Variant report

Variant	rs2247447
Chromosome Location	chr7:100427130-100427131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100426855-100427374	HUVEC	blood vessel:	n/a	n/a
2	MYC	chr7:100427020-100427211	K562	blood:	n/a	n/a
3	RCOR1	chr7:100426390-100427293	K562	blood:	n/a	n/a
4	GABPA	chr7:100426832-100427215	K562	blood:	n/a	n/a
5	HDAC2	chr7:100426807-100427237	K562	blood:	n/a	n/a
6	POLR2A	chr7:100426835-100427377	K562	blood:	n/a	n/a
7	FOS	chr7:100426900-100427305	HUVEC	blood vessel:	n/a	n/a
8	ETS1	chr7:100426866-100427265	K562	blood:	n/a	chr7:100427136-100427149
9	GTF2F1	chr7:100426919-100427183	K562	blood:	n/a	n/a
10	MYC	chr7:100426936-100427164	K562	blood:	n/a	n/a
11	TEAD4	chr7:100426800-100427381	K562	blood:	n/a	n/a
12	TBP	chr7:100426731-100427228	K562	blood:	n/a	n/a
13	REST	chr7:100426819-100427322	K562	blood:	n/a	n/a
14	GATA1	chr7:100426733-100427495	K562	blood:	n/a	chr7:100427058-100427075
15	TAF1	chr7:100426904-100427230	K562	blood:	n/a	n/a
16	GATA2	chr7:100426862-100427263	K562	blood:	n/a	chr7:100427058-100427075
17	HMGN3	chr7:100426882-100427269	K562	blood:	n/a	n/a
18	PML	chr7:100426907-100427195	K562	blood:	n/a	n/a
19	CEBPB	chr7:100426910-100427191	K562	blood:	n/a	n/a
20	EP300	chr7:100426255-100427347	K562	blood:	n/a	chr7:100426286-100426295
21	IRF1	chr7:100426853-100427239	K562	blood:	n/a	n/a
22	TEAD4	chr7:100426743-100427382	K562	blood:	n/a	n/a
23	MAZ	chr7:100426896-100427289	K562	blood:	n/a	n/a
24	POLR2A	chr7:100426827-100427287	K562	blood:	n/a	n/a
25	TAL1	chr7:100426776-100427322	K562	blood:	n/a	chr7:100427057-100427075
26	GATA2	chr7:100426796-100427308	K562	blood:	n/a	chr7:100427058-100427075
27	CCNT2	chr7:100426897-100427297	K562	blood:	n/a	n/a
28	STAT5A	chr7:100426762-100427277	K562	blood:	n/a	chr7:100427218-100427230 chr7:100427087-100427099
29	POLR2A	chr7:100426806-100427415	HUVEC	blood vessel:	n/a	n/a
30	UBTF	chr7:100426762-100427345	K562	blood:	n/a	n/a
31	EGR1	chr7:100426827-100427233	K562	blood:	n/a	n/a
32	GATA2	chr7:100426867-100427352	HUVEC	blood vessel:	n/a	chr7:100427058-100427075
33	TAF1	chr7:100426826-100427204	K562	blood:	n/a	n/a
34	POLR2A	chr7:100426810-100427326	K562	blood:	n/a	n/a
35	CEBPD	chr7:100426765-100427347	K562	blood:	n/a	n/a
36	TBL1XR1	chr7:100426863-100427251	K562	blood:	n/a	n/a
37	GATA1	chr7:100426893-100427231	K562	blood:	n/a	chr7:100427058-100427075
38	PML	chr7:100426783-100427332	K562	blood:	n/a	n/a
39	IRF1	chr7:100426921-100427226	K562	blood:	n/a	n/a
40	ELF1	chr7:100426882-100427354	K562	blood:	n/a	n/a
41	E2F6	chr7:100427016-100427236	K562	blood:	n/a	n/a
42	HDAC2	chr7:100426814-100427312	K562	blood:	n/a	n/a
43	YY1	chr7:100426807-100427234	K562	blood:	n/a	n/a
44	POLR2A	chr7:100426817-100427374	HUVEC	blood vessel:	n/a	n/a
45	STAT5A	chr7:100426827-100427267	K562	blood:	n/a	chr7:100427218-100427230 chr7:100427087-100427099
46	YY1	chr7:100426834-100427187	K562	blood:	n/a	n/a
47	REST	chr7:100426839-100427275	K562	blood:	n/a	n/a
48	CHD2	chr7:100426960-100427245	K562	blood:	n/a	n/a
49	ETS1	chr7:100426904-100427281	K562	blood:	n/a	chr7:100427136-100427149
50	UBTF	chr7:100426860-100427264	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100425445..100427592-chr7:100461568..100464406,2	MCF-7	breast:
2	chr7:100427087..100431759-chr7:100432300..100436126,8	K562	blood:
3	chr7:100425740..100428117-chr7:100484984..100487072,2	K562	blood:
4	chr7:100427050..100428595-chr7:100433038..100435319,2	MCF-7	breast:
5	chr7:100425738..100428117-chr7:100484984..100487781,2	K562	blood:
6	chr7:100423559..100425818-chr7:100426663..100428171,2	MCF-7	breast:
7	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:

