Variant report

Variant	rs72928948
Chromosome Location	chr2:86000352-86000353
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85995337..85997377-chr2:86000338..86004148,3	K562	blood:
2	chr2:85998096..86001212-chr2:86021812..86025448,3	MCF-7	breast:
3	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
4	chr2:85998588..86002655-chr2:86008368..86012059,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10205074	1.00[EUR][1000 genomes]
rs13009725	0.90[ASN][1000 genomes]
rs13429794	1.00[EUR][1000 genomes]
rs1370543	1.00[EUR][1000 genomes]
rs1370544	1.00[EUR][1000 genomes]
rs1465821	0.90[ASN][1000 genomes]
rs1518988	1.00[EUR][1000 genomes]
rs2001594	1.00[EUR][1000 genomes]
rs2049016	1.00[EUR][1000 genomes]
rs4832011	0.82[ASN][1000 genomes]
rs56790095	1.00[EUR][1000 genomes]
rs59512984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60869707	1.00[EUR][1000 genomes]
rs60990198	1.00[EUR][1000 genomes]
rs6707971	1.00[EUR][1000 genomes]
rs6727176	1.00[EUR][1000 genomes]
rs67494720	0.85[ASN][1000 genomes]
rs72928918	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928938	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930750	1.00[EUR][1000 genomes]
rs72930775	1.00[AMR][1000 genomes]
rs7605132	1.00[EUR][1000 genomes]
rs7608987	1.00[EUR][1000 genomes]
rs934776	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85994000-86000400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:85994800-86002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:85995200-86000600	Enhancers	Pancreas	Pancrea
4	chr2:85995600-86002200	Enhancers	Liver	Liver
5	chr2:85995800-86001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:85995800-86002000	Enhancers	Fetal Brain Male	brain
7	chr2:85996800-86000800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:85997600-86000600	Enhancers	Lung	lung
9	chr2:85997800-86001000	Enhancers	Stomach Mucosa	stomach
10	chr2:85998000-86002000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:85998200-86001000	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:85998600-86000400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:85998600-86001400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:85998800-86000400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr2:85998800-86000800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:85998800-86001000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:85998800-86001000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:85999000-86000600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:85999000-86000600	Flanking Active TSS	Fetal Brain Female	brain
20	chr2:85999000-86002200	Enhancers	Spleen	Spleen
21	chr2:85999000-86002400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:85999200-86001800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:85999400-86001600	Enhancers	Colonic Mucosa	Colon
24	chr2:85999400-86003600	Weak transcription	Gastric	stomach
25	chr2:85999600-86000400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr2:85999600-86000400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:85999600-86001000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:85999800-86000400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:85999800-86000400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr2:85999800-86000400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:85999800-86000400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:85999800-86000400	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr2:85999800-86000400	Flanking Active TSS	Fetal Stomach	stomach
34	chr2:85999800-86000400	Flanking Active TSS	HSMMtube	muscle
35	chr2:85999800-86000400	Flanking Active TSS	HUVEC	blood vessel
36	chr2:85999800-86000400	Flanking Active TSS	NHDF-Ad	bronchial
37	chr2:85999800-86000400	Flanking Active TSS	Osteobl	bone
38	chr2:85999800-86000600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:85999800-86000600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:85999800-86000600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr2:85999800-86000600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr2:85999800-86000600	Flanking Active TSS	NH-A	brain
43	chr2:85999800-86000800	Flanking Active TSS	Hela-S3	cervix
44	chr2:85999800-86002200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr2:86000000-86000400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:86000000-86000400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:86000000-86000400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:86000000-86000400	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
49	chr2:86000000-86000400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr2:86000000-86000400	Flanking Active TSS	Brain Hippocampus Middle	brain

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