Variant report

Variant	rs7119304
Chromosome Location	chr11:71326297-71326298
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF217	chr11:71326146-71326637	MCF-7	breast:	n/a	n/a
2	GATA3	chr11:71326090-71326362	T-47D	breast:	n/a	n/a
3	TCF7L2	chr11:71326247-71326420	MCF-7	breast:	n/a	chr11:71326358-71326372
4	GATA3	chr11:71326082-71326353	T-47D	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71326282-71326332	GM19239	blood:	n/a
2	chr11:71326282-71326332	PANC-1	pancreas:	n/a
3	chr11:71326282-71326332	SKMC	muscle:	n/a
4	chr11:71326282-71326332	AG09319	gingival:	n/a
5	chr11:71326282-71326332	HL-60	blood:	n/a
6	chr11:71326282-71326332	HRE	kidney:	n/a
7	chr11:71326282-71326332	HCM	heart:	n/a
8	chr11:71326282-71326332	HAEpiC	amniotic membrane:	n/a
9	chr11:71326282-71326332	U87	brain:	n/a
10	chr11:71326282-71326332	SK-N-SH_RA	brain:	n/a
11	chr11:71326282-71326332	HEEpiC	esophagus:	n/a
12	chr11:71326282-71326332	BJ	skin:	n/a
13	chr11:71326282-71326332	AG04450	lung:	fetal
14	chr11:71326282-71326332	HRCEpiC	kidney:	n/a
15	chr11:71326282-71326332	ovcar-3	ovarian:	n/a
16	chr11:71326282-71326332	GM12891	blood:	n/a
17	chr11:71326282-71326332	NHBE	bronchial:	n/a
18	chr11:71326282-71326332	MCF-7	breast:	n/a
19	chr11:71326282-71326332	PFSK-1	brain:	n/a
20	chr11:71326282-71326332	SK-N-MC	brain:	n/a
21	chr11:71326282-71326332	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:71326282-71326332	AG09309	skin:	n/a
23	chr11:71326282-71326332	RPTEC	kidney:	n/a
24	chr11:71326282-71326332	HepG2	liver:	n/a
25	chr11:71326282-71326332	HCPEpiC	choroid plexus:	n/a
26	chr11:71326282-71326332	HCF	heart:	n/a
27	chr11:71326282-71326332	K562	blood:	n/a
28	chr11:71326282-71326332	Hepatocyte	liver:	n/a
29	chr11:71326282-71326332	AG04449	skin:	fetal
30	chr11:71326282-71326332	HUVEC	blood vessel:	n/a
31	chr11:71326282-71326332	HMEC	breast:	n/a
32	chr11:71326282-71326332	AG10803	skin:	n/a
33	chr11:71326282-71326332	HEK293	kidney:	embryo
34	chr11:71326282-71326332	MCF10A-Er-Src	breast:	n/a
35	chr11:71326282-71326332	HNPCEpiC	eye:	n/a
36	chr11:71326282-71326332	H1-hESC	embryonic stem cell:	embryo
37	chr11:71326282-71326332	NT2-D1	testis:	n/a
38	chr11:71326282-71326332	GM06990	blood:	n/a
39	chr11:71326282-71326332	PrEC	prostate:	n/a
40	chr11:71326282-71326332	BE2_C	brain:	n/a
41	chr11:71326282-71326332	GM12878	blood:	n/a
42	chr11:71326282-71326332	HRPEpiC	eye:	n/a
43	chr11:71326282-71326332	SAEC	small airway:	n/a
44	chr11:71326282-71326332	NB4	blood:	n/a
45	chr11:71326282-71326332	A549	lung:	n/a
46	chr11:71326282-71326332	HCT-116	colon:	n/a
47	chr11:71326282-71326332	SK-N-SH	brain:	n/a
48	chr11:71326282-71326332	NH-A	brain:	n/a
49	chr11:71326282-71326332	Jurkat	blood:	n/a
50	chr11:71326282-71326332	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
OR7E4P	TF binding region
OR7E4P	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1060714	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10736771	0.83[ASN][1000 genomes]
rs10792811	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898387	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898390	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898391	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898394	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10898395	0.85[ASN][1000 genomes]
rs11234332	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234333	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234353	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234358	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11518713	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12363122	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3888289	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4081430	0.82[ASN][1000 genomes]
rs4245445	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4614476	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4623928	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4945066	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7130930	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930728	0.80[ASN][1000 genomes]
rs7937575	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7938461	0.84[EUR][1000 genomes]
rs7939179	0.89[EUR][1000 genomes]
rs7948904	0.88[EUR][1000 genomes]
rs9326445	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9665982	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9666886	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9667092	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9736578	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1043207	chr11:71293875-71442666	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037088	chr11:71293875-71538991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1036258	chr11:71299175-71523551	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1041027	chr11:71299175-71527896	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1051879	chr11:71299175-71536860	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1044041	chr11:71299175-71538991	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv555403	chr11:71301189-71430470	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3369271	chr11:71307946-71334603	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv972040	chr11:71315526-71330518	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv897901	chr11:71316093-71441301	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv897902	chr11:71316093-71468856	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv897903	chr11:71316093-71523766	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	esv1823937	chr11:71321206-71347525	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71324600-71327000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:71325200-71327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:71325600-71327200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:71325600-71327200	Enhancers	NHEK	skin
5	chr11:71325800-71327000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:71326000-71326400	Enhancers	Placenta	Placenta
7	chr11:71326000-71326400	Weak transcription	HMEC	breast

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