Variant report

Variant	rs72867223
Chromosome Location	chr2:32588990-32588991
allele	C/T
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	chr2:32387435..32390295-chr2:32587080..32590116,3	K562	blood:
4	chr2:32588487..32591521-chr2:32595095..32597931,3	K562	blood:

Variant related genes	Relation type
ENSG00000115760	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34417238	1.00[ASN][1000 genomes]
rs55665681	0.92[EUR][1000 genomes]
rs57272947	0.92[EUR][1000 genomes]
rs57785665	1.00[ASN][1000 genomes]
rs59398369	0.92[EUR][1000 genomes]
rs61376890	1.00[ASN][1000 genomes]
rs6741519	0.92[EUR][1000 genomes]
rs72865574	0.92[EUR][1000 genomes]
rs72865577	0.92[EUR][1000 genomes]
rs72867217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72867233	1.00[ASN][1000 genomes]
rs72867267	1.00[AMR][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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:32583600-32590400	Weak transcription	Left Ventricle	heart
3	chr2:32583600-32590600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:32583600-32592400	Weak transcription	Spleen	Spleen
5	chr2:32583600-32592800	Weak transcription	Lung	lung
6	chr2:32583600-32593200	Weak transcription	Pancreas	Pancrea
7	chr2:32583600-32594600	Weak transcription	Esophagus	oesophagus
8	chr2:32583600-32607200	Weak transcription	Placenta	Placenta
9	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:32583600-32653200	Weak transcription	Gastric	stomach
11	chr2:32583800-32589800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:32583800-32605600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:32584000-32593000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:32584200-32589000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:32584200-32605600	Weak transcription	Thymus	Thymus
17	chr2:32584600-32590200	Weak transcription	Brain Anterior Caudate	brain
18	chr2:32584600-32590400	Enhancers	HepG2	liver
19	chr2:32584600-32607000	Weak transcription	HMEC	breast
20	chr2:32584600-32609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:32584800-32606400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:32585000-32592800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:32585000-32607200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:32585200-32589800	Weak transcription	Osteobl	bone
25	chr2:32585200-32592400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:32585200-32600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:32585200-32607200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:32585400-32589600	Weak transcription	NHLF	lung
29	chr2:32585400-32592800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:32585400-32593000	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:32585400-32598400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:32585400-32601800	Weak transcription	Fetal Intestine Large	intestine
33	chr2:32585400-32602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:32585400-32607000	Weak transcription	Hela-S3	cervix
35	chr2:32585400-32607400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:32585400-32609000	Weak transcription	NHEK	skin
37	chr2:32585800-32589400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:32585800-32590000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:32585800-32592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:32585800-32592800	Weak transcription	Fetal Heart	heart
41	chr2:32585800-32593800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:32585800-32595200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:32585800-32601800	Weak transcription	NHDF-Ad	bronchial
44	chr2:32585800-32602600	Weak transcription	Fetal Lung	lung
45	chr2:32585800-32605800	Weak transcription	HSMM	muscle
46	chr2:32585800-32607200	Weak transcription	NH-A	brain
47	chr2:32585800-32609000	Weak transcription	Fetal Brain Female	brain
48	chr2:32586000-32598400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:32586000-32602600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:32586200-32592800	Weak transcription	Fetal Stomach	stomach

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