Variant report

Variant	rs2291252
Chromosome Location	chr3:138662983-138662984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr3:138662706-138664404	K562	blood:	n/a	n/a
2	MAZ	chr3:138661821-138662997	K562	blood:	n/a	n/a
3	RCOR1	chr3:138662698-138664470	K562	blood:	n/a	n/a
4	EP300	chr3:138662509-138663158	K562	blood:	n/a	chr3:138662885-138662892
5	UBTF	chr3:138661738-138664476	K562	blood:	n/a	n/a
6	BHLHE40	chr3:138662779-138663033	K562	blood:	n/a	n/a
7	TBL1XR1	chr3:138662693-138663600	K562	blood:	n/a	n/a
8	POLR2A	chr3:138661830-138663655	H1-neurons	neurons:	n/a	n/a
9	CEBPB	chr3:138662777-138663030	K562	blood:	n/a	n/a
10	POLR2A	chr3:138662212-138663059	SK-N-SH	brain:	n/a	n/a
11	IRF1	chr3:138662590-138663777	K562	blood:	n/a	chr3:138662692-138662704
12	POLR2A	chr3:138662909-138664407	K562	blood:	n/a	n/a
13	CREB1	chr3:138662593-138663236	K562	blood:	n/a	n/a
14	MYC	chr3:138662705-138666843	K562	blood:	n/a	chr3:138666114-138666124
15	PML	chr3:138662668-138663153	K562	blood:	n/a	n/a
16	SP1	chr3:138662659-138663487	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr3:138662699-138664307	K562	blood:	n/a	n/a
18	STAT3	chr3:138662975-138663082	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr3:138662764-138664435	K562	blood:	n/a	n/a
20	HCFC1	chr3:138662741-138663102	K562	blood:	n/a	n/a
21	POLR2A	chr3:138661932-138664635	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr3:138662677-138663072	K562	blood:	n/a	n/a
23	CREB1	chr3:138662737-138663124	K562	blood:	n/a	n/a
24	ATF1	chr3:138662703-138663024	K562	blood:	n/a	n/a
25	SUZ12	chr3:138662343-138670118	NT2-D1	testis:	n/a	n/a
26	JUND	chr3:138662709-138663320	K562	blood:	n/a	chr3:138662975-138662987
27	MAX	chr3:138662735-138663003	K562	blood:	n/a	n/a
28	POLR2A	chr3:138662700-138663506	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138662940-138662990	AG09319	gingival:	n/a
2	chr3:138662940-138662990	ECC-1	luminal epithelium:	n/a
3	chr3:138662940-138662990	SK-N-MC	brain:	n/a
4	chr3:138662940-138662990	H1-hESC	embryonic stem cell:	embryo
5	chr3:138662940-138662990	AG09309	skin:	n/a
6	chr3:138662940-138662990	K562	blood:	n/a
7	chr3:138662940-138662990	HCT-116	colon:	n/a
8	chr3:138662940-138662990	HUVEC	blood vessel:	n/a
9	chr3:138662940-138662990	MCF10A-Er-Src	breast:	n/a
10	chr3:138662940-138662990	GM12878	blood:	n/a
11	chr3:138662940-138662990	U87	brain:	n/a
12	chr3:138662940-138662990	HCF	heart:	n/a
13	chr3:138662940-138662990	HepG2	liver:	n/a
14	chr3:138662940-138662990	SAEC	small airway:	n/a
15	chr3:138662940-138662990	HL-60	blood:	n/a
16	chr3:138662940-138662990	PFSK-1	brain:	n/a
17	chr3:138662940-138662990	HCM	heart:	n/a
18	chr3:138662940-138662990	PrEC	prostate:	n/a
19	chr3:138662940-138662990	HRE	kidney:	n/a
20	chr3:138662940-138662990	Jurkat	blood:	n/a
21	chr3:138662940-138662990	SKMC	muscle:	n/a
22	chr3:138662940-138662990	AG10803	skin:	n/a
23	chr3:138662940-138662990	Hela-S3	cervix:	n/a
24	chr3:138662940-138662990	HNPCEpiC	eye:	n/a
25	chr3:138662940-138662990	ProgFib	skin:	n/a
26	chr3:138662940-138662990	HRCEpiC	kidney:	n/a
27	chr3:138662940-138662990	AoSMC	blood vessel:	n/a
28	chr3:138662940-138662990	HIPEpiC	eye:	n/a
29	chr3:138662940-138662990	GM06990	blood:	n/a
30	chr3:138662940-138662990	MCF-7	breast:	n/a
31	chr3:138662940-138662990	HEK293	kidney:	embryo
32	chr3:138662940-138662990	Hepatocyte	liver:	n/a
33	chr3:138662940-138662990	BE2_C	brain:	n/a
34	chr3:138662940-138662990	HMEC	breast:	n/a
35	chr3:138662940-138662990	CMK	blood:	n/a
36	chr3:138662940-138662990	HRPEpiC	eye:	n/a
37	chr3:138662940-138662990	RPTEC	kidney:	n/a
38	chr3:138662940-138662990	ovcar-3	ovarian:	n/a
39	chr3:138662940-138662990	SK-N-SH	brain:	n/a
40	chr3:138662940-138662990	PANC-1	pancreas:	n/a
41	chr3:138662940-138662990	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:138662940-138662990	NHDF-neo	bronchial:	n/a
43	chr3:138662940-138662990	Caco-2	colon:	n/a
44	chr3:138662940-138662990	BJ	skin:	n/a
45	chr3:138662940-138662990	AG04450	lung:	fetal
46	chr3:138662940-138662990	LNCaP	prostate:	n/a
47	chr3:138662940-138662990	NB4	blood:	n/a
48	chr3:138662940-138662990	NT2-D1	testis:	n/a
49	chr3:138662940-138662990	A549	lung:	n/a
50	chr3:138662940-138662990	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138662930..138665142-chr3:139048462..139050899,2	K562	blood:
2	chr3:138661376..138665068-chr3:139062620..139064700,3	K562	blood:

