Variant report

Variant	rs12421218
Chromosome Location	chr11:120039797-120039798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:120038992..120040633-chr11:120083752..120086483,2	K562	blood:
2	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
3	chr11:119999095..120001127-chr11:120038214..120040210,2	MCF-7	breast:
4	chr11:120039493..120041713-chr11:120171400..120173344,2	MCF-7	breast:
5	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
6	chr11:119990371..119993698-chr11:120037887..120041016,6	MCF-7	breast:
7	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000679.2.1-3	chr11:120039685-120039856	NONHSAT024718

No data

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10790369	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10892544	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10892545	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217701	0.89[AMR][1000 genomes]
rs11217702	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11217705	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11217706	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11217707	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11217708	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217710	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217711	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217712	1.00[ASN][1000 genomes]
rs11217713	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217715	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217716	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217718	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217719	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217720	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217721	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217722	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11217723	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217724	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217725	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11217726	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217727	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217728	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217729	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217730	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217731	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217732	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217733	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217734	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217735	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217736	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217737	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217738	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217739	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217740	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217741	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217742	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11217743	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217744	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217745	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217746	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217748	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217749	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217750	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217751	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217753	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217754	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11535714	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12049837	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12224041	0.89[AMR][1000 genomes]
rs12224472	0.89[AMR][1000 genomes]
rs12225418	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12274981	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12281157	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12283165	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12291620	0.94[AMR][1000 genomes]
rs12417084	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12417094	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12417234	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12418352	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12419511	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12419830	0.89[AMR][1000 genomes]
rs12419976	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12419985	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12420985	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12422179	0.94[AMR][1000 genomes]
rs34981150	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3740728	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3740729	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3740730	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3740731	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs679074	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118957	1.00[AMR][1000 genomes]
rs7119349	1.00[AMR][1000 genomes]
rs7119458	1.00[AMR][1000 genomes]
rs73575945	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120039200-120039800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:120039200-120039800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:120039200-120039800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
4	chr11:120039200-120040400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr11:120039200-120040400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:120039200-120040400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:120039200-120040800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:120039200-120040800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:120039200-120040800	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr11:120039200-120040800	Enhancers	Spleen	Spleen
11	chr11:120039200-120041000	Bivalent Enhancer	Fetal Heart	heart
12	chr11:120039200-120041200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
18	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
20	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:120039400-120039800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:120039400-120039800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:120039400-120039800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:120039400-120039800	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr11:120039400-120039800	Bivalent/Poised TSS	Fetal Lung	lung
27	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
29	chr11:120039400-120039800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr11:120039400-120039800	Flanking Active TSS	HUVEC	blood vessel
34	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr11:120039400-120040000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:120039400-120040000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:120039400-120040000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr11:120039400-120040000	Bivalent/Poised TSS	A549	lung
39	chr11:120039400-120040200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:120039400-120040200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:120039400-120040200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:120039400-120040200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:120039400-120040200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:120039400-120040200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:120039400-120040200	Active TSS	Brain Hippocampus Middle	brain
46	chr11:120039400-120040200	Active TSS	Colon Smooth Muscle	Colon
47	chr11:120039400-120040200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr11:120039400-120040200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
49	chr11:120039400-120040200	Flanking Active TSS	Pancreas	Pancrea
50	chr11:120039400-120040400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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