Variant report

Variant	rs1547980
Chromosome Location	chr2:54120185-54120186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54106687..54109412-chr2:54119140..54120771,2	K562	blood:
2	chr2:54119248..54120935-chr2:54124138..54125936,2	MCF-7	breast:
3	chr2:54118509..54120933-chr2:54123957..54126075,2	K562	blood:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10185375	0.85[CEU][hapmap]
rs10432674	0.87[ASN][1000 genomes]
rs12162342	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12162343	0.93[ASN][1000 genomes]
rs12613682	0.85[YRI][hapmap]
rs12614854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620383	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12621783	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623273	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12623380	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13426329	0.81[JPT][hapmap]
rs17045337	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17045370	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17045386	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17045435	0.87[CEU][hapmap];0.94[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes]
rs2068017	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs2287344	0.81[GIH][hapmap];0.85[YRI][hapmap]
rs2287345	0.85[YRI][hapmap]
rs2293361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28396307	0.92[ASN][1000 genomes]
rs3213775	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3731972	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3731973	0.95[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs3770389	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3821078	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3850347	0.82[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6713523	0.89[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs6720298	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72799239	0.88[ASN][1000 genomes]
rs72799248	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72799250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72799257	0.95[ASN][1000 genomes]
rs72799259	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72799262	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72799268	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7580916	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805371	0.88[ASN][1000 genomes]
rs9309252	0.85[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087400-54137600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
5	chr2:54088400-54137200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54088600-54138000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:54089800-54136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54090200-54137800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:54090200-54138200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:54090400-54137600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:54090800-54137400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:54091000-54137000	Strong transcription	Fetal Thymus	thymus
13	chr2:54091000-54137800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:54091000-54138000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:54091200-54138000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:54091400-54137600	Strong transcription	Liver	Liver
17	chr2:54093800-54124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:54094000-54137800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:54099200-54137400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:54100400-54137800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:54100400-54137800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:54100400-54140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:54100600-54123000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:54100600-54137400	Strong transcription	Placenta	Placenta
25	chr2:54100600-54137800	Strong transcription	Primary B cells from cord blood	blood
26	chr2:54100600-54141200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:54100800-54138000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:54102000-54124400	Weak transcription	Small Intestine	intestine
29	chr2:54103800-54129200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:54104600-54135600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:54105800-54120400	Strong transcription	Fetal Intestine Large	intestine
32	chr2:54105800-54137200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:54106000-54120400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:54106000-54138000	Strong transcription	Dnd41	blood
35	chr2:54106200-54138400	Strong transcription	Adipose Nuclei	Adipose
36	chr2:54106600-54137800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:54107000-54123800	Strong transcription	HMEC	breast
38	chr2:54107200-54123000	Strong transcription	K562	blood
39	chr2:54107200-54123200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:54107200-54124200	Strong transcription	HepG2	liver
41	chr2:54108200-54120400	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:54108200-54137400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:54108400-54135600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:54108400-54137400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:54108600-54135800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:54108600-54137800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:54108800-54124000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:54108800-54137400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:54109000-54120200	Strong transcription	Left Ventricle	heart

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