Variant report

Variant	rs34761081
Chromosome Location	chr7:100933521-100933522
allele	C/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	chr7:100933380-100933530	RPTEC	kidney:	n/a	n/a
2	CTCF	chr7:100933380-100933530	GM12868	blood:	n/a	n/a
3	CTCF	chr7:100933512-100933666	GM10266	blood:	n/a	n/a
4	CTCF	chr7:100933445-100934428	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:100932276-100934140	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr7:100933512-100934199	K562	blood:	n/a	n/a
7	CTCF	chr7:100933380-100933530	HAc	cerebellar:	n/a	n/a
8	SP1	chr7:100932917-100933528	HepG2	liver:	n/a	n/a
9	RAD21	chr7:100933490-100934318	SK-N-SH	brain:	n/a	n/a
10	POU2F2	chr7:100932961-100933881	GM12878	blood:	n/a	chr7:100933232-100933241 chr7:100933230-100933243 chr7:100933229-100933243 chr7:100933232-100933242 chr7:100933227-100933245 chr7:100933231-100933243 chr7:100933230-100933241 chr7:100933232-100933242 chr7:100933231-100933241 chr7:100933230-100933241 chr7:100933232-100933240 chr7:100933229-100933244 chr7:100933233-100933240 chr7:100933225-100933246 chr7:100933232-100933245

No.	Distal block	Cell Line	Cell type
1	chr7:100933432..100934555-chr7:101150641..101151287,4	MCF-7	breast:
2	chr7:100886578..100888503-chr7:100932125..100933912,2	MCF-7	breast:
3	chr7:99577726..99579955-chr7:100932141..100934760,2	MCF-7	breast:
4	chr7:100933411..100934409-chr7:101150803..101151635,3	K562	blood:

Variant related genes	Relation type
AZGP1P2	TF binding region
ENSG00000214253	Chromatin interaction
ENSG00000214313	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11544858	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11978776	1.00[ASN][1000 genomes]
rs13223799	0.83[EUR][1000 genomes]
rs13225720	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13234919	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13235206	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13236755	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13236818	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13237170	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13240188	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13240202	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13241096	0.82[EUR][1000 genomes]
rs13241519	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13241528	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13243964	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2410815	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2410818	0.86[EUR][1000 genomes]
rs34048830	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34077348	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34169259	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34170365	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34306578	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34331244	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34434188	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34522084	0.85[EUR][1000 genomes]
rs34530598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34532455	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34541954	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34579827	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34679185	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34714336	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34872936	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35259540	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35401614	0.86[EUR][1000 genomes]
rs35427616	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35594069	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35614350	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35642062	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35653054	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35710113	0.80[EUR][1000 genomes]
rs35724850	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35751380	0.88[EUR][1000 genomes]
rs35757856	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35785259	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35811165	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35835570	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36005187	0.82[EUR][1000 genomes]
rs36060097	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56730418	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58218376	1.00[ASN][1000 genomes]
rs60697114	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66621600	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66711003	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67002599	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67502950	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67736913	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67922522	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67927345	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs68015521	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71126395	1.00[ASN][1000 genomes]
rs71540926	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71557300	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71557302	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71559403	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71559404	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71559406	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73410736	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7781222	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7791799	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs868145	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9691191	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9692578	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	63 gene(s)	inside rSNPs	diseases
4	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1023393	chr7:100904333-101102046	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv981560	chr7:100929810-100935291	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv2752135	chr7:100932330-101135565	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34761081	RP11-132A1.4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100919600-100935200	Weak transcription	Right Atrium	heart
2	chr7:100930800-100933600	Weak transcription	Dnd41	blood
3	chr7:100932400-100933600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:100932400-100933800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:100932400-100934200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:100932400-100934200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:100932400-100935600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:100932800-100933600	Enhancers	GM12878-XiMat	blood
9	chr7:100932800-100933800	Flanking Active TSS	HepG2	liver
10	chr7:100932800-100934000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:100932800-100934200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:100932800-100934200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:100932800-100934200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:100932800-100934200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:100933000-100933800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr7:100933000-100934000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:100933000-100934200	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:100933000-100934600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:100933200-100933600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:100933200-100933600	Enhancers	Liver	Liver
21	chr7:100933200-100934200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:100933400-100933600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:100933400-100933800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:100933400-100934200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:100933400-100934200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links