Variant report

Variant	rs2062505
Chromosome Location	chr12:123084806-123084807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1021705	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10847141	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10847169	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10847170	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10847234	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10847298	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10847329	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058602	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058710	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11058797	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11058839	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11058840	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11058862	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11059000	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11611668	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11612869	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12370850	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34864383	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803004	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4579965	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61956121	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7398861	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7398939	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
3	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
11	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:123015600-123115000	Strong transcription	Dnd41	blood
14	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
15	chr12:123029200-123085000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:123037600-123095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
22	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:123058600-123110200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:123060200-123113000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:123067200-123094200	Weak transcription	Fetal Kidney	kidney
30	chr12:123067400-123095600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:123067600-123090000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:123067800-123089200	Weak transcription	Placenta	Placenta
33	chr12:123068000-123095400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:123069600-123099400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:123070600-123089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:123071200-123095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:123072600-123089200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:123072600-123095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:123072800-123087600	Weak transcription	Left Ventricle	heart
40	chr12:123075800-123085400	Strong transcription	Fetal Stomach	stomach
41	chr12:123076000-123094000	Weak transcription	Osteobl	bone
42	chr12:123076200-123089400	Weak transcription	NHLF	lung
43	chr12:123076400-123087200	Weak transcription	Hela-S3	cervix
44	chr12:123076400-123089200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:123076400-123089200	Weak transcription	HSMM	muscle
46	chr12:123076400-123089400	Weak transcription	Liver	Liver
47	chr12:123076400-123089600	Weak transcription	Fetal Brain Female	brain
48	chr12:123076600-123094200	Weak transcription	Primary B cells from cord blood	blood
49	chr12:123076600-123094200	Weak transcription	Adipose Nuclei	Adipose
50	chr12:123076600-123097200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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