Variant report

Variant	rs58731514
Chromosome Location	chr12:105083069-105083070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12579373	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12581376	1.00[ASN][1000 genomes]
rs12581735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176681	0.97[ASN][1000 genomes]
rs60963585	0.82[AFR][1000 genomes]
rs703664	0.88[ASN][1000 genomes]
rs703667	0.88[ASN][1000 genomes]
rs703671	0.88[ASN][1000 genomes]
rs703672	0.88[ASN][1000 genomes]
rs703677	0.88[ASN][1000 genomes]
rs703678	0.88[ASN][1000 genomes]
rs73187417	1.00[EUR][1000 genomes]
rs73390104	0.97[ASN][1000 genomes]
rs7954613	0.88[ASN][1000 genomes]
rs7964130	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs861345	0.88[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:105074000-105085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105074200-105083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:105074600-105089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:105075000-105083200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:105076800-105083600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:105076800-105085600	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:105076800-105086800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:105077000-105088600	Weak transcription	Lung	lung
13	chr12:105077000-105089000	Weak transcription	Left Ventricle	heart
14	chr12:105078000-105084800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:105078400-105085000	Weak transcription	Spleen	Spleen
16	chr12:105078400-105085400	Weak transcription	Right Atrium	heart
17	chr12:105078600-105083600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:105079000-105088000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:105079200-105085800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:105079400-105085600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:105079800-105086400	Weak transcription	Fetal Brain Female	brain
22	chr12:105079800-105088800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:105080200-105083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:105080200-105083400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:105080200-105084000	Enhancers	Primary B cells from cord blood	blood
26	chr12:105080200-105085800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:105080200-105087800	Weak transcription	NH-A	brain
28	chr12:105080200-105088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:105080200-105088600	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:105080200-105088800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:105080400-105085600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:105080400-105086000	Weak transcription	A549	lung
33	chr12:105080400-105087800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:105080400-105087800	Weak transcription	NHLF	lung
35	chr12:105080400-105088200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:105080400-105088800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:105080400-105131800	Weak transcription	NHEK	skin
38	chr12:105080800-105083800	Enhancers	Fetal Thymus	thymus
39	chr12:105081000-105088600	Weak transcription	Small Intestine	intestine
40	chr12:105081600-105088400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:105081800-105085600	Weak transcription	Thymus	Thymus
42	chr12:105081800-105086800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:105082000-105083200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:105082000-105087200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:105082000-105087400	Genic enhancers	Dnd41	blood
46	chr12:105082200-105084600	Weak transcription	GM12878-XiMat	blood
47	chr12:105082200-105085600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:105082200-105085800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:105082400-105085400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:105082400-105086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links