Variant report

Variant	rs1444631
Chromosome Location	chr12:20562060-20562061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20555097..20557105-chr12:20561308..20563453,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10505865	0.83[EUR][1000 genomes]
rs10734701	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743369	1.00[ASN][1000 genomes]
rs10770655	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841512	0.83[EUR][1000 genomes]
rs10841515	1.00[ASN][1000 genomes]
rs12370696	1.00[ASN][1000 genomes]
rs1373572	1.00[ASN][1000 genomes]
rs1373573	1.00[ASN][1000 genomes]
rs1444628	0.81[EUR][1000 genomes]
rs1444629	0.81[EUR][1000 genomes]
rs1444630	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1444633	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444634	0.80[EUR][1000 genomes]
rs1530445	1.00[ASN][1000 genomes]
rs1822751	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs1822752	1.00[ASN][1000 genomes]
rs1822753	1.00[ASN][1000 genomes]
rs1822756	1.00[ASN][1000 genomes]
rs2417850	1.00[ASN][1000 genomes]
rs3919734	1.00[ASN][1000 genomes]
rs4762752	1.00[ASN][1000 genomes]
rs4762950	0.86[CEU][hapmap]
rs4762951	1.00[ASN][1000 genomes]
rs4762955	0.80[EUR][1000 genomes]
rs5007546	1.00[ASN][1000 genomes]
rs5014038	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133921	1.00[ASN][1000 genomes]
rs7299430	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964191	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs7964703	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs7979838	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs978349	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
2	chr12:20550400-20568200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:20553200-20571200	Weak transcription	Psoas Muscle	Psoas
4	chr12:20556400-20562600	Weak transcription	Fetal Kidney	kidney
5	chr12:20556400-20573200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:20556600-20562400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:20556600-20562600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:20556600-20582400	Weak transcription	Osteobl	bone
9	chr12:20557000-20563000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:20558200-20568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:20558400-20562600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:20558400-20562600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:20558400-20562600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:20558400-20562600	Weak transcription	Fetal Intestine Large	intestine
15	chr12:20558400-20562600	Weak transcription	Fetal Intestine Small	intestine
16	chr12:20558400-20563000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:20558400-20566400	Weak transcription	Right Ventricle	heart
18	chr12:20558600-20562600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:20558600-20566200	Weak transcription	Left Ventricle	heart
20	chr12:20558600-20588000	Weak transcription	HUVEC	blood vessel
21	chr12:20558800-20562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:20559000-20562200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:20559000-20562600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:20559800-20577800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:20561600-20562600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:20561600-20565200	Genic enhancers	Hela-S3	cervix
27	chr12:20561800-20562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:20561800-20563400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:20561800-20563600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:20561800-20564600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:20561800-20564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:20562000-20563400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links