Variant report

Variant	rs72932325
Chromosome Location	chr2:86722519-86722520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86700841..86702397-chr2:86722250..86724603,2	MCF-7	breast:
2	chr2:86716552..86718952-chr2:86720243..86722913,2	MCF-7	breast:
3	chr2:86708605..86710525-chr2:86722087..86724639,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11127039	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11687775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894098	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11897930	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55647305	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184319	0.85[EUR][1000 genomes]
rs6755535	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67847575	0.84[EUR][1000 genomes]
rs67897621	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72930333	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7559738	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598175	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600791	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:86671400-86722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:86671400-86725600	Strong transcription	A549	lung
4	chr2:86671600-86723600	Strong transcription	Fetal Thymus	thymus
5	chr2:86671600-86726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:86671800-86726600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:86672600-86724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:86674200-86726800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:86676400-86722600	Strong transcription	GM12878-XiMat	blood
10	chr2:86676600-86727200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:86681600-86722600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:86681600-86727000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr2:86682000-86726600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:86682200-86726200	Strong transcription	Fetal Lung	lung
16	chr2:86684000-86726000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:86690200-86723200	Strong transcription	Primary B cells from cord blood	blood
18	chr2:86696000-86727000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:86697200-86724600	Strong transcription	Dnd41	blood
20	chr2:86697600-86723000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:86697600-86727200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:86697800-86728800	Strong transcription	Primary T cells from cord blood	blood
23	chr2:86699400-86727000	Strong transcription	Placenta	Placenta
24	chr2:86701000-86725600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:86704600-86723000	Strong transcription	Fetal Kidney	kidney
26	chr2:86704800-86726400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:86704800-86726600	Strong transcription	NHDF-Ad	bronchial
28	chr2:86706000-86724400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:86708800-86726600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:86709200-86726600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:86709200-86737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:86709800-86725600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:86712800-86726600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:86713400-86727400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:86716200-86724600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:86716600-86725200	Weak transcription	Aorta	Aorta
37	chr2:86717000-86724400	Weak transcription	Fetal Brain Male	brain
38	chr2:86717200-86726600	Weak transcription	Pancreas	Pancrea
39	chr2:86717400-86726600	Weak transcription	Stomach Mucosa	stomach
40	chr2:86718000-86723800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:86718400-86724200	Weak transcription	Colonic Mucosa	Colon
42	chr2:86718600-86725200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:86718800-86724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:86718800-86724400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:86718800-86726600	Weak transcription	Gastric	stomach
46	chr2:86718800-86726600	Weak transcription	Right Ventricle	heart
47	chr2:86719200-86724200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:86719200-86724400	Weak transcription	Lung	lung
49	chr2:86719400-86725200	Weak transcription	NHEK	skin
50	chr2:86719400-86726000	Strong transcription	HSMM	muscle

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