Variant report

Variant	rs1776026
Chromosome Location	chr1:220102189-220102190
allele	C/T
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	ZBTB7A	chr1:220101059-220102271	K562	blood:	n/a	n/a
2	POLR2A	chr1:220101623-220102414	HepG2	liver:	n/a	n/a
3	EGR1	chr1:220101833-220102283	K562	blood:	n/a	chr1:220102125-220102140 chr1:220101852-220101862 chr1:220102126-220102139 chr1:220101976-220101998 chr1:220102126-220102139
4	HMGN3	chr1:220101104-220102208	K562	blood:	n/a	n/a
5	RCOR1	chr1:220100916-220102468	K562	blood:	n/a	n/a
6	FOXA1	chr1:220101799-220102436	HepG2	liver:	n/a	n/a
7	MXI1	chr1:220101186-220102283	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:220101770-220102285	K562	blood:	n/a	n/a
9	CBX3	chr1:220101828-220102373	K562	blood:	n/a	n/a
10	MAX	chr1:220101220-220102243	K562	blood:	n/a	chr1:220101980-220101990
11	CTCF	chr1:220102007-220102201	K562	blood:	n/a	n/a
12	FOXA1	chr1:220101883-220102515	HepG2	liver:	n/a	n/a
13	MYC	chr1:220101132-220102310	K562	blood:	n/a	chr1:220101980-220101990
14	NFIC	chr1:220101832-220102267	HepG2	liver:	n/a	chr1:220102056-220102072 chr1:220102056-220102073
15	E2F6	chr1:220101088-220102381	K562	blood:	n/a	chr1:220101853-220101862
16	ZNF143	chr1:220102134-220102204	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:220101804-220102232	K562	blood:	n/a	n/a
18	CTCF	chr1:220102060-220102210	WERI-Rb-1	eye:	n/a	n/a
19	YY1	chr1:220101158-220102297	HepG2	liver:	n/a	chr1:220102115-220102126 chr1:220101907-220101918
20	EP300	chr1:220101981-220102238	K562	blood:	n/a	n/a
21	ZBTB7A	chr1:220101869-220102312	K562	blood:	n/a	n/a
22	TBP	chr1:220102088-220102284	H1-hESC	embryonic stem cell:	n/a	n/a
23	BHLHE40	chr1:220101169-220102218	K562	blood:	n/a	n/a
24	MAX	chr1:220101784-220102197	HepG2	liver:	n/a	chr1:220101980-220101990
25	SP1	chr1:220101854-220102464	HepG2	liver:	n/a	chr1:220102131-220102141 chr1:220102131-220102141
26	MYBL2	chr1:220101392-220102521	HepG2	liver:	n/a	n/a
27	RCOR1	chr1:220101337-220102230	K562	blood:	n/a	n/a
28	CTCF	chr1:220102100-220102250	SK-N-SH_RA	brain:	n/a	n/a
29	RAD21	chr1:220102120-220102241	HepG2	liver:	n/a	n/a
30	CTCF	chr1:220101903-220102279	K562	blood:	n/a	n/a
31	E2F6	chr1:220100966-220102368	H1-hESC	embryonic stem cell:	n/a	chr1:220101853-220101862
32	POLR2A	chr1:220101565-220102372	HepG2	liver:	n/a	n/a
33	MAX	chr1:220101811-220102296	H1-hESC	embryonic stem cell:	n/a	chr1:220101980-220101990
34	CTCF	chr1:220102040-220102190	K562	blood:	n/a	n/a
35	POLR2A	chr1:220101106-220102231	HepG2	liver:	n/a	n/a
36	CCNT2	chr1:220101113-220102309	K562	blood:	n/a	n/a
37	EGR1	chr1:220101880-220102255	K562	blood:	n/a	chr1:220102125-220102140 chr1:220102126-220102139 chr1:220101976-220101998 chr1:220102126-220102139
38	MAX	chr1:220101119-220102899	HepG2	liver:	n/a	chr1:220102788-220102798 chr1:220101980-220101990 chr1:220102786-220102795
39	HCFC1	chr1:220101199-220102249	K562	blood:	n/a	n/a
40	NFIC	chr1:220101770-220102365	ECC-1	luminal epithelium:	n/a	chr1:220102056-220102072 chr1:220102056-220102073
41	ZNF263	chr1:220100376-220102310	HEK293-T-REx	kidney:	n/a	chr1:220100778-220100787 chr1:220101091-220101100
42	MYC	chr1:220102165-220102192	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:220101176-220102272	K562	blood:	n/a	n/a
44	TAF1	chr1:220101041-220102410	HepG2	liver:	n/a	n/a
45	ZNF143	chr1:220102023-220102272	K562	blood:	n/a	n/a
46	FOXA2	chr1:220102059-220102399	HepG2	liver:	n/a	n/a
47	FOXA1	chr1:220101972-220102512	HepG2	liver:	n/a	n/a
48	NR2F2	chr1:220101250-220102272	K562	blood:	n/a	n/a
49	YY1	chr1:220101111-220102287	K562	blood:	n/a	chr1:220102115-220102126 chr1:220101907-220101918
50	CTCF	chr1:220102040-220102190	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220088203..220094141-chr1:220096602..220103368,9	K562	blood:

Variant related genes	Relation type
SLC30A10	TF binding region
ENSG00000196660	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1694583	0.87[AFR][1000 genomes]
rs1694591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1776031	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1776053	0.81[AFR][1000 genomes]
rs904325	1.00[AMR][1000 genomes]
rs904326	1.00[AMR][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220099600-220102200	Active TSS	Brain Angular Gyrus	brain
2	chr1:220099600-220102400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:220099800-220102200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr1:220099800-220102400	Active TSS	Brain Anterior Caudate	brain
5	chr1:220100000-220102800	Active TSS	Brain Cingulate Gyrus	brain
6	chr1:220100600-220102200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:220100800-220102400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:220100800-220102600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:220101000-220102200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:220101000-220102200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr1:220101000-220102200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:220101000-220102200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:220101000-220102200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:220101000-220102200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:220101000-220102200	Bivalent/Poised TSS	HSMM	muscle
16	chr1:220101000-220102200	Bivalent/Poised TSS	NH-A	brain
17	chr1:220101000-220102400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:220101000-220102400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:220101000-220102400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:220101000-220102400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:220101000-220102400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:220101000-220102400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:220101000-220102400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:220101000-220102600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr1:220101000-220102600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:220101000-220102600	Active TSS	Brain Germinal Matrix	brain
27	chr1:220101200-220102200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:220101200-220102200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr1:220101200-220102200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
37	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr1:220101200-220102200	Flanking Active TSS	Pancreas	Pancrea
39	chr1:220101200-220102200	Bivalent/Poised TSS	A549	lung
40	chr1:220101200-220102200	Active TSS	HepG2	liver
41	chr1:220101200-220102200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
42	chr1:220101200-220102400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:220101200-220102400	Bivalent Enhancer	Lung	lung
44	chr1:220101200-220102400	Bivalent/Poised TSS	NHEK	skin
45	chr1:220101400-220102200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr1:220101400-220102200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr1:220101400-220102200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr1:220101400-220102200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:220101400-220102200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr1:220101400-220102200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links