Variant report

Variant	rs72487544
Chromosome Location	chr12:117469614-117469615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117468241..117470806-chr12:117471546..117474082,2	K562	blood:
2	chr12:117465370..117468011-chr12:117469598..117472527,2	K562	blood:
3	chr12:117462045..117463688-chr12:117467328..117470013,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TESC-3	chr12:117468955-117470651	NONHSAT030978

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10850749	0.96[ASN][1000 genomes]
rs11068233	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11068265	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068267	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068268	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068275	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11068278	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068279	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068285	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068288	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068304	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068305	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227740	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228058	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297748	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313807	0.96[ASN][1000 genomes]
rs12313968	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12318749	0.96[ASN][1000 genomes]
rs17582998	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583110	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454853	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57066310	0.96[ASN][1000 genomes]
rs57212223	0.96[ASN][1000 genomes]
rs58547422	0.96[ASN][1000 genomes]
rs59143111	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60601556	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7980519	0.82[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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
2	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
3	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:117453600-117470600	Weak transcription	Psoas Muscle	Psoas
5	chr12:117461600-117470600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:117461800-117469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:117463200-117470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:117463200-117471000	Weak transcription	Right Atrium	heart
10	chr12:117463400-117470200	Weak transcription	GM12878-XiMat	blood
11	chr12:117463600-117470600	Weak transcription	Fetal Kidney	kidney
12	chr12:117464000-117470000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:117464000-117470800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:117464000-117471800	Weak transcription	K562	blood
15	chr12:117464600-117471000	Weak transcription	HSMM	muscle
16	chr12:117465600-117470600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:117466000-117470400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:117466200-117474600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:117466400-117469800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:117466400-117470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:117466400-117470400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:117466400-117470400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:117466400-117470400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:117466400-117470400	Weak transcription	Brain Germinal Matrix	brain
25	chr12:117466400-117470400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:117466400-117470600	Weak transcription	Ovary	ovary
27	chr12:117466400-117470800	Weak transcription	Colonic Mucosa	Colon
28	chr12:117466400-117470800	Weak transcription	Gastric	stomach
29	chr12:117466400-117470800	Weak transcription	Right Ventricle	heart
30	chr12:117466400-117471000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:117466400-117473800	Weak transcription	Aorta	Aorta
32	chr12:117466400-117475600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:117466600-117470000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:117466600-117470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:117466600-117471000	Weak transcription	Esophagus	oesophagus
36	chr12:117466600-117479800	Weak transcription	Hela-S3	cervix
37	chr12:117466800-117470000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:117466800-117470400	Weak transcription	Stomach Mucosa	stomach
39	chr12:117466800-117470600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:117466800-117470800	Weak transcription	NHLF	lung
41	chr12:117467000-117470000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:117467000-117470200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:117467000-117470400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:117467000-117470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:117467000-117470600	Weak transcription	NHDF-Ad	bronchial
46	chr12:117467000-117475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:117467000-117479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:117467200-117470000	Weak transcription	NHEK	skin
49	chr12:117467200-117470200	Weak transcription	Fetal Intestine Large	intestine
50	chr12:117467200-117470400	Weak transcription	Brain Cingulate Gyrus	brain

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