Variant report

Variant	rs57323934
Chromosome Location	chr7:4779331-4779332
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:4779240-4779390	A549	lung:	n/a	n/a
2	CBX3	chr7:4778254-4779547	K562	blood:	n/a	n/a
3	NR2F2	chr7:4777975-4779625	K562	blood:	n/a	n/a
4	GATA2	chr7:4778253-4779569	K562	blood:	n/a	chr7:4778995-4779004 chr7:4778995-4779002 chr7:4778556-4778566 chr7:4778994-4779004
5	POLR2A	chr7:4778095-4779564	K562	blood:	n/a	n/a
6	E2F6	chr7:4779185-4779440	K562	blood:	n/a	n/a
7	EP300	chr7:4778075-4779634	A549	lung:	n/a	chr7:4779475-4779482
8	ELF1	chr7:4779216-4779583	K562	blood:	n/a	n/a
9	HEY1	chr7:4779175-4779423	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:4778156-4779405	PANC-1	pancreas:	n/a	n/a
11	CTCF	chr7:4779250-4779487	K562	blood:	n/a	n/a
12	JUND	chr7:4778273-4779513	K562	blood:	n/a	chr7:4778550-4778560 chr7:4778550-4778560 chr7:4778556-4778565 chr7:4778549-4778560 chr7:4778550-4778560 chr7:4778551-4778559 chr7:4778549-4778561
13	ZNF143	chr7:4778455-4779494	K562	blood:	n/a	n/a
14	CTCF	chr7:4779280-4779430	HRE	kidney:	n/a	n/a
15	CTCF	chr7:4779284-4779436	A549	lung:	n/a	n/a
16	MBD4	chr7:4778949-4779453	HepG2	liver:	n/a	n/a
17	CTCF	chr7:4779220-4779370	GM12866	blood:	n/a	n/a
18	FOXA1	chr7:4778607-4779482	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:4779153-4779413	A549	lung:	n/a	n/a
20	YY1	chr7:4779098-4779512	K562	blood:	n/a	n/a
21	GATA2	chr7:4778231-4779679	SH-SY5Y	brain:	n/a	chr7:4778995-4779004 chr7:4778995-4779002 chr7:4778556-4778566 chr7:4778994-4779004
22	RAD21	chr7:4778302-4779539	A549	lung:	n/a	n/a
23	MAFF	chr7:4778395-4779376	HepG2	liver:	n/a	chr7:4779096-4779114 chr7:4779095-4779109
24	CTCF	chr7:4779315-4779427	GM12892	blood:	n/a	n/a
25	MAX	chr7:4778260-4779484	A549	lung:	n/a	n/a
26	CTCF	chr7:4779181-4779463	HepG2	liver:	n/a	n/a
27	TEAD4	chr7:4778639-4779434	HepG2	liver:	n/a	n/a
28	SMC3	chr7:4779009-4779475	HepG2	liver:	n/a	n/a
29	CTCF	chr7:4779320-4779470	RPTEC	kidney:	n/a	n/a
30	CTCF	chr7:4779220-4779370	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr7:4779300-4779450	GM12865	blood:	n/a	n/a
32	POLR2A	chr7:4778169-4779474	K562	blood:	n/a	n/a
33	CTCF	chr7:4779287-4779467	Pancreas_OC	pancreas:	n/a	n/a
34	MYBL2	chr7:4778302-4779437	HepG2	liver:	n/a	n/a
35	MXI1	chr7:4779046-4779445	HepG2	liver:	n/a	n/a
36	CTCF	chr7:4779280-4779430	SK-N-SH_RA	brain:	n/a	n/a
37	RAD21	chr7:4779120-4779534	HepG2	liver:	n/a	n/a
38	YY1	chr7:4779186-4779482	A549	lung:	n/a	n/a
39	CTCF	chr7:4779102-4779518	K562	blood:	n/a	n/a
40	RAD21	chr7:4779122-4779552	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr7:4779122-4779410	A549	lung:	n/a	n/a
42	ARID3A	chr7:4779230-4779447	HepG2	liver:	n/a	n/a
43	RCOR1	chr7:4779149-4779487	HepG2	liver:	n/a	n/a
44	TBP	chr7:4778299-4779481	HepG2	liver:	n/a	n/a
45	TAL1	chr7:4778294-4779425	K562	blood:	n/a	n/a
46	CTCF	chr7:4779260-4779410	HPAF	blood vessel:	n/a	n/a
47	HEY1	chr7:4779123-4779548	K562	blood:	n/a	n/a
48	TAF1	chr7:4779177-4779500	K562	blood:	n/a	n/a
49	UBTF	chr7:4778434-4779393	K562	blood:	n/a	n/a
50	MAFK	chr7:4778330-4779469	HepG2	liver:	n/a	chr7:4778549-4778558 chr7:4778549-4778559 chr7:4779092-4779112 chr7:4779097-4779112 chr7:4779095-4779109 chr7:4779094-4779110

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4779312-4779362	PANC-1	pancreas:	n/a
2	chr7:4779312-4779362	SAEC	small airway:	n/a
