Variant report

Variant	rs7297341
Chromosome Location	chr12:68318741-68318742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12309271	1.00[EUR][1000 genomes]
rs2860600	1.00[EUR][1000 genomes]
rs2906861	1.00[EUR][1000 genomes]
rs55916709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56215754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57329873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58019545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58123354	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58233262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58429466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58752621	1.00[EUR][1000 genomes]
rs58828387	1.00[EUR][1000 genomes]
rs58918170	1.00[AMR][1000 genomes]
rs59155952	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61260239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294696	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303763	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320687	1.00[EUR][1000 genomes]
rs73322739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322745	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099722	1.00[EUR][1000 genomes]
rs74099862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964651	1.00[AMR][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68307600-68318800	Weak transcription	Fetal Heart	heart
2	chr12:68310400-68319000	Weak transcription	Left Ventricle	heart
3	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:68314000-68321200	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:68314200-68319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:68314800-68320400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:68315000-68319000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:68315200-68319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:68315200-68319600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:68315200-68319800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:68315200-68320000	Weak transcription	Gastric	stomach
12	chr12:68315200-68321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:68315800-68321400	Weak transcription	HSMMtube	muscle
14	chr12:68316200-68319000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:68316200-68319000	Weak transcription	HMEC	breast
16	chr12:68316200-68319200	Weak transcription	NHEK	skin
17	chr12:68316200-68320600	Weak transcription	Fetal Intestine Large	intestine
18	chr12:68316200-68320600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:68316200-68322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:68317000-68323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:68317800-68319000	Weak transcription	Pancreas	Pancrea
22	chr12:68317800-68324800	Enhancers	Stomach Mucosa	stomach
23	chr12:68318200-68319400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:68318400-68319000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:68318400-68319000	Weak transcription	Lung	lung

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