Variant report

Variant	rs12370222
Chromosome Location	chr12:32802028-32802029
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1004968	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10771969	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771970	0.84[ASN][1000 genomes]
rs10771971	0.90[ASN][1000 genomes]
rs10771972	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771973	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844252	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844253	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844254	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10844255	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs10844256	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs10844257	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs10844258	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10844259	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10844260	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844261	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844262	0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs10844263	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844264	0.83[ASN][1000 genomes]
rs10844265	0.83[ASN][1000 genomes]
rs10844266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844268	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844270	0.90[ASN][1000 genomes]
rs10844271	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844272	0.88[ASN][1000 genomes]
rs11052103	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052104	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11052110	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052114	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052117	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052123	0.92[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs11052124	0.84[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs11052126	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052128	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052130	0.90[ASN][1000 genomes]
rs1133509	0.90[ASN][1000 genomes]
rs11831099	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12311362	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12319480	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1473652	0.88[ASN][1000 genomes]
rs1875060	0.90[ASN][1000 genomes]
rs1880557	0.90[ASN][1000 genomes]
rs1909510	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2133541	0.89[ASN][1000 genomes]
rs2173572	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2389101	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4438130	0.90[ASN][1000 genomes]
rs4931648	0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs56397387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61652801	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67940080	0.90[ASN][1000 genomes]
rs7306183	0.83[ASN][1000 genomes]
rs7306370	0.90[ASN][1000 genomes]
rs7306976	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7962152	0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7964947	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7966020	0.92[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs7970584	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs999840	0.83[CEU][hapmap];0.83[JPT][hapmap]

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	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:32793600-32802600	Weak transcription	Right Ventricle	heart
3	chr12:32793600-32802800	Weak transcription	Lung	lung
4	chr12:32793600-32804400	Weak transcription	Stomach Mucosa	stomach
5	chr12:32793600-32810400	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:32793600-32810800	Weak transcription	Ovary	ovary
7	chr12:32793600-32812800	Weak transcription	Aorta	Aorta
8	chr12:32793600-32813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:32793600-32819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:32793800-32802800	Weak transcription	Placenta	Placenta
11	chr12:32793800-32803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:32793800-32803800	Weak transcription	HepG2	liver
13	chr12:32793800-32810400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:32794000-32803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:32794000-32803600	Weak transcription	NH-A	brain
16	chr12:32794800-32802400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:32794800-32803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:32794800-32812200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:32795800-32802200	Weak transcription	HSMMtube	muscle
20	chr12:32796000-32803200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:32796000-32803400	Weak transcription	HMEC	breast
22	chr12:32796000-32810400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:32796200-32803000	Weak transcription	HUVEC	blood vessel
24	chr12:32797000-32812200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:32797800-32802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32798000-32806400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:32798400-32802800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:32799400-32803400	Weak transcription	NHEK	skin
29	chr12:32799600-32803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:32799600-32810800	Weak transcription	Brain Substantia Nigra	brain
31	chr12:32799600-32812000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:32799600-32812200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:32799600-32812800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:32799600-32813000	Weak transcription	Left Ventricle	heart
35	chr12:32799600-32813200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:32799800-32802200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:32799800-32803400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:32800000-32803800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:32800400-32802200	Weak transcription	HSMM	muscle
40	chr12:32800600-32802200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:32800800-32805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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