Variant report

Variant	rs2033029
Chromosome Location	chr12:29820698-29820699
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	chr12:29820059..29822400-chr12:29824073..29825750,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743668	0.88[AMR][1000 genomes]
rs10743669	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771561	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771563	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771566	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771567	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843475	0.83[EUR][1000 genomes]
rs11050352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050353	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228730	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2003607	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033027	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033028	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033036	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2033037	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2033040	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2033041	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4617668	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298533	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs759887	0.83[EUR][1000 genomes]
rs759888	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs759890	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965351	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965504	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7965682	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
2	chr12:29792000-29820800	Weak transcription	Spleen	Spleen
3	chr12:29793400-29826200	Weak transcription	NHLF	lung
4	chr12:29794200-29825600	Weak transcription	Fetal Stomach	stomach
5	chr12:29794200-29825600	Weak transcription	HMEC	breast
6	chr12:29794400-29831800	Weak transcription	Ovary	ovary
7	chr12:29794800-29825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
9	chr12:29803600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:29805600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:29806600-29821000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:29806800-29829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:29810200-29825400	Weak transcription	HSMMtube	muscle
14	chr12:29810400-29825200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:29811000-29825200	Weak transcription	Fetal Heart	heart
16	chr12:29813400-29825200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:29813400-29825600	Weak transcription	HSMM	muscle
18	chr12:29813600-29820800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:29813600-29822200	Weak transcription	Adipose Nuclei	Adipose
20	chr12:29813600-29825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:29814000-29824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:29814000-29824600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:29816200-29825200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:29816200-29825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:29816200-29825600	Weak transcription	Left Ventricle	heart
26	chr12:29816400-29820800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:29816400-29820800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:29816400-29821800	Weak transcription	Aorta	Aorta
29	chr12:29816600-29820800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:29816600-29840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:29819000-29820800	Weak transcription	Psoas Muscle	Psoas
32	chr12:29819600-29821200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:29819600-29821200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:29819600-29821200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:29819600-29821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:29819800-29821200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:29819800-29821200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:29819800-29821400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:29820000-29821000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:29820000-29821200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:29820200-29821000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:29820400-29821200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr12:29820400-29844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:29820600-29821000	Weak transcription	Colon Smooth Muscle	Colon

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