Variant report

Variant	rs11045221
Chromosome Location	chr12:20555734-20555735
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: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10505865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10732533	0.86[ASN][1000 genomes]
rs10732534	0.86[ASN][1000 genomes]
rs10743370	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs10743372	0.86[ASN][1000 genomes]
rs10743373	0.86[ASN][1000 genomes]
rs10743374	0.86[ASN][1000 genomes]
rs10770649	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10770650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10770651	0.87[ASN][1000 genomes]
rs10770652	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10770653	0.86[ASN][1000 genomes]
rs10770654	0.83[ASN][1000 genomes]
rs10770656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10841501	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10841507	0.83[AMR][1000 genomes]
rs10841509	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10841510	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10841512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10841513	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10841516	0.97[ASN][1000 genomes]
rs11045203	0.92[ASN][1000 genomes]
rs11045206	1.00[ASN][1000 genomes]
rs11045207	1.00[ASN][1000 genomes]
rs11045211	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs11045218	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11045220	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11045222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11045223	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11045224	0.87[ASN][1000 genomes]
rs11045225	0.87[ASN][1000 genomes]
rs11045226	0.87[ASN][1000 genomes]
rs11045227	0.86[ASN][1000 genomes]
rs11045228	0.86[ASN][1000 genomes]
rs11045230	0.97[ASN][1000 genomes]
rs12297116	0.98[ASN][1000 genomes]
rs12370745	0.86[ASN][1000 genomes]
rs12372457	0.83[ASN][1000 genomes]
rs1348583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1444628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1444629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1444630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1444634	0.87[ASN][1000 genomes]
rs1444635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1444641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1444643	0.87[ASN][1000 genomes]
rs1444644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1444645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1444646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16922851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1838447	0.87[ASN][1000 genomes]
rs1838448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4762955	0.87[ASN][1000 genomes]
rs5014033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5014034	0.86[ASN][1000 genomes]
rs5014035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5014036	0.86[ASN][1000 genomes]
rs5014037	0.86[ASN][1000 genomes]
rs5014039	0.86[ASN][1000 genomes]
rs5014040	0.86[ASN][1000 genomes]
rs57818090	0.83[AMR][1000 genomes]
rs58810783	0.83[AMR][1000 genomes]
rs60593141	0.89[ASN][1000 genomes]
rs60977432	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6487083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6487084	0.86[ASN][1000 genomes]
rs6487085	0.86[ASN][1000 genomes]
rs6487086	0.86[ASN][1000 genomes]
rs7136586	0.98[ASN][1000 genomes]
rs71450706	0.87[ASN][1000 genomes]
rs7310385	0.87[ASN][1000 genomes]
rs7314448	0.86[ASN][1000 genomes]
rs73232485	0.92[ASN][1000 genomes]
rs7954501	0.87[ASN][1000 genomes]
rs7957567	0.87[ASN][1000 genomes]
rs7967538	0.87[ASN][1000 genomes]
rs935258	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs978349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9805045	0.86[ASN][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
2	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
3	chr12:20544000-20556000	Weak transcription	Osteobl	bone
4	chr12:20544800-20555800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20548200-20556000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:20549400-20557800	Weak transcription	Right Ventricle	heart
7	chr12:20550400-20568200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:20551600-20556200	Weak transcription	HUVEC	blood vessel
9	chr12:20552000-20555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:20553000-20555800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:20553200-20556000	Weak transcription	Fetal Heart	heart
12	chr12:20553200-20571200	Weak transcription	Psoas Muscle	Psoas
13	chr12:20554000-20557400	Genic enhancers	Hela-S3	cervix
14	chr12:20554400-20555800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:20554800-20555800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:20554800-20556000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:20555000-20556600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:20555200-20556200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:20555400-20557800	Weak transcription	Fetal Intestine Small	intestine
20	chr12:20555600-20555800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:20555600-20557600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:20555600-20557600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:20555600-20558400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:20555600-20559000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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