Variant report

Variant	rs741615
Chromosome Location	chr12:29826318-29826319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10219522	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843473	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10843479	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843481	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843484	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843485	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843490	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050346	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050350	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050359	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050361	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050365	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050391	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050396	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12368564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1988266	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6487843	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7135501	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741613	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs993994	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[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	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29794400-29831800	Weak transcription	Ovary	ovary
2	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
3	chr12:29806800-29829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:29816600-29840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:29820400-29844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:29821000-29827400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:29821200-29829600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:29821400-29828600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:29821400-29829800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:29822400-29828200	Weak transcription	Aorta	Aorta
12	chr12:29822400-29840200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29823000-29829400	Weak transcription	Right Atrium	heart
14	chr12:29825200-29827600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:29825400-29826400	Enhancers	Colon Smooth Muscle	Colon
16	chr12:29825400-29829400	Weak transcription	Spleen	Spleen
17	chr12:29825400-29833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:29825600-29826400	Enhancers	HSMM	muscle
20	chr12:29825600-29827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:29825800-29826400	Enhancers	Osteobl	bone
22	chr12:29825800-29827400	Weak transcription	Left Ventricle	heart
23	chr12:29825800-29828400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:29825800-29829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:29825800-29832800	Weak transcription	Small Intestine	intestine
26	chr12:29826000-29826800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:29826000-29826800	Weak transcription	Psoas Muscle	Psoas
28	chr12:29826000-29827400	Weak transcription	Fetal Stomach	stomach
29	chr12:29826000-29827600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:29826000-29827600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:29826000-29827800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:29826000-29829400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:29826000-29829400	Weak transcription	HSMMtube	muscle
34	chr12:29826000-29829600	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:29826000-29829800	Weak transcription	Fetal Heart	heart
36	chr12:29826200-29827400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:29826200-29827400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:29826200-29827800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:29826200-29829400	Weak transcription	HMEC	breast

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