3	chr7:4779312-4779362	AG10803	skin:	n/a
4	chr7:4779312-4779362	HRCEpiC	kidney:	n/a
5	chr7:4779312-4779362	CMK	blood:	n/a
6	chr7:4779312-4779362	HCM	heart:	n/a
7	chr7:4779312-4779362	PrEC	prostate:	n/a
8	chr7:4779312-4779362	GM06990	blood:	n/a
9	chr7:4779312-4779362	HMEC	breast:	n/a
10	chr7:4779312-4779362	BJ	skin:	n/a
11	chr7:4779312-4779362	GM19239	blood:	n/a
12	chr7:4779312-4779362	GM12878	blood:	n/a
13	chr7:4779312-4779362	AG09319	gingival:	n/a
14	chr7:4779312-4779362	HL-60	blood:	n/a
15	chr7:4779312-4779362	AG04449	skin:	fetal
16	chr7:4779312-4779362	ECC-1	luminal epithelium:	n/a
17	chr7:4779312-4779362	IMR90	lung:	fetal
18	chr7:4779312-4779362	SK-N-SH_RA	brain:	n/a
19	chr7:4779312-4779362	HepG2	liver:	n/a
20	chr7:4779312-4779362	ovcar-3	ovarian:	n/a
21	chr7:4779312-4779362	NB4	blood:	n/a
22	chr7:4779312-4779362	H1-hESC	embryonic stem cell:	embryo
23	chr7:4779312-4779362	AoSMC	blood vessel:	n/a
24	chr7:4779312-4779362	RPTEC	kidney:	n/a
25	chr7:4779312-4779362	NT2-D1	testis:	n/a
26	chr7:4779312-4779362	SK-N-MC	brain:	n/a
27	chr7:4779312-4779362	Caco-2	colon:	n/a
28	chr7:4779312-4779362	MCF-7	breast:	n/a
29	chr7:4779312-4779362	HNPCEpiC	eye:	n/a
30	chr7:4779312-4779362	HEK293	kidney:	embryo
31	chr7:4779312-4779362	PFSK-1	brain:	n/a
32	chr7:4779312-4779362	LNCaP	prostate:	n/a
33	chr7:4779312-4779362	NHBE	bronchial:	n/a
34	chr7:4779312-4779362	HEEpiC	esophagus:	n/a
35	chr7:4779312-4779362	SK-N-SH	brain:	n/a
36	chr7:4779312-4779362	Hela-S3	cervix:	n/a
37	chr7:4779312-4779362	GM12891	blood:	n/a
38	chr7:4779312-4779362	Hepatocyte	liver:	n/a
39	chr7:4779312-4779362	ProgFib	skin:	n/a
40	chr7:4779312-4779362	T-47D	breast:	n/a
41	chr7:4779312-4779362	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:4779312-4779362	U87	brain:	n/a
43	chr7:4779312-4779362	HRPEpiC	eye:	n/a
44	chr7:4779312-4779362	AG04450	lung:	fetal
45	chr7:4779312-4779362	A549	lung:	n/a
46	chr7:4779312-4779362	SKMC	muscle:	n/a
47	chr7:4779312-4779362	AG09309	skin:	n/a
48	chr7:4779312-4779362	HCPEpiC	choroid plexus:	n/a
49	chr7:4779312-4779362	GM12892	blood:	n/a
50	chr7:4779312-4779362	Jurkat	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4778391..4781100-chr7:4828582..4831115,2	K562	blood:
2	chr7:4776650..4779516-chr7:4815210..4817284,2	MCF-7	breast:
3	chr7:4679860..4681544-chr7:4777354..4780296,2	K562	blood:
4	chr7:4777828..4782067-chr7:4812094..4815733,5	K562	blood:
5	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

No data

Variant related genes	Relation type
FOXK1	TF binding region
FOXK1	CpG island
ENSG00000164916	Chromatin interaction
ENSG00000242802	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11541132	1.00[AMR][1000 genomes]
rs56025211	1.00[AMR][1000 genomes]
rs60226766	1.00[AMR][1000 genomes]
rs60814186	1.00[AMR][1000 genomes]
rs61269946	1.00[AMR][1000 genomes]
rs6947096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303367	1.00[AMR][1000 genomes]
rs73303392	0.89[AFR][1000 genomes]
rs73305304	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305327	1.00[AMR][1000 genomes]
rs73305336	1.00[AMR][1000 genomes]
rs73305389	1.00[AMR][1000 genomes]
rs73305393	1.00[AMR][1000 genomes]
rs73310599	1.00[AMR][1000 genomes]
rs73312647	1.00[AMR][1000 genomes]
rs73316110	1.00[AMR][1000 genomes]
rs73318118	1.00[AMR][1000 genomes]
rs73318133	1.00[AMR][1000 genomes]