No data

Variant related genes	Relation type
EPHB4	TF binding region
ENSG00000176125	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000196411	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12531740	0.94[ASN][1000 genomes]
rs12537212	0.95[ASN][1000 genomes]
rs12670773	0.91[ASN][1000 genomes]
rs2247445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250818	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553020	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2553022	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2571606	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571608	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571609	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2720396	0.93[EUR][1000 genomes]
rs314319	0.88[ASN][1000 genomes]
rs3847061	0.82[ASN][1000 genomes]
rs3857809	0.96[ASN][1000 genomes]
rs3890144	0.91[ASN][1000 genomes]
rs60224425	0.89[ASN][1000 genomes]
rs60291880	0.88[ASN][1000 genomes]
rs73413159	0.91[ASN][1000 genomes]
rs7785074	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
12	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
15	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100422800-100427200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:100423400-100427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:100423600-100427200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:100423600-100427400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:100425400-100427200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:100425600-100427400	Enhancers	Lung	lung
7	chr7:100426000-100427400	Enhancers	Pancreas	Pancrea
8	chr7:100426000-100429000	Enhancers	Liver	Liver
9	chr7:100426000-100429400	Weak transcription	A549	lung
10	chr7:100426000-100429800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:100426200-100427400	Enhancers	Fetal Heart	heart
12	chr7:100426400-100427200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:100426400-100427200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:100426400-100427200	Enhancers	Ovary	ovary
15	chr7:100426400-100427400	Flanking Active TSS	K562	blood
16	chr7:100426400-100429400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:100426400-100433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:100426400-100433400	Weak transcription	Gastric	stomach
19	chr7:100426400-100433800	Weak transcription	Right Atrium	heart
20	chr7:100426600-100427200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:100426600-100427200	Enhancers	Fetal Lung	lung
22	chr7:100426600-100427200	Enhancers	Placenta	Placenta
23	chr7:100426600-100427200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr7:100426600-100427200	Enhancers	Right Ventricle	heart
25	chr7:100426600-100427400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:100426600-100427400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:100426600-100427400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:100426600-100427400	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:100426600-100427400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr7:100426600-100427400	Enhancers	Left Ventricle	heart
31	chr7:100426600-100427600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:100426600-100428400	Enhancers	HUVEC	blood vessel
33	chr7:100426600-100431600	Weak transcription	Spleen	Spleen
34	chr7:100426600-100433400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:100426600-100433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:100426600-100433400	Weak transcription	Fetal Kidney	kidney
37	chr7:100426800-100427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:100426800-100427200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:100426800-100427200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:100426800-100427200	Flanking Active TSS	HepG2	liver
41	chr7:100426800-100428200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:100427000-100427200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:100427000-100427200	Weak transcription	Fetal Intestine Small	intestine
44	chr7:100427000-100427200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr7:100427000-100427400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:100427000-100427400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:100427000-100428600	Weak transcription	Fetal Intestine Large	intestine
48	chr7:100427000-100433200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:100427000-100433400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:100427000-100433400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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