Variant report

Variant	rs60782728
Chromosome Location	chr12:120295640-120295641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10849699	0.87[EUR][1000 genomes]
rs11064878	1.00[EUR][1000 genomes]
rs11064902	1.00[EUR][1000 genomes]
rs11064910	0.87[EUR][1000 genomes]
rs11064913	0.87[EUR][1000 genomes]
rs11064915	0.87[EUR][1000 genomes]
rs11064918	0.87[EUR][1000 genomes]
rs11064920	0.87[EUR][1000 genomes]
rs11064926	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064930	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064931	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064933	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064934	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064935	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064936	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064937	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064938	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064939	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064940	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064941	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064942	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064944	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231774	0.87[EUR][1000 genomes]
rs280581	0.87[EUR][1000 genomes]
rs3742046	1.00[EUR][1000 genomes]
rs3809307	0.87[EUR][1000 genomes]
rs55680945	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57336895	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57617020	1.00[EUR][1000 genomes]
rs58261374	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58974044	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58988646	0.82[AFR][1000 genomes]
rs59953935	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7966776	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975107	0.87[EUR][1000 genomes]
rs7978181	0.87[EUR][1000 genomes]

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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
4	chr12:120259200-120311800	Strong transcription	Dnd41	blood
5	chr12:120265200-120301800	Weak transcription	Osteobl	bone
6	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
8	chr12:120272200-120306800	Weak transcription	HSMM	muscle
9	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:120276200-120298600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:120276200-120300600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:120276600-120297400	Strong transcription	Thymus	Thymus
15	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
17	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:120277600-120303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
20	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
21	chr12:120279400-120301600	Weak transcription	Fetal Intestine Small	intestine
22	chr12:120279600-120303800	Weak transcription	Fetal Intestine Large	intestine
23	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
25	chr12:120280200-120304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:120281200-120304400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:120281400-120306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:120285800-120298000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
30	chr12:120286200-120305600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:120286400-120303600	Weak transcription	NH-A	brain
32	chr12:120286600-120307000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:120287200-120301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:120289400-120305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:120289400-120305600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:120289400-120307600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:120289800-120297400	Weak transcription	Fetal Stomach	stomach
38	chr12:120289800-120304600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:120290000-120302400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:120290000-120313800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:120290400-120303800	Weak transcription	HMEC	breast
42	chr12:120291600-120302600	Weak transcription	Hela-S3	cervix
43	chr12:120292400-120298600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:120292600-120297200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr12:120292600-120297800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:120292800-120296400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:120292800-120297400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:120292800-120298400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:120292800-120298600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:120293200-120296000	Strong transcription	Fetal Muscle Trunk	muscle

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