Variant report

Variant	rs73967731
Chromosome Location	chr2:152861383-152861384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152547960..152548861-chr2:152860870..152861751,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12475477	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4664517	0.90[AMR][1000 genomes]
rs4664519	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152858600-152868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:152860000-152861400	Enhancers	Colon Smooth Muscle	Colon
3	chr2:152860000-152861400	Enhancers	Fetal Muscle Leg	muscle
4	chr2:152860400-152861400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:152860400-152861400	Enhancers	Ovary	ovary
6	chr2:152860400-152861400	Enhancers	Pancreas	Pancrea
7	chr2:152860400-152861400	Enhancers	HSMMtube	muscle
8	chr2:152860400-152862000	Enhancers	Psoas Muscle	Psoas
9	chr2:152860600-152861400	Enhancers	Fetal Brain Male	brain
10	chr2:152860600-152861400	Flanking Active TSS	GM12878-XiMat	blood
11	chr2:152860800-152861400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:152860800-152861400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:152860800-152861400	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:152860800-152861400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:152860800-152861400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:152860800-152861400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:152860800-152861800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:152860800-152861800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:152860800-152862200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:152860800-152862600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:152861000-152861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:152861000-152861400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:152861000-152861400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:152861000-152861400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:152861000-152861400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:152861000-152861400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:152861000-152861400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:152861000-152861400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:152861000-152861400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:152861000-152861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:152861000-152861400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:152861000-152861400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:152861000-152861400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:152861000-152861400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:152861000-152861400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr2:152861000-152861400	Flanking Active TSS	Aorta	Aorta
37	chr2:152861000-152861400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr2:152861000-152861400	Active TSS	Brain Hippocampus Middle	brain
39	chr2:152861000-152861400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr2:152861000-152861400	Active TSS	Colonic Mucosa	Colon
41	chr2:152861000-152861400	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr2:152861000-152861400	Enhancers	Fetal Heart	heart
43	chr2:152861000-152861400	Enhancers	Fetal Lung	lung
44	chr2:152861000-152861400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:152861000-152861400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr2:152861000-152861400	Flanking Active TSS	K562	blood
47	chr2:152861000-152861400	Bivalent/Poised TSS	NHEK	skin
48	chr2:152861000-152861400	Active TSS	NHLF	lung
49	chr2:152861000-152861400	Active TSS	Osteobl	bone
50	chr2:152861000-152861800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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