rs73318156	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4765600-4783200	Weak transcription	Fetal Brain Male	brain
2	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:4765800-4782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:4766000-4783600	Weak transcription	HMEC	breast
5	chr7:4768000-4781600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:4773400-4780200	Weak transcription	NHEK	skin
7	chr7:4774200-4780400	Weak transcription	Esophagus	oesophagus
8	chr7:4777800-4779800	Enhancers	Primary B cells from cord blood	blood
9	chr7:4777800-4779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:4777800-4780000	Enhancers	Fetal Thymus	thymus
11	chr7:4778000-4779400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:4778000-4779400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:4778000-4779600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:4778000-4779600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:4778000-4779600	Enhancers	HUVEC	blood vessel
16	chr7:4778000-4779600	Flanking Active TSS	K562	blood
17	chr7:4778000-4779800	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:4778000-4779800	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:4778200-4779400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr7:4778200-4779400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:4778200-4779400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:4778200-4779400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:4778200-4779400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:4778200-4779400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:4778200-4779400	Flanking Active TSS	Osteobl	bone
26	chr7:4778200-4779600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:4778200-4779600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:4778200-4779600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:4778200-4779600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:4778200-4779600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:4778200-4779600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:4778200-4779600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:4778200-4779600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr7:4778200-4779600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr7:4778200-4779600	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr7:4778200-4779600	Enhancers	Gastric	stomach
37	chr7:4778200-4779600	Enhancers	Lung	lung
38	chr7:4778200-4779600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr7:4778200-4779600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:4778200-4779600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:4778200-4779600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr7:4778200-4779600	Flanking Active TSS	A549	lung
43	chr7:4778200-4779600	Genic enhancers	Dnd41	blood
44	chr7:4778200-4779600	Flanking Active TSS	HepG2	liver
45	chr7:4778200-4779600	Flanking Active TSS	HSMM	muscle
46	chr7:4778200-4779600	Flanking Active TSS	HSMMtube	muscle
47	chr7:4778200-4779800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:4778200-4779800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:4778200-4779800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr7:4778200-4779800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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