Variant report

Variant	rs12727505
Chromosome Location	chr1:211822370-211822371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211816134..211817787-chr1:211819701..211822516,2	K562	blood:
2	chr1:211820504..211824177-chr1:211831233..211834573,3	MCF-7	breast:
3	chr1:211750037..211752864-chr1:211820167..211823136,4	MCF-7	breast:
4	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
5	chr1:211819966..211822371-chr1:211824422..211826209,2	K562	blood:

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10158305	0.83[EUR][1000 genomes]
rs10158307	0.83[EUR][1000 genomes]
rs10158309	0.83[EUR][1000 genomes]
rs10158749	0.82[EUR][1000 genomes]
rs10158790	0.83[EUR][1000 genomes]
rs10158874	0.82[EUR][1000 genomes]
rs10159253	0.81[EUR][1000 genomes]
rs10779564	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779565	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779566	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863919	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863920	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119780	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119786	0.85[EUR][1000 genomes]
rs11119787	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576789	0.85[EUR][1000 genomes]
rs11577255	0.85[EUR][1000 genomes]
rs12087826	0.90[AMR][1000 genomes]
rs12090722	0.96[ASN][1000 genomes]
rs12123429	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142250	0.82[EUR][1000 genomes]
rs12741252	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758005	0.84[EUR][1000 genomes]
rs1373293	0.83[EUR][1000 genomes]
rs35531215	0.83[EUR][1000 genomes]
rs4245741	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951415	0.87[ASN][1000 genomes]
rs4951416	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951418	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951419	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951421	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951537	0.81[ASN][1000 genomes]
rs4951539	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951540	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61851777	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540698	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6669878	0.83[EUR][1000 genomes]
rs6670986	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6671497	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6671506	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513348	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7523748	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7551699	0.85[EUR][1000 genomes]
rs894853	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs894854	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs894855	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
4	chr1:211817400-211827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
6	chr1:211817600-211823000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:211817600-211823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:211817600-211826800	Weak transcription	Gastric	stomach
9	chr1:211817600-211827000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
11	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:211818600-211823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:211819600-211824000	Enhancers	HUVEC	blood vessel
14	chr1:211819600-211824400	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:211820400-211826800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:211820800-211824400	Enhancers	HepG2	liver
17	chr1:211821000-211822600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:211821000-211823400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:211821200-211822800	Enhancers	Liver	Liver
20	chr1:211821200-211822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:211821200-211822800	Enhancers	Pancreas	Pancrea
22	chr1:211821200-211823600	Enhancers	Placenta	Placenta
23	chr1:211821200-211824000	Enhancers	Stomach Mucosa	stomach
24	chr1:211821200-211824200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:211821400-211822800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:211821400-211824000	Weak transcription	Small Intestine	intestine
27	chr1:211821600-211822400	Enhancers	K562	blood
28	chr1:211821800-211822600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:211821800-211828400	Weak transcription	Colonic Mucosa	Colon
30	chr1:211822000-211823200	Enhancers	A549	lung
31	chr1:211822000-211826800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:211822000-211826800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:211822200-211823000	Enhancers	Hela-S3	cervix
34	chr1:211822200-211827000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:211822200-211827000	Weak transcription	NHEK	skin
36	chr1:211822200-211828400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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