Variant report

Variant	rs3021478
Chromosome Location	chr1:158147640-158147641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:158147557-158147734	K562	blood:	n/a	n/a
2	TAF1	chr1:158147573-158147729	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr1:158147455-158147761	K562	blood:	n/a	n/a
4	POLR2A	chr1:158147408-158147726	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:158147408-158147862	Gliobla	brain:	n/a	n/a
6	POLR2A	chr1:158147551-158147701	A549	lung:	n/a	n/a
7	E2F6	chr1:158147522-158147672	K562	blood:	n/a	chr1:158147621-158147631 chr1:158147564-158147574
8	POLR2A	chr1:158147544-158147729	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:158147566-158147705	HepG2	liver:	n/a	n/a
10	CTCF	chr1:158147500-158147650	HMEC	breast:	n/a	n/a
11	TAF1	chr1:158147559-158147719	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:158147372-158147935	ProgFib	skin:	n/a	n/a
13	HEY1	chr1:158147466-158147752	HepG2	liver:	n/a	chr1:158147725-158147740
14	MYC	chr1:158147461-158147734	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:158147500-158147650	HRE	kidney:	n/a	n/a
16	NFYB	chr1:158147552-158147933	K562	blood:	n/a	n/a
17	CTCF	chr1:158147621-158147656	MCF-7	breast:	n/a	n/a
18	TAF1	chr1:158147333-158147850	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr1:158147528-158147799	K562	blood:	n/a	n/a
20	POLR2A	chr1:158147306-158147773	GM12892	blood:	n/a	n/a
21	POLR2A	chr1:158147342-158147798	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:158147457-158147737	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:158147581-158147693	A549	lung:	n/a	n/a
24	TAF1	chr1:158147465-158147766	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr1:158147392-158147727	K562	blood:	n/a	chr1:158147566-158147575 chr1:158147561-158147575
26	POLR2A	chr1:158147575-158147688	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:158147541-158147716	A549	lung:	n/a	n/a
28	TAF1	chr1:158147558-158147744	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:158147309-158147954	MCF-7	breast:	n/a	n/a
30	HEY1	chr1:158147569-158147669	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:158147565-158147678	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:158147231-158147925	MCF-7	breast:	n/a	n/a
33	TBP	chr1:158147569-158147725	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr1:158147554-158147683	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:158147506-158147763	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:158147440-158147765	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:158146530-158148399	K562	blood:	n/a	n/a
38	TAF1	chr1:158147473-158147732	HepG2	liver:	n/a	n/a
39	EGR1	chr1:158147636-158147875	K562	blood:	n/a	chr1:158147804-158147814 chr1:158147802-158147811
40	POLR2A	chr1:158147556-158147709	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:158147353-158147910	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:158147584-158147700	A549	lung:	n/a	n/a
43	UBTF	chr1:158147532-158147792	K562	blood:	n/a	n/a
44	POLR2A	chr1:158147413-158147836	HUVEC	blood vessel:	n/a	n/a
45	MAZ	chr1:158147433-158148058	IMR90	lung:	n/a	n/a
46	POLR2A	chr1:158147565-158147688	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:158147616-158147651	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:158147568-158147702	A549	lung:	n/a	n/a
49	TAF1	chr1:158147475-158147803	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:158147566-158147676	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158147629-158147679	BJ	skin:	n/a
2	chr1:158147629-158147679	NHBE	bronchial:	n/a
3	chr1:158147629-158147679	MCF10A-Er-Src	breast:	n/a
4	chr1:158147629-158147679	HRCEpiC	kidney:	n/a
5	chr1:158147629-158147679	A549	lung:	n/a
6	chr1:158147629-158147679	MCF-7	breast:	n/a
7	chr1:158147629-158147679	LNCaP	prostate:	n/a
8	chr1:158147629-158147679	GM19239	blood:	n/a
9	chr1:158147629-158147679	AG09309	skin:	n/a
10	chr1:158147629-158147679	HCT-116	colon:	n/a
11	chr1:158147629-158147679	U87	brain:	n/a
12	chr1:158147629-158147679	ECC-1	luminal epithelium:	n/a
13	chr1:158147629-158147679	PANC-1	pancreas:	n/a
14	chr1:158147629-158147679	AG09319	gingival:	n/a
15	chr1:158147629-158147679	SAEC	small airway:	n/a
16	chr1:158147629-158147679	HCF	heart:	n/a
17	chr1:158147629-158147679	SKMC	muscle:	n/a
18	chr1:158147629-158147679	GM12891	blood:	n/a
19	chr1:158147629-158147679	GM12892	blood:	n/a
20	chr1:158147629-158147679	RPTEC	kidney:	n/a
21	chr1:158147629-158147679	HEK293	kidney:	embryo
22	chr1:158147629-158147679	HCPEpiC	choroid plexus:	n/a
23	chr1:158147629-158147679	BE2_C	brain:	n/a
24	chr1:158147629-158147679	HAEpiC	amniotic membrane:	n/a
25	chr1:158147629-158147679	HRE	kidney:	n/a
26	chr1:158147629-158147679	NHDF-neo	bronchial:	n/a
27	chr1:158147629-158147679	SK-N-SH_RA	brain:	n/a
28	chr1:158147629-158147679	IMR90	lung:	fetal
29	chr1:158147629-158147679	AG10803	skin:	n/a
30	chr1:158147629-158147679	AG04450	lung:	fetal
31	chr1:158147629-158147679	NH-A	brain:	n/a
32	chr1:158147629-158147679	PFSK-1	brain:	n/a
33	chr1:158147629-158147679	GM06990	blood:	n/a
34	chr1:158147629-158147679	Caco-2	colon:	n/a
35	chr1:158147629-158147679	NT2-D1	testis:	n/a
36	chr1:158147629-158147679	Hepatocyte	liver:	n/a
37	chr1:158147629-158147679	HIPEpiC	eye:	n/a
38	chr1:158147629-158147679	HepG2	liver:	n/a
39	chr1:158147629-158147679	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:158147629-158147679	GM12878	blood:	n/a
41	chr1:158147629-158147679	SK-N-SH	brain:	n/a
42	chr1:158147629-158147679	PrEC	prostate:	n/a
43	chr1:158147629-158147679	HCM	heart:	n/a
44	chr1:158147629-158147679	AoSMC	blood vessel:	n/a
45	chr1:158147629-158147679	HL-60	blood:	n/a
46	chr1:158147629-158147679	H1-hESC	embryonic stem cell:	embryo
47	chr1:158147629-158147679	HNPCEpiC	eye:	n/a
