Variant report

Variant	rs12723748
Chromosome Location	chr1:78397713-78397714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78393897..78395794-chr1:78397556..78400476,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10437022	0.88[AMR][1000 genomes]
rs10873960	0.88[AMR][1000 genomes]
rs11162400	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11162403	0.85[AMR][1000 genomes]
rs1166697	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1166701	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1166702	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1166704	0.84[AMR][1000 genomes]
rs1166705	0.87[AMR][1000 genomes]
rs1166706	0.87[AMR][1000 genomes]
rs1166707	0.90[AMR][1000 genomes]
rs1166709	0.80[AMR][1000 genomes]
rs11805735	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11807240	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12146104	0.84[AMR][1000 genomes]
rs12405212	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12409561	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1335481	0.85[AMR][1000 genomes]
rs1536160	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1555798	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1616949	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17383213	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17387365	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1971368	0.85[AMR][1000 genomes]
rs2274257	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2296453	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3767028	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4370803	0.88[AMR][1000 genomes]
rs4372306	0.85[AMR][1000 genomes]
rs4949828	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4949829	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57421725	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6424640	0.84[AMR][1000 genomes]
rs6424650	0.82[AMR][1000 genomes]
rs6656888	0.82[AMR][1000 genomes]
rs750720	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7514007	0.80[AMR][1000 genomes]
rs7538210	0.85[AMR][1000 genomes]
rs9324166	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9659938	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9661193	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9730688	0.83[AMR][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	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78356200-78408600	Weak transcription	HMEC	breast
2	chr1:78367000-78407000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:78371600-78413000	Weak transcription	Psoas Muscle	Psoas
4	chr1:78372800-78418600	Weak transcription	Pancreas	Pancrea
5	chr1:78382200-78407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:78382200-78408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:78382400-78405600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:78383000-78400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:78383600-78418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:78383800-78404000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:78384600-78406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:78385200-78400000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:78387600-78399400	Weak transcription	Fetal Intestine Small	intestine
14	chr1:78387800-78412600	Weak transcription	Fetal Brain Male	brain
15	chr1:78388600-78416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:78388800-78410000	Strong transcription	HSMMtube	muscle
17	chr1:78389000-78414600	Strong transcription	NH-A	brain
18	chr1:78389200-78400200	Weak transcription	Gastric	stomach
19	chr1:78390200-78399400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:78390200-78409800	Weak transcription	NHEK	skin
21	chr1:78391200-78401000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:78391200-78407000	Weak transcription	Fetal Kidney	kidney
23	chr1:78391200-78407200	Strong transcription	Osteobl	bone
24	chr1:78391400-78404000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:78391600-78403400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:78391800-78398800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:78392000-78406200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:78392000-78411000	Weak transcription	Brain Anterior Caudate	brain
29	chr1:78392200-78420400	Strong transcription	HSMM	muscle
30	chr1:78392400-78402800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:78392800-78405000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:78392800-78408800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:78393000-78405800	Weak transcription	Fetal Thymus	thymus
34	chr1:78393000-78406800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:78393000-78418600	Weak transcription	Lung	lung
36	chr1:78393200-78408000	Weak transcription	Primary B cells from cord blood	blood
37	chr1:78393200-78417400	Weak transcription	Small Intestine	intestine
38	chr1:78393400-78409000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:78393400-78418000	Weak transcription	Stomach Mucosa	stomach
40	chr1:78394000-78404800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:78394000-78406600	Weak transcription	GM12878-XiMat	blood
42	chr1:78394000-78407600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:78394000-78411400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:78394200-78406400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:78394600-78397800	Strong transcription	Left Ventricle	heart
46	chr1:78394800-78399400	Weak transcription	Fetal Stomach	stomach
47	chr1:78394800-78400800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:78394800-78404600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:78395600-78404200	Strong transcription	Colon Smooth Muscle	Colon
50	chr1:78395800-78397800	Strong transcription	Aorta	Aorta

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