Variant report

Variant	rs12619041
Chromosome Location	chr2:172600716-172600717
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	chr2:172599628..172601946-chr2:172603604..172606469,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12053046	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12612105	0.80[CHB][hapmap]
rs12614709	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12620126	0.95[CEU][hapmap];0.83[CHB][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12622772	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12622895	0.95[CEU][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17581361	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17581439	0.81[EUR][1000 genomes]
rs17615262	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2176465	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3736499	0.95[CEU][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3765166	0.95[CEU][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3765167	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3770448	0.90[CEU][hapmap];0.83[CHB][hapmap];0.90[GIH][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3770449	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3770455	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3796000	0.86[CHB][hapmap]
rs3821093	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55957712	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56275355	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57718990	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57775770	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62182370	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62182372	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62182373	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62182374	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62182392	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72881938	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72885532	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72885545	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72889848	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7584258	0.90[AMR][1000 genomes];0.90[EUR][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	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

No data

Chromatin state (count:124 , 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	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
3	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
4	chr2:172561400-172601800	Weak transcription	Fetal Heart	heart
5	chr2:172564200-172610000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:172569800-172611400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:172579800-172611200	Strong transcription	Adipose Nuclei	Adipose
9	chr2:172580200-172611200	Strong transcription	Placenta	Placenta
10	chr2:172580400-172610600	Strong transcription	Fetal Thymus	thymus
11	chr2:172580400-172611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:172580400-172611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:172581200-172601800	Weak transcription	Stomach Mucosa	stomach
14	chr2:172581800-172608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:172581800-172611600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:172584200-172605400	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:172586800-172612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
19	chr2:172588400-172601600	Weak transcription	Dnd41	blood
20	chr2:172588400-172601800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:172588400-172617000	Weak transcription	Spleen	Spleen
22	chr2:172588400-172617400	Weak transcription	Gastric	stomach
23	chr2:172588400-172619800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172588800-172601600	Weak transcription	Right Ventricle	heart
25	chr2:172588800-172617400	Weak transcription	Pancreas	Pancrea
26	chr2:172589200-172601600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:172589200-172608400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:172589600-172617200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:172590000-172601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:172591000-172611400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:172591800-172606000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:172593000-172602800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:172593400-172605800	Strong transcription	Fetal Intestine Large	intestine
35	chr2:172594200-172601400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:172594400-172601600	Weak transcription	HSMMtube	muscle
37	chr2:172595400-172602200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:172595400-172605400	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:172595400-172619000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:172595600-172601600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:172595600-172607400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:172595600-172615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:172596400-172600800	Strong transcription	Primary T cells from cord blood	blood
44	chr2:172596400-172605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:172596400-172605800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:172596400-172606200	Strong transcription	Liver	Liver
47	chr2:172596400-172610400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:172596400-172611200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:172596400-172615200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:172596600-172606400	Strong transcription	NHEK	skin

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