48	chr1:158147629-158147679	SK-N-MC	brain:	n/a
49	chr1:158147629-158147679	Hela-S3	cervix:	n/a
50	chr1:158147629-158147679	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
CD1D	TF binding region
ELL2P1	TF binding region
ELL2P1	CpG island
CD1D	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489821	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10489823	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12409273	0.83[AMR][1000 genomes]
rs1570699	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16839951	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1980757	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3021476	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087210	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087211	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087212	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087213	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55819216	0.83[AMR][1000 genomes]
rs56379344	0.80[AMR][1000 genomes]
rs6671299	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6692064	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6692133	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72711995	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72711999	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7513330	0.83[AMR][1000 genomes]
rs7527480	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7530662	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7548147	0.81[EUR][1000 genomes]
rs7550767	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7556487	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs859001	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859002	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859003	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859005	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859008	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859009	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859010	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs859011	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859013	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158143800-158149000	Weak transcription	Small Intestine	intestine
2	chr1:158147000-158148000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:158147000-158148000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:158147000-158148000	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr1:158147000-158148200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:158147000-158148200	Active TSS	HSMMtube	muscle
7	chr1:158147000-158148400	Active TSS	Psoas Muscle	Psoas
8	chr1:158147000-158150000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:158147000-158150400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:158147200-158147800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:158147200-158147800	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:158147200-158147800	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:158147200-158148000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:158147200-158148000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:158147200-158148000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:158147200-158148000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:158147200-158148000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:158147200-158148000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:158147200-158148000	Active TSS	Brain Hippocampus Middle	brain
20	chr1:158147200-158148000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:158147200-158148000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr1:158147200-158148000	Active TSS	Fetal Intestine Large	intestine
23	chr1:158147200-158148000	Bivalent/Poised TSS	NH-A	brain
24	chr1:158147200-158148000	Active TSS	NHEK	skin
25	chr1:158147200-158148200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:158147200-158148200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:158147200-158148200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:158147200-158148200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:158147200-158148200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:158147200-158148200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:158147200-158148200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:158147200-158148200	Active TSS	Fetal Muscle Leg	muscle
33	chr1:158147200-158148200	Active TSS	Right Atrium	heart
34	chr1:158147200-158148200	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:158147200-158148400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:158147200-158148400	Active TSS	Primary T cells from cord blood	blood
37	chr1:158147200-158148400	Active TSS	Adipose Nuclei	Adipose
38	chr1:158147200-158148400	Active TSS	Liver	Liver
39	chr1:158147400-158147800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:158147400-158147800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:158147400-158147800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr1:158147400-158147800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr1:158147400-158147800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:158147400-158147800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:158147400-158147800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:158147400-158147800	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr1:158147400-158147800	Enhancers	Primary B cells from cord blood	blood
48	chr1:158147400-158147800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
49	chr1:158147400-158147800	Active TSS	Brain Anterior Caudate	brain
50	chr1:158147400-158147800	Bivalent/Poised TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links