Variant report

Variant	rs464227
Chromosome Location	chr12:118722997-118722998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118718687..118720967-chr12:118721247..118724156,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1151900	0.93[EUR][1000 genomes]
rs1699160	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1726390	0.84[EUR][1000 genomes]
rs191626	0.87[EUR][1000 genomes]
rs2650175	0.85[EUR][1000 genomes]
rs353884	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs353888	0.84[EUR][1000 genomes]
rs353891	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs353893	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs353894	0.84[EUR][1000 genomes]
rs353895	0.82[EUR][1000 genomes]
rs353897	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs383371	0.84[EUR][1000 genomes]
rs411828	0.90[EUR][1000 genomes]
rs424034	0.90[EUR][1000 genomes]
rs428073	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431038	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs459547	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs461801	0.85[EUR][1000 genomes]
rs466600	0.82[AMR][1000 genomes]
rs514826	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs556081	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572869	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61945179	0.89[EUR][1000 genomes]
rs708865	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs708867	0.84[EUR][1000 genomes]
rs708868	0.84[EUR][1000 genomes]
rs795476	0.82[EUR][1000 genomes]
rs811247	0.84[EUR][1000 genomes]

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
2	chr12:118652200-118727800	Weak transcription	NHLF	lung
3	chr12:118669000-118725200	Weak transcription	K562	blood
4	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:118674000-118726200	Weak transcription	Lung	lung
7	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:118694600-118739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:118697600-118723600	Weak transcription	Pancreas	Pancrea
16	chr12:118699200-118737600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:118699800-118727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:118699800-118733800	Weak transcription	Fetal Stomach	stomach
19	chr12:118699800-118736000	Weak transcription	Fetal Intestine Small	intestine
20	chr12:118700200-118737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:118700400-118738000	Weak transcription	Fetal Intestine Large	intestine
22	chr12:118702600-118744600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:118702800-118726200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:118704000-118739000	Weak transcription	NHDF-Ad	bronchial
25	chr12:118709800-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:118710800-118738000	Weak transcription	NHEK	skin
27	chr12:118711600-118723800	Weak transcription	Placenta	Placenta
28	chr12:118712200-118739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:118712400-118745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:118712600-118730600	Weak transcription	GM12878-XiMat	blood
31	chr12:118712600-118737400	Weak transcription	Small Intestine	intestine
32	chr12:118712800-118738000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:118713200-118723600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:118714000-118727600	Weak transcription	Esophagus	oesophagus
35	chr12:118715000-118741200	Weak transcription	Thymus	Thymus
36	chr12:118716200-118728000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:118718200-118724200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:118718800-118726200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:118719000-118728000	Weak transcription	Right Ventricle	heart
40	chr12:118719200-118728000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:118719200-118744400	Weak transcription	HSMM	muscle
42	chr12:118719600-118734600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:118720200-118724600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr12:118720400-118726000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:118720600-118723800	Weak transcription	NH-A	brain
46	chr12:118720600-118726200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:118720600-118734200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:118720800-118726200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:118721200-118730000	Weak transcription	Monocytes-CD14+_RO01746	blood

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