Variant report

Variant	rs2430223
Chromosome Location	chr7:56242584-56242585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr7:56242531-56242740	K562	blood:	n/a	n/a
2	ELF1	chr7:56242371-56242625	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56242554-56242604	HL-60	blood:	n/a
2	chr7:56242554-56242604	HNPCEpiC	eye:	n/a
3	chr7:56242554-56242604	SK-N-SH_RA	brain:	n/a
4	chr7:56242554-56242604	NH-A	brain:	n/a
5	chr7:56242554-56242604	MCF-7	breast:	n/a
6	chr7:56242554-56242604	HRCEpiC	kidney:	n/a
7	chr7:56242554-56242604	SK-N-MC	brain:	n/a
8	chr7:56242554-56242604	Jurkat	blood:	n/a
9	chr7:56242554-56242604	NHDF-neo	bronchial:	n/a
10	chr7:56242554-56242604	NT2-D1	testis:	n/a
11	chr7:56242554-56242604	H1-hESC	embryonic stem cell:	embryo
12	chr7:56242554-56242604	AoSMC	blood vessel:	n/a
13	chr7:56242554-56242604	HUVEC	blood vessel:	n/a
14	chr7:56242554-56242604	HRPEpiC	eye:	n/a
15	chr7:56242554-56242604	PFSK-1	brain:	n/a
16	chr7:56242554-56242604	HRE	kidney:	n/a
17	chr7:56242554-56242604	HCPEpiC	choroid plexus:	n/a
18	chr7:56242554-56242604	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:56242554-56242604	HEEpiC	esophagus:	n/a
20	chr7:56242554-56242604	GM12878	blood:	n/a
21	chr7:56242554-56242604	CMK	blood:	n/a
22	chr7:56242554-56242604	U87	brain:	n/a
23	chr7:56242554-56242604	BE2_C	brain:	n/a
24	chr7:56242554-56242604	HIPEpiC	eye:	n/a
25	chr7:56242554-56242604	SK-N-SH	brain:	n/a
26	chr7:56242554-56242604	K562	blood:	n/a
27	chr7:56242554-56242604	BJ	skin:	n/a
28	chr7:56242554-56242604	HepG2	liver:	n/a
29	chr7:56242554-56242604	GM06990	blood:	n/a
30	chr7:56242554-56242604	PrEC	prostate:	n/a
31	chr7:56242554-56242604	Caco-2	colon:	n/a
32	chr7:56242554-56242604	PANC-1	pancreas:	n/a
33	chr7:56242554-56242604	Hela-S3	cervix:	n/a
34	chr7:56242554-56242604	T-47D	breast:	n/a
35	chr7:56242554-56242604	LNCaP	prostate:	n/a
36	chr7:56242554-56242604	GM12892	blood:	n/a
37	chr7:56242554-56242604	Hepatocyte	liver:	n/a
38	chr7:56242554-56242604	ovcar-3	ovarian:	n/a
39	chr7:56242554-56242604	ProgFib	skin:	n/a
40	chr7:56242554-56242604	NB4	blood:	n/a
41	chr7:56242554-56242604	GM19239	blood:	n/a
42	chr7:56242554-56242604	IMR90	lung:	fetal
43	chr7:56242554-56242604	HAEpiC	amniotic membrane:	n/a
44	chr7:56242554-56242604	GM12891	blood:	n/a
45	chr7:56242554-56242604	HCT-116	colon:	n/a
46	chr7:56242554-56242604	ECC-1	luminal epithelium:	n/a
47	chr7:56242554-56242604	RPTEC	kidney:	n/a
48	chr7:56242554-56242604	SKMC	muscle:	n/a
49	chr7:56242554-56242604	HCM	heart:	n/a
50	chr7:56242554-56242604	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ENSG00000233028	TF binding region
ENSG00000233028	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1613797	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1640578	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1640580	0.80[ASN][1000 genomes]
rs2110260	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2430222	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2462381	0.86[AMR][1000 genomes]
rs2462386	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2697421	0.86[AMR][1000 genomes]
rs816396	0.85[AMR][1000 genomes]
rs816397	0.85[AMR][1000 genomes]
rs816398	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
5	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers 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	71 gene(s)	inside rSNPs	diseases
6	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv1015254	chr7:56190072-56334445	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1034763	chr7:56190072-56336627	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1026887	chr7:56191763-56330473	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv3368661	chr7:56201127-56591279	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv5756	chr7:56203664-56246844	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv508455	chr7:56212547-56257101	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3417738	chr7:56241108-56244206	Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56242000-56242600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
2	chr7:56242000-56243800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56242200-56243000	Enhancers	Pancreas	Pancrea
4	chr7:56242200-56243400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:56242200-56243400	ZNF genes & repeats	Lung	lung
6	chr7:56242200-56243600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:56242200-56244000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:56242400-56242600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:56242400-56242600	Enhancers	Ovary	ovary
10	chr7:56242400-56242800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr7:56242400-56242800	Flanking Active TSS	Right Ventricle	heart
12	chr7:56242400-56243000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
13	chr7:56242400-56243000	Active TSS	Right Atrium	heart
14	chr7:56242400-56243000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr7:56242400-56243200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:56242400-56243400	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr7:56242400-56243400	Active TSS	Gastric	stomach
18	chr7:56242400-56243600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:56242400-56243600	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:56242400-56243800	Active TSS	Aorta	Aorta
21	chr7:56242400-56243800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr7:56242400-56243800	ZNF genes & repeats	Spleen	Spleen
23	chr7:56242400-56244000	Active TSS	Colon Smooth Muscle	Colon
24	chr7:56242400-56244000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links