Variant report

Variant	rs7289139
Chromosome Location	chr22:34319940-34319941
allele	G/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	CTCF	chr22:34319786-34319985	GM12892	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
2	RAD21	chr22:34319605-34319999	MCF-7	breast:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
3	SPI1	chr22:34319786-34319952	K562	blood:	n/a	chr22:34319876-34319883 chr22:34319875-34319884
4	CTCF	chr22:34319820-34319970	GM12872	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
5	CTCF	chr22:34319756-34319975	HepG2	liver:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
6	CTCF	chr22:34319800-34319950	K562	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
7	CTCF	chr22:34319720-34319998	GM12878	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
8	SMC3	chr22:34319632-34320033	GM12878	blood:	n/a	chr22:34319847-34319861
9	CTCF	chr22:34319762-34319974	ProgFib	skin:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
10	CTCF	chr22:34319717-34319980	A549	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
11	CTCF	chr22:34319668-34320070	A549	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
12	SPI1	chr22:34319786-34319997	HL-60	blood:	n/a	chr22:34319876-34319883 chr22:34319875-34319884
13	CTCF	chr22:34319820-34319970	HAc	cerebellar:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
14	RUNX3	chr22:34319643-34319948	GM12878	blood:	n/a	n/a
15	CTCF	chr22:34319800-34319950	SK-N-SH_RA	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
16	MAFK	chr22:34319854-34320036	HepG2	liver:	n/a	n/a
17	SIN3A	chr22:34316642-34319989	H1-hESC	embryonic stem cell:	n/a	chr22:34318427-34318436 chr22:34316794-34316805 chr22:34317994-34318003
18	CTCF	chr22:34319790-34319973	GM19238	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
19	CTCF	chr22:34319800-34319950	AG04449	skin:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
20	CTCF	chr22:34319729-34319966	K562	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
21	SPI1	chr22:34319702-34320058	GM12891	blood:	n/a	chr22:34319876-34319883 chr22:34319875-34319884
22	CTCF	chr22:34319800-34319950	NHEK	skin:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
23	CTCF	chr22:34319779-34319987	NHEK	skin:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
24	CTCF	chr22:34319417-34320070	IMR90	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
25	SPI1	chr22:34319786-34320010	GM12878	blood:	n/a	chr22:34319876-34319883 chr22:34319875-34319884
26	CTCF	chr22:34319671-34319959	SK-N-SH_RA	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
27	CTCF	chr22:34319800-34319950	GM12865	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
28	SMC3	chr22:34319693-34320034	K562	blood:	n/a	chr22:34319847-34319861
29	ZNF143	chr22:34319676-34320022	GM12878	blood:	n/a	n/a
30	CTCF	chr22:34319632-34319947	T-47D	breast:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
31	RAD21	chr22:34319721-34319951	SK-N-SH_RA	brain:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
32	CTCF	chr22:34319820-34319970	HEK293	kidney:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
33	RAD21	chr22:34319676-34320087	H1-hESC	embryonic stem cell:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
34	CTCF	chr22:34319800-34319950	SAEC	small airway:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
35	RAD21	chr22:34319630-34320101	A549	lung:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
36	CTCF	chr22:34319820-34319970	HMF	breast:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
37	RAD21	chr22:34319701-34320085	A549	lung:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
38	CTCF	chr22:34319772-34320009	GM19240	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
39	CTCF	chr22:34319336-34320112	SK-N-SH	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
40	RAD21	chr22:34319714-34320034	Hela-S3	cervix:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
41	CTCF	chr22:34319800-34319950	HCM	heart:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
42	RAD21	chr22:34319651-34320078	H1-hESC	embryonic stem cell:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
43	CTCF	chr22:34319741-34319988	MCF-7	breast:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
44	RAD21	chr22:34319685-34320059	HepG2	liver:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
45	CTCF	chr22:34319803-34319952	GM19239	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
46	CTCF	chr22:34319800-34319950	GM12869	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
47	CTCF	chr22:34319800-34319950	GM12864	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
