Variant report

Variant	rs59216875
Chromosome Location	chr2:72950810-72950811
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72034767..72037407-chr2:72950731..72952275,2	MCF-7	breast:
2	chr2:72949375..72951848-chr2:72956840..72958572,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10180259	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496187	0.93[AFR][1000 genomes]
rs11126378	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11126382	0.93[AFR][1000 genomes]
rs11126386	0.93[AFR][1000 genomes]
rs11689339	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11884266	0.82[AMR][1000 genomes]
rs11886503	0.84[AFR][1000 genomes]
rs12614041	0.86[AFR][1000 genomes]
rs12615875	0.86[AFR][1000 genomes]
rs12619068	0.92[AFR][1000 genomes]
rs12619565	0.92[AFR][1000 genomes]
rs1562361	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008315	0.82[AMR][1000 genomes]
rs17008360	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008369	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008371	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876488	0.92[AFR][1000 genomes]
rs2068410	0.89[AFR][1000 genomes]
rs4597553	0.93[AFR][1000 genomes]
rs4852896	0.85[AFR][1000 genomes]
rs55642420	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55802296	0.83[AFR][1000 genomes]
rs56058174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56181835	0.84[AFR][1000 genomes]
rs57192957	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58890506	0.93[AFR][1000 genomes]
rs60284189	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60314340	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60584321	0.85[AFR][1000 genomes]
rs61619102	0.93[AFR][1000 genomes]
rs61736520	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66469454	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66509842	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794803	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713143	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716335	0.93[AFR][1000 genomes]
rs6720889	0.94[EUR][1000 genomes]
rs6736649	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6749495	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6754072	1.00[ASN][1000 genomes]
rs6761253	0.92[AFR][1000 genomes]
rs67926386	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67927720	0.90[AFR][1000 genomes]
rs72846963	0.82[EUR][1000 genomes]
rs7567893	0.83[AFR][1000 genomes]
rs7586886	0.87[AFR][1000 genomes]
rs7593084	0.93[AFR][1000 genomes]
rs7607226	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365009	chr2:72950419-72950860	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
2	chr2:72922400-72972000	Weak transcription	Right Ventricle	heart
3	chr2:72922400-72976200	Weak transcription	Psoas Muscle	Psoas
4	chr2:72922600-72951000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:72923000-72972800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:72923600-72958200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:72929000-72951200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:72937200-72974200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:72937800-72978400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:72940600-72959600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:72941400-72970000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:72943600-72978800	Weak transcription	Primary T cells from cord blood	blood
15	chr2:72945400-72968000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:72945600-72977800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:72946400-72961200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:72946400-72974600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:72946600-72969800	Weak transcription	Placenta	Placenta
20	chr2:72946600-72972800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:72946800-72951000	Weak transcription	Small Intestine	intestine
22	chr2:72946800-72951200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:72946800-72951200	Weak transcription	Ovary	ovary
24	chr2:72946800-72951200	Weak transcription	Pancreas	Pancrea
25	chr2:72946800-72956200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:72946800-72960800	Weak transcription	Lung	lung
27	chr2:72946800-72971000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:72946800-72980200	Weak transcription	Left Ventricle	heart
29	chr2:72947000-72951000	Weak transcription	Brain Anterior Caudate	brain
30	chr2:72947000-72951200	Weak transcription	Fetal Heart	heart
31	chr2:72948400-72955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:72948400-72968400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:72949400-72951000	Enhancers	NHDF-Ad	bronchial
34	chr2:72949400-72951200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr2:72949600-72951000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:72949800-72951000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:72949800-72951800	Enhancers	Fetal Intestine Small	intestine
38	chr2:72950000-72951200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:72950000-72951200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:72950000-72951400	Enhancers	Fetal Stomach	stomach
41	chr2:72950000-72951800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:72950000-72982400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:72950200-72951600	Flanking Active TSS	Liver	Liver
44	chr2:72950200-72952400	Enhancers	Fetal Intestine Large	intestine
45	chr2:72950200-72959800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:72950400-72970400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:72950400-72970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:72950400-72970800	Weak transcription	NHEK	skin
49	chr2:72950400-72972600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:72950600-72951000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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