Variant report

Variant	rs212851
Chromosome Location	chr7:26725389-26725390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26723957..26726724-chr7:27181666..27184631,2	MCF-7	breast:
2	chr7:26724644..26726693-chr7:27189270..27190835,2	MCF-7	breast:
3	chr7:26723927..26726163-chr7:26727475..26729887,2	K562	blood:

Variant related genes	Relation type
ENSG00000254369	Chromatin interaction
ENSG00000106006	Chromatin interaction
ENSG00000106004	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10227140	0.81[CEU][hapmap]
rs1024454	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10256799	0.81[CEU][hapmap]
rs10261915	0.81[CEU][hapmap]
rs10951145	0.81[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap]
rs10951149	0.81[CEU][hapmap]
rs1123157	0.81[CEU][hapmap]
rs1123158	0.81[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap]
rs11764558	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11770043	0.86[ASW][hapmap];0.81[CEU][hapmap];0.81[GIH][hapmap]
rs11770344	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11773029	0.81[CEU][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap]
rs12668948	0.80[EUR][1000 genomes]
rs12700754	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12700755	0.81[CEU][hapmap]
rs12700756	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12700757	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12700758	0.88[CEU][hapmap]
rs12700759	0.81[CEU][hapmap]
rs12700761	0.81[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap]
rs12700762	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13186	0.86[ASW][hapmap];0.80[CEU][hapmap];0.83[GIH][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1548022	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs1548478	0.81[CEU][hapmap]
rs1548479	0.81[CEU][hapmap]
rs1548480	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859101	0.80[CEU][hapmap]
rs2023819	0.81[CEU][hapmap]
rs2023821	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212837	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs212840	0.81[EUR][1000 genomes]
rs212842	0.81[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs212844	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs212845	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212846	0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs212847	0.80[ASW][hapmap];0.81[CEU][hapmap];0.83[GIH][hapmap];0.88[LWK][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs212849	0.81[EUR][1000 genomes]
rs212852	0.84[CEU][hapmap];0.83[GIH][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.85[TSI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs212853	0.85[CEU][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs212854	0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212855	0.82[EUR][1000 genomes]
rs212858	0.80[EUR][1000 genomes]
rs213527	0.86[ASW][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap]
rs2237328	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs2282906	0.86[ASW][hapmap];0.81[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2299101	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299102	0.81[CEU][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2391359	0.81[CEU][hapmap]
rs2391360	0.81[CEU][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap]
rs3801839	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs3801853	0.81[CEU][hapmap]
rs3801860	0.81[CEU][hapmap]
rs3801872	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4722628	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4722631	0.81[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap]
rs4722632	0.85[ASN][1000 genomes]
rs496173	0.95[JPT][hapmap]
rs498561	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs601106	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs6461961	0.81[CEU][hapmap]
rs6461965	0.81[CEU][hapmap]
rs6461971	0.81[CEU][hapmap]
rs6970591	0.80[CEU][hapmap]
rs6973237	0.81[CEU][hapmap]
rs757129	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7784257	0.94[EUR][1000 genomes]
rs7788165	0.82[EUR][1000 genomes]
rs7795313	0.85[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7802771	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7807640	0.81[CEU][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap]
rs7810179	0.93[EUR][1000 genomes]
rs7811764	0.80[EUR][1000 genomes]
rs891876	0.81[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap]
rs9648020	0.82[CEU][hapmap]
rs989250	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5672	chr7:26711462-26757891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs212851	EVX1	cis	parietal	SCAN
rs212851	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:26708800-26725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:26715000-26731200	Weak transcription	Lung	lung
4	chr7:26715600-26725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:26715600-26726000	Weak transcription	Osteobl	bone
6	chr7:26715600-26726200	Weak transcription	HMEC	breast
7	chr7:26716400-26726000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:26716400-26728200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:26716800-26729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:26720800-26728600	Weak transcription	Spleen	Spleen
11	chr7:26721000-26726000	Weak transcription	Fetal Intestine Large	intestine
12	chr7:26721000-26726200	Weak transcription	Fetal Intestine Small	intestine
13	chr7:26721200-26726000	Weak transcription	HepG2	liver
14	chr7:26722200-26726400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:26722200-26728800	Weak transcription	Small Intestine	intestine
16	chr7:26722600-26728600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:26723000-26728000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:26724200-26728200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:26724400-26726400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:26724400-26727000	Enhancers	Stomach Smooth Muscle	stomach
21	chr7:26724400-26728000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:26724400-26742000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:26724600-26725600	Strong transcription	Primary B cells from cord blood	blood
24	chr7:26724600-26726200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:26724600-26726200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:26724800-26725600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:26724800-26726600	Enhancers	NHDF-Ad	bronchial
28	chr7:26725000-26725600	Flanking Active TSS	HUVEC	blood vessel
29	chr7:26725000-26726400	Enhancers	Adipose Nuclei	Adipose
30	chr7:26725000-26727200	Enhancers	NHLF	lung
31	chr7:26725000-26728800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:26725200-26725400	Enhancers	Colonic Mucosa	Colon
33	chr7:26725200-26725400	Flanking Active TSS	Fetal Lung	lung
34	chr7:26725200-26725400	Enhancers	Rectal Smooth Muscle	rectum
35	chr7:26725200-26725400	Enhancers	A549	lung
36	chr7:26725200-26725600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:26725200-26725600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr7:26725200-26725600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:26725200-26725600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr7:26725200-26726600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:26725200-26726600	Enhancers	NHEK	skin
42	chr7:26725200-26727000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:26725200-26727000	Enhancers	Fetal Stomach	stomach

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