Variant report

Variant	rs56014465
Chromosome Location	chr12:49891506-49891507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49883433..49885919-chr12:49890258..49892176,2	MCF-7	breast:
2	chr12:49889623..49891962-chr12:49960007..49961809,2	MCF-7	breast:
3	chr12:49759750..49761525-chr12:49890654..49893195,2	K562	blood:
4	chr12:49758896..49762283-chr12:49889648..49893861,3	MCF-7	breast:
5	chr12:49759340..49761846-chr12:49889579..49891546,2	MCF-7	breast:
6	chr12:49890275..49892320-chr12:49896364..49899114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction
ENSG00000187778	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11168999	1.00[ASN][1000 genomes]
rs11169023	1.00[ASN][1000 genomes]
rs11830820	1.00[AMR][1000 genomes]
rs11836976	1.00[AMR][1000 genomes]
rs12299908	1.00[ASN][1000 genomes]
rs12305457	1.00[ASN][1000 genomes]
rs12306194	1.00[ASN][1000 genomes]
rs12306785	1.00[ASN][1000 genomes]
rs12310836	1.00[ASN][1000 genomes]
rs12317050	1.00[ASN][1000 genomes]
rs12320273	1.00[ASN][1000 genomes]
rs12322425	1.00[ASN][1000 genomes]
rs17853062	1.00[AMR][1000 genomes]
rs56005192	1.00[AMR][1000 genomes]
rs56140046	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56330550	1.00[AMR][1000 genomes]
rs57546911	1.00[AMR][1000 genomes]
rs58095611	1.00[ASN][1000 genomes]
rs58557116	1.00[AMR][1000 genomes]
rs60712360	1.00[AMR][1000 genomes]
rs60865902	1.00[AMR][1000 genomes]
rs61110708	1.00[AMR][1000 genomes]
rs61733848	1.00[ASN][1000 genomes]
rs7132759	1.00[ASN][1000 genomes]
rs7296117	1.00[AMR][1000 genomes]
rs7299056	1.00[AMR][1000 genomes]
rs7299820	1.00[ASN][1000 genomes]
rs7309243	1.00[AMR][1000 genomes]
rs7314265	1.00[ASN][1000 genomes]
rs73305039	1.00[ASN][1000 genomes]
rs73305072	1.00[ASN][1000 genomes]
rs73305076	1.00[ASN][1000 genomes]
rs73305095	1.00[ASN][1000 genomes]
rs74087114	1.00[AMR][1000 genomes]
rs74087152	1.00[AMR][1000 genomes]
rs74089008	1.00[AMR][1000 genomes]
rs74089010	1.00[AMR][1000 genomes]
rs74089028	1.00[AMR][1000 genomes]
rs74089030	1.00[AMR][1000 genomes]
rs74089031	1.00[AMR][1000 genomes]
rs74089060	1.00[AMR][1000 genomes]
rs74089561	1.00[AMR][1000 genomes]
rs74089562	1.00[ASN][1000 genomes]
rs74089565	1.00[AMR][1000 genomes]
rs74091029	1.00[AMR][1000 genomes]
rs7963130	1.00[ASN][1000 genomes]
rs7970334	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv518746	chr12:49870964-49924637	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
3	chr12:49850400-49911000	Weak transcription	K562	blood
4	chr12:49853200-49913400	Weak transcription	Thymus	Thymus
5	chr12:49856800-49898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:49872200-49895000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:49873800-49904600	Weak transcription	Fetal Heart	heart
11	chr12:49874000-49904400	Weak transcription	Fetal Brain Male	brain
12	chr12:49874800-49914200	Weak transcription	Fetal Kidney	kidney
13	chr12:49876400-49894800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:49876400-49897600	Weak transcription	Small Intestine	intestine
15	chr12:49876400-49911200	Weak transcription	Adipose Nuclei	Adipose
16	chr12:49876600-49893200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:49876800-49898000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:49876800-49905200	Weak transcription	Right Ventricle	heart
19	chr12:49876800-49916200	Weak transcription	Psoas Muscle	Psoas
20	chr12:49877000-49893000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:49877000-49908800	Weak transcription	NHDF-Ad	bronchial
22	chr12:49877000-49909000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:49877600-49902000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:49878000-49893600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:49878200-49892400	Weak transcription	Liver	Liver
26	chr12:49878600-49918600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:49880200-49893200	Weak transcription	Fetal Lung	lung
28	chr12:49880400-49916000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:49881000-49892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:49881800-49897400	Weak transcription	Gastric	stomach
31	chr12:49882200-49918800	Weak transcription	Colonic Mucosa	Colon
32	chr12:49882400-49918400	Weak transcription	Lung	lung
33	chr12:49882600-49916400	Weak transcription	Aorta	Aorta
34	chr12:49884200-49893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:49884200-49918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:49884200-49918600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:49884400-49899400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:49884600-49894000	Weak transcription	Fetal Brain Female	brain
39	chr12:49884600-49916400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:49885600-49901800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:49885800-49904600	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:49886000-49918400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:49886200-49893200	Weak transcription	Placenta	Placenta
44	chr12:49886400-49894000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:49886400-49896200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:49886400-49918200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:49886600-49895800	Weak transcription	HMEC	breast
48	chr12:49887000-49895000	Strong transcription	GM12878-XiMat	blood
49	chr12:49887400-49891600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:49887400-49891600	Strong transcription	NHEK	skin

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