Variant report

Variant	rs72862203
Chromosome Location	chr2:32231599-32231600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32229628..32232090-chr2:32233807..32237023,6	MCF-7	breast:
2	chr2:32226815..32228929-chr2:32230111..32231633,2	K562	blood:
3	chr2:32231133..32238127-chr2:32263164..32266706,7	MCF-7	breast:
4	chr2:32217161..32219927-chr2:32227791..32231712,3	K562	blood:
5	chr2:32158032..32160777-chr2:32231295..32234289,2	K562	blood:
6	chr2:32231239..32234526-chr2:32234585..32239142,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57078509	1.00[AFR][1000 genomes]
rs57644886	1.00[AFR][1000 genomes]
rs60605926	1.00[AFR][1000 genomes]
rs61352460	1.00[AFR][1000 genomes]
rs72857259	1.00[AFR][1000 genomes]
rs72857291	1.00[AFR][1000 genomes]
rs72857301	1.00[AFR][1000 genomes]
rs72859018	1.00[AFR][1000 genomes]
rs72859037	1.00[AFR][1000 genomes]
rs72859053	1.00[AFR][1000 genomes]
rs72859066	1.00[AFR][1000 genomes]
rs72859071	1.00[AFR][1000 genomes]
rs72859081	1.00[AFR][1000 genomes]
rs72860909	1.00[AFR][1000 genomes]
rs72860952	1.00[AFR][1000 genomes]
rs72860968	1.00[AFR][1000 genomes]
rs72860974	1.00[AFR][1000 genomes]
rs72860985	1.00[AFR][1000 genomes]
rs72860994	1.00[AFR][1000 genomes]
rs72862262	1.00[AFR][1000 genomes]
rs72862276	1.00[AFR][1000 genomes]
rs72862283	1.00[AFR][1000 genomes]
rs72862284	1.00[AFR][1000 genomes]
rs72863928	1.00[AFR][1000 genomes]
rs72863970	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
2	chr2:32191600-32234200	Weak transcription	Lung	lung
3	chr2:32202400-32233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:32206400-32232200	Weak transcription	Fetal Lung	lung
5	chr2:32206400-32233200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
7	chr2:32211000-32232800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:32213200-32232200	Weak transcription	NHDF-Ad	bronchial
9	chr2:32216600-32233200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:32218800-32233200	Weak transcription	Small Intestine	intestine
11	chr2:32222800-32233200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:32223000-32232400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:32223000-32233200	Weak transcription	Fetal Heart	heart
14	chr2:32223000-32233200	Weak transcription	NH-A	brain
15	chr2:32223200-32232200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:32223200-32233000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:32223200-32233400	Weak transcription	HSMM	muscle
18	chr2:32223200-32233600	Weak transcription	Osteobl	bone
19	chr2:32223400-32232400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:32223400-32232600	Weak transcription	HUVEC	blood vessel
21	chr2:32223400-32233000	Weak transcription	Brain Germinal Matrix	brain
22	chr2:32223400-32234400	Weak transcription	Spleen	Spleen
23	chr2:32224200-32233600	Weak transcription	Thymus	Thymus
24	chr2:32224600-32232200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:32224800-32233200	Weak transcription	Fetal Thymus	thymus
26	chr2:32224800-32233200	Weak transcription	Left Ventricle	heart
27	chr2:32225000-32232000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:32225800-32234200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:32226000-32232600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:32227200-32233200	Weak transcription	Placenta	Placenta
31	chr2:32227600-32232000	Enhancers	Liver	Liver
32	chr2:32227800-32233600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:32228000-32232200	Weak transcription	Hela-S3	cervix
34	chr2:32228800-32232800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:32228800-32233600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:32229000-32233200	Enhancers	NHEK	skin
37	chr2:32229200-32234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:32229200-32234200	Weak transcription	Esophagus	oesophagus
39	chr2:32229400-32232200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:32229400-32232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:32229400-32233200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:32229400-32233200	Enhancers	Dnd41	blood
43	chr2:32229400-32233600	Enhancers	Primary T cells from cord blood	blood
44	chr2:32229600-32232200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:32229600-32233000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:32230000-32233200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr2:32230000-32233800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:32230000-32233800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:32230200-32231800	Enhancers	Ovary	ovary
50	chr2:32230200-32233400	Enhancers	Primary neutrophils fromperipheralblood	blood

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