Variant report

Variant	rs7302635
Chromosome Location	chr12:45780673-45780674
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12321278	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578601	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913694	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2081589	0.93[AFR][1000 genomes]
rs34756223	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4583038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56151528	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57121130	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57985291	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58282976	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58674935	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59166276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59348316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59604789	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60452259	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60688397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138476	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299292	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300016	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302251	0.93[AFR][1000 genomes]
rs7302256	0.84[YRI][hapmap];0.93[AFR][1000 genomes]
rs7304126	0.93[AFR][1000 genomes]
rs7312150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313617	0.94[YRI][hapmap]
rs74081808	0.82[AMR][1000 genomes]
rs9788104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
6	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
10	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:45763400-45796000	Weak transcription	Osteobl	bone
13	chr12:45764400-45782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:45771200-45781400	Strong transcription	Primary B cells from cord blood	blood
19	chr12:45771200-45785000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:45771200-45785400	Strong transcription	Fetal Thymus	thymus
21	chr12:45771200-45785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:45771200-45786600	Strong transcription	Dnd41	blood
23	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
24	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:45771400-45781000	Strong transcription	Liver	Liver
27	chr12:45771400-45785400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:45771400-45786600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:45771800-45782200	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:45772000-45780800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:45772000-45781600	Strong transcription	Fetal Intestine Large	intestine
32	chr12:45772200-45782400	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:45772200-45782600	Strong transcription	Primary T cells from cord blood	blood
34	chr12:45772600-45785400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:45772600-45815400	Weak transcription	K562	blood
36	chr12:45773200-45782200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
39	chr12:45774000-45780800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:45774200-45786600	Strong transcription	Left Ventricle	heart
41	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
42	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:45775200-45782800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr12:45775400-45780800	Strong transcription	NHEK	skin
45	chr12:45775600-45780800	Strong transcription	Fetal Lung	lung
46	chr12:45775600-45783600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr12:45775600-45784400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:45775600-45785600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:45775600-45787000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:45775800-45780800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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