No data

Variant related genes	Relation type
C3orf72	TF binding region
ENSG00000244578	TF binding region
C3orf72	CpG island
ENSG00000244578	CpG island
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12630172	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1482976	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57383887	1.00[EUR][1000 genomes]
rs59540955	1.00[EUR][1000 genomes]
rs72976914	1.00[EUR][1000 genomes]
rs72976918	1.00[EUR][1000 genomes]
rs750321	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138661400-138663200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:138661600-138663000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
3	chr3:138661800-138663800	Active TSS	Ovary	ovary
4	chr3:138662000-138663200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr3:138662000-138663800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr3:138662000-138664000	Active TSS	K562	blood
7	chr3:138662200-138663000	Bivalent Enhancer	Brain Anterior Caudate	brain
8	chr3:138662200-138663200	Weak transcription	Right Atrium	heart
9	chr3:138662200-138663600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:138662200-138664000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:138662400-138663000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr3:138662400-138663200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr3:138662400-138663600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr3:138662400-138663800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:138662400-138663800	Weak transcription	Pancreas	Pancrea
16	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:138662600-138663000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:138662600-138663000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr3:138662600-138663000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr3:138662600-138663000	Enhancers	A549	lung
21	chr3:138662600-138663600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr3:138662600-138663800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr3:138662800-138663000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr3:138662800-138663000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:138662800-138663000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr3:138662800-138663000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
27	chr3:138662800-138663000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr3:138662800-138663000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr3:138662800-138663000	Flanking Active TSS	Hela-S3	cervix
30	chr3:138662800-138663000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr3:138662800-138663200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr3:138662800-138663200	Bivalent Enhancer	Primary T cells from cord blood	blood
33	chr3:138662800-138663200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr3:138662800-138663200	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr3:138662800-138663400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:138662800-138663600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr3:138662800-138663800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr3:138662800-138663800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:138662800-138663800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr3:138662800-138663800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr3:138662800-138663800	Bivalent/Poised TSS	Right Ventricle	heart
42	chr3:138662800-138663800	Active TSS	NHDF-Ad	bronchial
43	chr3:138662800-138664000	Enhancers	Lung	lung
44	chr3:138662800-138664200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:138662800-138666600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links