Variant report

Variant	rs55957712
Chromosome Location	chr2:172587956-172587957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172585756..172589058-chr2:172589522..172592081,3	MCF-7	breast:
2	chr2:172578420..172580000-chr2:172586848..172589301,2	MCF-7	breast:
3	chr2:172585739..172588158-chr2:172595691..172597501,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12053046	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12614709	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12619041	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12620126	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12622772	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12622895	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17581361	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17615262	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2176465	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3736499	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3765166	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3765167	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3770448	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3770449	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3770455	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3821093	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56275355	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57718990	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs57775770	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62181740	0.81[AMR][1000 genomes]
rs62181741	0.81[AMR][1000 genomes]
rs62181743	0.81[AMR][1000 genomes]
rs62182370	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62182372	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62182373	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62182374	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62182392	0.87[AMR][1000 genomes]
rs72881938	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72885532	0.88[AMR][1000 genomes]
rs72885545	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72889848	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7584258	0.94[AMR][1000 genomes];0.86[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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv522519	chr2:172586567-172600310	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
4	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
5	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
6	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
7	chr2:172561400-172601800	Weak transcription	Fetal Heart	heart
8	chr2:172564200-172610000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:172569800-172611400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:172571400-172597800	Strong transcription	HSMM	muscle
12	chr2:172571800-172594200	Strong transcription	HUVEC	blood vessel
13	chr2:172572000-172595400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:172575400-172595600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:172579800-172589200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:172579800-172595600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:172579800-172611200	Strong transcription	Adipose Nuclei	Adipose
18	chr2:172580000-172598000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:172580200-172588200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr2:172580200-172589600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:172580200-172590000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:172580200-172595400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:172580200-172595400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:172580200-172595600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:172580200-172596000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:172580200-172611200	Strong transcription	Placenta	Placenta
27	chr2:172580400-172589600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:172580400-172595400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:172580400-172595600	Strong transcription	Primary T cells from cord blood	blood
30	chr2:172580400-172610600	Strong transcription	Fetal Thymus	thymus
31	chr2:172580400-172611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:172580400-172611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:172580600-172595400	Strong transcription	Primary B cells from cord blood	blood
34	chr2:172580800-172595600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:172581000-172595000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:172581000-172595400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:172581200-172588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:172581200-172588000	Weak transcription	Aorta	Aorta
39	chr2:172581200-172588000	Weak transcription	Fetal Intestine Small	intestine
40	chr2:172581200-172588000	Weak transcription	Pancreas	Pancrea
41	chr2:172581200-172589800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:172581200-172592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:172581200-172601800	Weak transcription	Stomach Mucosa	stomach
44	chr2:172581400-172594200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:172581600-172589400	Strong transcription	Osteobl	bone
46	chr2:172581800-172608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:172581800-172611600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:172582200-172588400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:172582200-172590200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:172582200-172595600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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