:	n/a	n/a
42	ZNF384	chr2:172378630-172379093	K562	blood:	n/a	n/a
43	CBX3	chr2:172378456-172379076	K562	blood:	n/a	n/a
44	USF1	chr2:172378674-172378978	K562	blood:	n/a	n/a
45	SIN3A	chr2:172378523-172380849	H1-hESC	embryonic stem cell:	n/a	chr2:172379499-172379510 chr2:172379828-172379841 chr2:172379509-172379520
46	RCOR1	chr2:172378661-172379102	GM12878	blood:	n/a	n/a
47	NFIC	chr2:172378350-172379409	GM12878	blood:	n/a	n/a
48	TAF1	chr2:172378540-172379203	GM12878	blood:	n/a	n/a
49	TBP	chr2:172378517-172379121	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:172378511-172380419	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172378791-172378841	T-47D	breast:	n/a
2	chr2:172378774-172378824	SKMC	muscle:	n/a
3	chr2:172378791-172378841	BJ	skin:	n/a
4	chr2:172378791-172378841	SK-N-MC	brain:	n/a
5	chr2:172378774-172378824	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:172378774-172378824	HIPEpiC	eye:	n/a
7	chr2:172378791-172378841	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:172378774-172378824	HMEC	breast:	n/a
9	chr2:172378774-172378824	HCF	heart:	n/a
10	chr2:172378774-172378824	IMR90	lung:	fetal
11	chr2:172378774-172378824	HNPCEpiC	eye:	n/a
12	chr2:172378774-172378824	HRCEpiC	kidney:	n/a
13	chr2:172378791-172378841	GM12878	blood:	n/a
14	chr2:172378791-172378841	HMEC	breast:	n/a
15	chr2:172378791-172378841	SAEC	small airway:	n/a
16	chr2:172378774-172378824	Jurkat	blood:	n/a
17	chr2:172378791-172378841	PFSK-1	brain:	n/a
18	chr2:172378791-172378841	AG10803	skin:	n/a
19	chr2:172378791-172378841	HIPEpiC	eye:	n/a
20	chr2:172378791-172378841	MCF-7	breast:	n/a
21	chr2:172378774-172378824	ECC-1	luminal epithelium:	n/a
22	chr2:172378791-172378841	HepG2	liver:	n/a
23	chr2:172378774-172378824	GM06990	blood:	n/a
24	chr2:172378791-172378841	HRPEpiC	eye:	n/a
25	chr2:172378774-172378824	SK-N-SH_RA	brain:	n/a
26	chr2:172378774-172378824	HL-60	blood:	n/a
27	chr2:172378791-172378841	HL-60	blood:	n/a
28	chr2:172378791-172378841	NB4	blood:	n/a
29	chr2:172378774-172378824	LNCaP	prostate:	n/a
30	chr2:172378774-172378824	H1-hESC	embryonic stem cell:	embryo
31	chr2:172378774-172378824	AG09309	skin:	n/a
32	chr2:172378791-172378841	LNCaP	prostate:	n/a
33	chr2:172378774-172378824	RPTEC	kidney:	n/a
34	chr2:172378774-172378824	Hela-S3	cervix:	n/a
35	chr2:172378774-172378824	BE2_C	brain:	n/a
36	chr2:172378774-172378824	A549	lung:	n/a
37	chr2:172378791-172378841	RPTEC	kidney:	n/a
38	chr2:172378774-172378824	HEEpiC	esophagus:	n/a
39	chr2:172378791-172378841	HCF	heart:	n/a
40	chr2:172378791-172378841	ECC-1	luminal epithelium:	n/a
41	chr2:172378774-172378824	HCPEpiC	choroid plexus:	n/a
42	chr2:172378791-172378841	HAEpiC	amniotic membrane:	n/a
43	chr2:172378791-172378841	A549	lung:	n/a
44	chr2:172378791-172378841	MCF10A-Er-Src	breast:	n/a
45	chr2:172378774-172378824	HUVEC	blood vessel:	n/a
46	chr2:172378774-172378824	HRE	kidney:	n/a
47	chr2:172378791-172378841	HEEpiC	esophagus:	n/a
48	chr2:172378774-172378824	HEK293	kidney:	embryo
49	chr2:172378791-172378841	NHBE	bronchial:	n/a
50	chr2:172378791-172378841	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:172288399..172293582-chr2:172376630..172381034,10	K562	blood:
2	chr2:172344598..172348821-chr2:172376554..172380965,4	K562	blood:
3	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:
4	chr2:171784693..171786944-chr2:172376735..172379477,2	K562	blood:
5	chr2:172377500..172380432-chr2:172864656..172866178,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233762	TF binding region
CYBRD1	TF binding region
ENSG00000233762	CpG island
CYBRD1	CpG island
ENSG00000123600	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000228507	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10199858	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6706526	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6749185	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs960748	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs960749	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs960750	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs868106	CYBRD1	cis	Adipose Subcutaneous	GTEx
rs868106	CYBRD1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172378000-172379000	Enhancers	Stomach Mucosa	stomach
2	chr2:172378200-172379200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:172378200-172380800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:172378200-172381200	Active TSS	Right Atrium	heart
5	chr2:172378400-172379000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr2:172378400-172379000	Active TSS	Colonic Mucosa	Colon
7	chr2:172378400-172379000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr2:172378400-172379000	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr2:172378400-172379000	Enhancers	Spleen	Spleen
10	chr2:172378400-172379000	Flanking Active TSS	NHEK	skin
11	chr2:172378400-172379200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr2:172378400-172379200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:172378400-172379200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:172378400-172379200	Flanking Active TSS	Fetal Thymus	thymus
15	chr2:172378400-172379200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr2:172378400-172379200	Flanking Active TSS	HUVEC	blood vessel
17	chr2:172378400-172379400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr2:172378400-172379400	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr2:172378400-172380000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:172378400-172380200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:172378400-172380400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:172378400-172380400	Active TSS	GM12878-XiMat	blood
23	chr2:172378400-172380400	Active TSS	Hela-S3	cervix
24	chr2:172378400-172380600	Active TSS	Thymus	Thymus
25	chr2:172378400-172380600	Flanking Bivalent TSS/Enh	Dnd41	blood
26	chr2:172378400-172380800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr2:172378400-172380800	Active TSS	Right Ventricle	heart
28	chr2:172378400-172381000	Active TSS	Ovary	ovary
29	chr2:172378400-172381000	Flanking Active TSS	HMEC	breast
30	chr2:172378600-172379000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:172378600-172379000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
32	chr2:172378600-172379000	Active TSS	Fetal Stomach	stomach
33	chr2:172378600-172379000	Enhancers	Small Intestine	intestine
34	chr2:172378600-172379200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:172378600-172379200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:172378600-172379400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:172378600-172379400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr2:172378600-172379600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:172378600-172380000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:172378600-172380200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr2:172378600-172380200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:172378600-172380400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr2:172378600-172380400	Active TSS	Brain Hippocampus Middle	brain
44	chr2:172378600-172380400	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr2:172378600-172380600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:172378600-172380600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:172378600-172380600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:172378600-172380600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:172378600-172380600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:172378600-172380600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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