Variant report

Variant	rs72867217
Chromosome Location	chr2:32586641-32586642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32581269..32585086-chr2:32586252..32591815,14	MCF-7	breast:
2	chr2:32585364..32588460-chr2:32588611..32590703,3	MCF-7	breast:
3	chr2:32584914..32587228-chr2:32703630..32705353,2	K562	blood:

Variant related genes	Relation type
ENSG00000115760	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs61754198	0.90[EUR][1000 genomes]
rs61754203	0.90[EUR][1000 genomes]
rs72855961	0.90[EUR][1000 genomes]
rs72855966	0.90[EUR][1000 genomes]
rs72855982	0.90[EUR][1000 genomes]
rs72867223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72867267	1.00[AMR][1000 genomes]
rs72867278	0.90[EUR][1000 genomes]
rs72867287	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32586800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:32583600-32586800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:32583600-32587600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:32583600-32588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:32583600-32588800	Weak transcription	Ovary	ovary
6	chr2:32583600-32589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32583600-32590400	Weak transcription	Left Ventricle	heart
8	chr2:32583600-32590600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:32583600-32592400	Weak transcription	Spleen	Spleen
10	chr2:32583600-32592800	Weak transcription	Lung	lung
11	chr2:32583600-32593200	Weak transcription	Pancreas	Pancrea
12	chr2:32583600-32594600	Weak transcription	Esophagus	oesophagus
13	chr2:32583600-32607200	Weak transcription	Placenta	Placenta
14	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:32583600-32653200	Weak transcription	Gastric	stomach
16	chr2:32583800-32589800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:32583800-32605600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:32584000-32586800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:32584000-32587000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:32584000-32588000	Weak transcription	Fetal Brain Male	brain
22	chr2:32584000-32593000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:32584200-32589000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:32584200-32605600	Weak transcription	Thymus	Thymus
25	chr2:32584600-32587200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:32584600-32587200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:32584600-32587600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:32584600-32587800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:32584600-32588000	Weak transcription	Psoas Muscle	Psoas
30	chr2:32584600-32588600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:32584600-32588800	Weak transcription	HUVEC	blood vessel
32	chr2:32584600-32590200	Weak transcription	Brain Anterior Caudate	brain
33	chr2:32584600-32590400	Enhancers	HepG2	liver
34	chr2:32584600-32607000	Weak transcription	HMEC	breast
35	chr2:32584600-32609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:32584800-32606400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:32585000-32586800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:32585000-32587000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:32585000-32587600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:32585000-32592800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:32585000-32607200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:32585200-32586800	Weak transcription	Fetal Kidney	kidney
43	chr2:32585200-32587200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:32585200-32588800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:32585200-32589800	Weak transcription	Osteobl	bone
46	chr2:32585200-32592400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:32585200-32600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:32585200-32607200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:32585400-32588000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:32585400-32589600	Weak transcription	NHLF	lung

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