Variant report

Variant	rs10129028
Chromosome Location	chr12:67813807-67813808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10128823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176672	1.00[EUR][1000 genomes]
rs11176676	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11176679	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11176684	1.00[EUR][1000 genomes]
rs11176691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11176715	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176740	1.00[EUR][1000 genomes]
rs11176784	1.00[EUR][1000 genomes]
rs11503726	1.00[EUR][1000 genomes]
rs12297966	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299042	1.00[EUR][1000 genomes]
rs12299097	1.00[EUR][1000 genomes]
rs12300582	1.00[EUR][1000 genomes]
rs12303089	1.00[EUR][1000 genomes]
rs12306375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307363	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312040	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313282	1.00[EUR][1000 genomes]
rs12314503	1.00[EUR][1000 genomes]
rs12315624	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12318518	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318591	1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321292	1.00[EUR][1000 genomes]
rs12321396	1.00[EUR][1000 genomes]
rs12322901	1.00[EUR][1000 genomes]
rs17103652	1.00[EUR][1000 genomes]
rs17103772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4083304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57886620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61504642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6581751	1.00[EUR][1000 genomes]
rs7135195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7138362	1.00[EUR][1000 genomes]
rs7294827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306853	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320752	1.00[EUR][1000 genomes]
rs73322616	1.00[EUR][1000 genomes]
rs73326445	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954999	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7964763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966031	1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9989023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67805400-67814000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:67808000-67815400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:67808600-67818600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:67809000-67814200	Weak transcription	Fetal Kidney	kidney
5	chr12:67809200-67819800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:67809200-67824000	Weak transcription	Psoas Muscle	Psoas
7	chr12:67810000-67819600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:67810200-67814000	Weak transcription	Small Intestine	intestine
9	chr12:67810200-67819800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:67810600-67819600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:67810600-67819800	Weak transcription	HSMMtube	muscle
12	chr12:67812800-67814800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:67813000-67814400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:67813000-67814600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:67813000-67814600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:67813000-67814600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:67813000-67814600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:67813000-67814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:67813200-67814000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:67813200-67814400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:67813200-67814400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr12:67813200-67814400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:67813200-67814600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr12:67813200-67814800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:67813200-67814800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:67813200-67814800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:67813400-67814600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:67813400-67815000	Enhancers	Placenta	Placenta
29	chr12:67813600-67814000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:67813600-67814000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:67813600-67814400	Enhancers	Duodenum Mucosa	Duodenum
32	chr12:67813600-67814600	Enhancers	Pancreas	Pancrea
33	chr12:67813800-67815000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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