Variant report

Variant	rs2040532
Chromosome Location	chr22:31669267-31669268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31626829..31627537-chr22:31668764..31669462,2	MCF-7	breast:
2	chr22:31607755..31608518-chr22:31668897..31669510,4	MCF-7	breast:
3	chr22:31669178..31671745-chr22:31674760..31676690,3	K562	blood:
4	chr22:31669154..31671048-chr22:31673189..31676176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4820044	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753463	1.00[ASW][hapmap];0.81[CEU][hapmap]
rs9609261	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:31650200-31675600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:31650600-31676400	Weak transcription	Hela-S3	cervix
5	chr22:31651400-31670200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:31651800-31675800	Strong transcription	HMEC	breast
7	chr22:31652800-31675800	Strong transcription	NHEK	skin
8	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:31653400-31670200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr22:31653800-31670800	Strong transcription	Primary T cells from cord blood	blood
11	chr22:31653800-31676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:31654000-31676400	Strong transcription	Thymus	Thymus
13	chr22:31654000-31680400	Strong transcription	Lung	lung
14	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
15	chr22:31654200-31677200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:31655400-31680800	Weak transcription	K562	blood
20	chr22:31656600-31671000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr22:31656800-31674000	Weak transcription	Brain Angular Gyrus	brain
22	chr22:31657800-31681200	Strong transcription	Adipose Nuclei	Adipose
23	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
24	chr22:31659400-31678600	Strong transcription	Fetal Muscle Leg	muscle
25	chr22:31660600-31670800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr22:31661400-31671800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:31661400-31677800	Weak transcription	A549	lung
28	chr22:31661600-31673800	Strong transcription	Fetal Thymus	thymus
29	chr22:31661600-31674200	Strong transcription	Liver	Liver
30	chr22:31661800-31669800	Strong transcription	Brain Substantia Nigra	brain
31	chr22:31661800-31677000	Strong transcription	Spleen	Spleen
32	chr22:31661800-31677600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:31662200-31671800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr22:31663800-31673000	Genic enhancers	Placenta	Placenta
35	chr22:31664200-31670000	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:31664600-31671000	Weak transcription	Brain Germinal Matrix	brain
37	chr22:31664800-31669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:31665200-31669600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:31665400-31669600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:31665600-31671600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:31665600-31679400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:31665800-31671400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr22:31665800-31678800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr22:31666000-31669600	Strong transcription	Pancreas	Pancrea
45	chr22:31666000-31671200	Strong transcription	HSMM	muscle
46	chr22:31666000-31671800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr22:31666000-31671800	Strong transcription	Colonic Mucosa	Colon
48	chr22:31666000-31682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr22:31666000-31684200	Strong transcription	Aorta	Aorta
50	chr22:31666200-31669600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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