Variant report

Variant	rs10505717
Chromosome Location	chr12:277182-277183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10744538	0.94[ASN][1000 genomes]
rs10773937	0.92[ASN][1000 genomes]
rs10848481	0.88[ASN][1000 genomes]
rs11061708	0.89[ASN][1000 genomes]
rs11061709	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368193	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17692962	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs183355	0.88[ASN][1000 genomes]
rs216227	0.88[ASN][1000 genomes]
rs2291917	0.87[ASN][1000 genomes]
rs2291918	0.92[ASN][1000 genomes]
rs2291919	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291920	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291921	0.97[EUR][1000 genomes]
rs2291922	0.96[EUR][1000 genomes]
rs2291923	0.96[EUR][1000 genomes]
rs3817016	0.84[EUR][1000 genomes]
rs3847946	0.83[EUR][1000 genomes]
rs3892665	0.88[ASN][1000 genomes]
rs3902269	0.82[EUR][1000 genomes]
rs4980859	0.96[EUR][1000 genomes]
rs502783	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs505387	0.89[ASN][1000 genomes]
rs559759	0.85[CHB][hapmap]
rs565091	0.83[ASN][1000 genomes]
rs57052808	0.89[ASN][1000 genomes]
rs61907087	0.86[ASN][1000 genomes]
rs61907088	0.85[ASN][1000 genomes]
rs633159	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7959974	0.89[CHB][hapmap]
rs7960096	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs7967899	0.87[ASN][1000 genomes]
rs7967909	0.85[ASN][1000 genomes]
rs7971499	0.87[ASN][1000 genomes]
rs797736	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983433	chr12:145740-400932	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv427901	chr12:146333-344299	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv428269	chr12:146333-344299	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1041243	chr12:150430-310571	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038621	chr12:150430-324923	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv898552	chr12:154752-303320	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:249000-284200	Weak transcription	Right Atrium	heart
2	chr12:253800-285600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:262800-284200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:266200-280000	Weak transcription	Right Ventricle	heart
5	chr12:268800-284200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:271600-277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:272400-278200	Weak transcription	Fetal Brain Female	brain
8	chr12:273000-279400	Enhancers	Fetal Intestine Small	intestine
9	chr12:273000-281000	Weak transcription	Colonic Mucosa	Colon
10	chr12:273200-279000	Enhancers	Fetal Intestine Large	intestine
11	chr12:273600-277400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:273600-277600	Weak transcription	Brain Germinal Matrix	brain
13	chr12:273600-284600	Weak transcription	Esophagus	oesophagus
14	chr12:273800-278200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:273800-278400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:274000-277200	Weak transcription	Stomach Mucosa	stomach
17	chr12:275000-279000	Enhancers	Fetal Thymus	thymus
18	chr12:275200-278400	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:275400-278000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:276000-277200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:276000-277800	Weak transcription	GM12878-XiMat	blood
22	chr12:276200-282800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:276200-284000	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:276400-277200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr12:276400-278600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:276400-278600	Enhancers	Left Ventricle	heart
27	chr12:276400-280200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr12:276400-281000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:276400-283000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:276600-279800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:276800-277200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:276800-277800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:276800-278000	Weak transcription	Liver	Liver
34	chr12:277000-277200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:277000-277200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:277000-277200	Enhancers	Fetal Stomach	stomach
37	chr12:277000-277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:277000-277600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:277000-277800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:277000-278000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:277000-278400	Enhancers	Fetal Kidney	kidney

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