Variant report

Variant	rs55812173
Chromosome Location	chr12:45762827-45762828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45742005..45743566-chr12:45762222..45763999,2	MCF-7	breast:
2	chr12:45720984..45722682-chr12:45761329..45763104,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12580320	1.00[AFR][1000 genomes]
rs12580810	1.00[AFR][1000 genomes]
rs1316777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1316778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2081592	0.98[AFR][1000 genomes]
rs2162321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4108249	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4108250	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55708540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57858655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58221634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58824383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59436840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59728495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59789543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60011223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60287166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60457106	1.00[AFR][1000 genomes]
rs60831882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61265799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61349051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294399	1.00[AFR][1000 genomes]
rs7299229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080884	1.00[AFR][1000 genomes]
rs7956153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7969594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7969966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7975088	1.00[AFR][1000 genomes];1.00[AMR][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:116 , 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	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
4	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:45745000-45779800	Weak transcription	Gastric	stomach
6	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
7	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
8	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:45750000-45772200	Weak transcription	K562	blood
11	chr12:45752200-45763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
14	chr12:45752400-45763800	Weak transcription	HMEC	breast
15	chr12:45757400-45763800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:45757800-45763400	Weak transcription	Placenta	Placenta
17	chr12:45757800-45763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:45757800-45763800	Weak transcription	Fetal Stomach	stomach
19	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:45758200-45763800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:45758200-45763800	Weak transcription	HepG2	liver
22	chr12:45758200-45764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:45758200-45771000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:45758400-45763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:45758400-45763800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:45758800-45763000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:45758800-45763600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:45759000-45763800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:45759000-45763800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:45759000-45763800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:45759000-45763800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:45759200-45764000	Weak transcription	Lung	lung
34	chr12:45759200-45773800	Weak transcription	Fetal Lung	lung
35	chr12:45759200-45774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:45759400-45763600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:45759600-45764000	Weak transcription	Aorta	Aorta
40	chr12:45759600-45772200	Weak transcription	Fetal Heart	heart
41	chr12:45759800-45764000	Weak transcription	Ovary	ovary
42	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
43	chr12:45760200-45763800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
45	chr12:45760400-45763800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:45760400-45771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:45761000-45763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:45761000-45763800	Strong transcription	Primary monocytes fromperipheralblood	blood

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