48	CTCF	chr22:34319860-34320010	WI-38	lung:	n/a	n/a
49	CTCF	chr22:34319800-34319950	BE2_C	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
50	CTCF	chr22:34319695-34320002	HepG2	liver:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:34319904-34319954	HRCEpiC	kidney:	n/a
2	chr22:34319904-34319954	GM12892	blood:	n/a
3	chr22:34319904-34319954	SKMC	muscle:	n/a
4	chr22:34319904-34319954	GM06990	blood:	n/a
5	chr22:34319904-34319954	ProgFib	skin:	n/a
6	chr22:34319904-34319954	HIPEpiC	eye:	n/a
7	chr22:34319904-34319954	SK-N-SH_RA	brain:	n/a
8	chr22:34319904-34319954	GM12891	blood:	n/a
9	chr22:34319904-34319954	LNCaP	prostate:	n/a
10	chr22:34319904-34319954	AG04450	lung:	fetal
11	chr22:34319904-34319954	NHBE	bronchial:	n/a
12	chr22:34319904-34319954	GM19239	blood:	n/a
13	chr22:34319904-34319954	Hela-S3	cervix:	n/a
14	chr22:34319904-34319954	Hepatocyte	liver:	n/a
15	chr22:34319904-34319954	PFSK-1	brain:	n/a
16	chr22:34319904-34319954	BE2_C	brain:	n/a
17	chr22:34319904-34319954	HCM	heart:	n/a
18	chr22:34319904-34319954	NHDF-neo	bronchial:	n/a
19	chr22:34319904-34319954	SK-N-MC	brain:	n/a
20	chr22:34319904-34319954	CMK	blood:	n/a
21	chr22:34319904-34319954	ovcar-3	ovarian:	n/a
22	chr22:34319904-34319954	HMEC	breast:	n/a
23	chr22:34319904-34319954	HAEpiC	amniotic membrane:	n/a
24	chr22:34319904-34319954	PANC-1	pancreas:	n/a
25	chr22:34319904-34319954	NH-A	brain:	n/a
26	chr22:34319904-34319954	BJ	skin:	n/a
27	chr22:34319904-34319954	AG10803	skin:	n/a
28	chr22:34319904-34319954	K562	blood:	n/a
29	chr22:34319904-34319954	HL-60	blood:	n/a
30	chr22:34319904-34319954	HCT-116	colon:	n/a
31	chr22:34319904-34319954	ECC-1	luminal epithelium:	n/a
32	chr22:34319904-34319954	HUVEC	blood vessel:	n/a
33	chr22:34319904-34319954	H1-hESC	embryonic stem cell:	embryo
34	chr22:34319904-34319954	HNPCEpiC	eye:	n/a
35	chr22:34319904-34319954	HPAEpiC	pulmonary alveolar:	n/a
36	chr22:34319904-34319954	U87	brain:	n/a
37	chr22:34319904-34319954	Jurkat	blood:	n/a
38	chr22:34319904-34319954	NT2-D1	testis:	n/a
39	chr22:34319904-34319954	AG09319	gingival:	n/a
40	chr22:34319904-34319954	HCPEpiC	choroid plexus:	n/a
41	chr22:34319904-34319954	HEK293	kidney:	embryo
42	chr22:34319904-34319954	SK-N-SH	brain:	n/a
43	chr22:34319904-34319954	PrEC	prostate:	n/a
44	chr22:34319904-34319954	IMR90	lung:	fetal
45	chr22:34319904-34319954	AoSMC	blood vessel:	n/a
46	chr22:34319904-34319954	RPTEC	kidney:	n/a
47	chr22:34319904-34319954	MCF-7	breast:	n/a
48	chr22:34319904-34319954	AG09309	skin:	n/a
49	chr22:34319904-34319954	HCF	heart:	n/a
50	chr22:34319904-34319954	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:34319321..34320710-chr22:34415195..34416586,9	MCF-7	breast:
2	chr22:34319140..34320261-chr22:34501294..34502117,5	MCF-7	breast:
3	chr22:34314379..34318265-chr22:34319808..34323706,4	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region
LARGE	CpG island
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2267322	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4140659	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7288136	1.00[ASN][1000 genomes]
rs73154568	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34316000-34320000	Active TSS	Ovary	ovary
2	chr22:34319000-34320000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr22:34319000-34320200	Enhancers	Left Ventricle	heart
4	chr22:34319000-34320200	Bivalent Enhancer	HepG2	liver
5	chr22:34319200-34320000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:34319400-34320000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:34319400-34320000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr22:34319400-34320200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr22:34319400-34320200	Active TSS	Brain Angular Gyrus	brain
10	chr22:34319600-34320000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr22:34319600-34320200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:34319600-34320200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:34319600-34320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:34319800-34320000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:34319800-34320000	Enhancers	Fetal Brain Male	brain
16	chr22:34319800-34320200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:34319800-34320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:34319800-34320600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr22:34319800-34320600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:34319800-34320800	Enhancers	Liver	Liver
21	chr22:34319800-34321400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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