Variant report

Variant	rs7457868
Chromosome Location	chr7:100227188-100227189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 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	chr7:100227045-100227223	Fibrobl	skin:	n/a	n/a
2	CTCF	chr7:100227040-100227190	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr7:100227038-100227213	GM10266	blood:	n/a	n/a
4	HCFC1	chr7:100227053-100227228	K562	blood:	n/a	n/a
5	RUNX3	chr7:100226958-100227293	GM12878	blood:	n/a	n/a
6	CTCF	chr7:100227003-100227217	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr7:100227060-100227210	HMEC	breast:	n/a	n/a
8	CTCF	chr7:100227100-100227250	HAc	cerebellar:	n/a	n/a
9	CTCF	chr7:100227040-100227190	K562	blood:	n/a	n/a
10	CTCF	chr7:100227060-100227210	HepG2	liver:	n/a	n/a
11	CTCF	chr7:100226786-100227490	A549	lung:	n/a	n/a
12	CTCF	chr7:100227080-100227230	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr7:100226984-100227282	K562	blood:	n/a	n/a
14	MYC	chr7:100227093-100227206	K562	blood:	n/a	n/a
15	CTCF	chr7:100227060-100227210	HMF	breast:	n/a	n/a
16	CTCF	chr7:100227140-100227290	GM12868	blood:	n/a	n/a
17	CTCF	chr7:100226943-100227281	A549	lung:	n/a	n/a
18	CTCF	chr7:100227005-100227254	MCF-7	breast:	n/a	n/a
19	RAD21	chr7:100226915-100227345	MCF-7	breast:	n/a	n/a
20	JUND	chr7:100227071-100227227	K562	blood:	n/a	n/a
21	CTCF	chr7:100227080-100227230	GM12871	blood:	n/a	n/a
22	MYC	chr7:100226993-100227263	K562	blood:	n/a	n/a
23	CTCF	chr7:100227040-100227190	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr7:100227034-100227226	GM10248	blood:	n/a	n/a
25	CTCF	chr7:100226755-100227438	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr7:100227060-100227210	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr7:100227060-100227210	HCPEpiC	choroid plexus:	n/a	n/a
28	CBX3	chr7:100226940-100227309	K562	blood:	n/a	n/a
29	CTCF	chr7:100227060-100227210	A549	lung:	n/a	n/a
30	CTCF	chr7:100227060-100227210	MCF-7	breast:	n/a	n/a
31	YY1	chr7:100226978-100227241	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr7:100226964-100227218	HepG2	liver:	n/a	n/a
33	CTCF	chr7:100227044-100227242	GM13977	blood:	n/a	n/a
34	CTCF	chr7:100227060-100227210	AG09319	gingival:	n/a	n/a
35	RAD21	chr7:100226932-100227307	A549	lung:	n/a	n/a
36	CTCF	chr7:100227044-100227258	T-47D	breast:	n/a	n/a
37	ELF1	chr7:100226819-100227379	GM12878	blood:	n/a	n/a
38	MAX	chr7:100226965-100227305	K562	blood:	n/a	n/a
39	CTCF	chr7:100227040-100227221	GM13976	blood:	n/a	n/a
40	RAD21	chr7:100226957-100227318	HepG2	liver:	n/a	n/a
41	CTCF	chr7:100227060-100227210	GM12873	blood:	n/a	n/a
42	CTCF	chr7:100227080-100227230	GM12864	blood:	n/a	n/a
43	CTCF	chr7:100227040-100227190	Caco-2	colon:	n/a	n/a
44	CTCF	chr7:100227060-100227210	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr7:100227011-100227251	MCF-7	breast:	n/a	n/a
46	MYC	chr7:100227113-100227193	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:100227060-100227210	Caco-2	colon:	n/a	n/a
48	RAD21	chr7:100226816-100227285	MCF-7	breast:	n/a	n/a
49	CTCF	chr7:100226994-100227252	GM12892	blood:	n/a	n/a
50	CTCF	chr7:100227080-100227230	GM12872	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100225566..100227350-chr7:100272273..100274722,2	MCF-7	breast:
2	chr7:100226702..100228468-chr7:100230011..100232734,2	MCF-7	breast:
3	chr7:100209659..100211246-chr7:100224414..100227276,2	MCF-7	breast:
4	chr7:100224003..100228660-chr7:100236463..100240188,8	K562	blood:
5	chr7:100161531..100162128-chr7:100226667..100227635,2	MCF-7	breast:
6	chr7:100218425..100220265-chr7:100225859..100228241,2	K562	blood:
7	chr7:100224387..100228494-chr7:100301872..100304625,4	MCF-7	breast:
8	chr7:100221959..100226920-chr7:100226941..100232803,10	K562	blood:
9	chr7:100226648..100227602-chr7:100289014..100289976,5	MCF-7	breast:
10	chr7:100222858..100232262-chr7:100269297..100275934,19	MCF-7	breast:
11	chr7:100025944..100028213-chr7:100226993..100230048,3	K562	blood:
12	chr7:100226628..100227548-chr7:100288949..100289693,4	K562	blood:
13	chr7:100222704..100226086-chr7:100226785..100232803,8	K562	blood:
14	chr7:100223071..100228603-chr7:100236890..100242224,6	K562	blood:

No data

Variant related genes	Relation type
TFR2	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10247962	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052897	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12673102	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1734907	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs221770	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs221774	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs221780	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs221784	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs221786	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs221789	0.80[CEU][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs221794	0.86[CEU][hapmap]
rs221797	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs221803	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3757859	0.93[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4727457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4729596	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4729598	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4729600	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4988606	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs506597	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs564449	1.00[JPT][hapmap]
rs6975957	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
3	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
4	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
9	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7457868	TFR2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100211400-100230400	Weak transcription	Pancreas	Pancrea
2	chr7:100221600-100227200	Genic enhancers	Liver	Liver
3	chr7:100222200-100229600	Weak transcription	Hela-S3	cervix
4	chr7:100224800-100229600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:100224800-100230400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:100224800-100230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:100224800-100230400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:100224800-100230600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:100224800-100230600	Weak transcription	Gastric	stomach
10	chr7:100224800-100230600	Weak transcription	Right Atrium	heart
11	chr7:100224800-100230600	Weak transcription	Small Intestine	intestine
12	chr7:100225000-100229200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:100225000-100230400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:100225000-100230400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:100225000-100230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:100225000-100230400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:100225000-100230400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:100225000-100230400	Weak transcription	Spleen	Spleen
19	chr7:100225000-100230600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:100225000-100230600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:100225200-100229400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:100225200-100229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:100225200-100230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:100225200-100230400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:100225200-100230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:100225200-100230400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:100225200-100230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:100225200-100230400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:100225200-100230600	Weak transcription	Esophagus	oesophagus
30	chr7:100225200-100234200	Strong transcription	K562	blood
31	chr7:100225400-100230400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:100225400-100230400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:100225400-100230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:100225600-100227800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:100225600-100230200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:100225600-100230400	Weak transcription	Primary T cells from cord blood	blood
37	chr7:100225600-100230400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:100225600-100230400	Weak transcription	Brain Germinal Matrix	brain
39	chr7:100225600-100230400	Weak transcription	Fetal Intestine Small	intestine
40	chr7:100225800-100230600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:100225800-100230600	Weak transcription	GM12878-XiMat	blood
42	chr7:100226000-100230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:100226600-100227200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr7:100226600-100227200	Strong transcription	HepG2	liver
45	chr7:100226800-100227200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:100226800-100228000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:100227000-100228000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:100227000-100228400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:100227000-100229400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:100227000-100229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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