Variant report

Variant	rs41279967
Chromosome Location	chr22:31091064-31091065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31057579..31060597-chr22:31088878..31091753,3	MCF-7	breast:
2	chr22:30820440..30822751-chr22:31090157..31092444,2	MCF-7	breast:
3	chr22:31090489..31091184-chr8:687600..688120,2	MCF-7	breast:
4	chr22:31062708..31065866-chr22:31088934..31092028,6	MCF-7	breast:
5	chr22:31062803..31066328-chr22:31088733..31092098,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237647	Chromatin interaction
ENSG00000167065	Chromatin interaction
ENSG00000104714	Chromatin interaction
ENSG00000242114	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11703133	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11703252	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13053148	0.81[AMR][1000 genomes]
rs13053186	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13053277	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13054609	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13055971	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13056033	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13057481	0.81[AMR][1000 genomes]
rs13058171	0.81[AMR][1000 genomes]
rs16988966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35317322	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57114503	0.90[AFR][1000 genomes]
rs71331258	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71331260	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71331261	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71331262	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8142472	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8142842	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3356283	chr22:31089477-31092325	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3428599	chr22:31089827-31092000	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31089400-31091600	Active TSS	Fetal Kidney	kidney
2	chr22:31089800-31091200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr22:31089800-31091200	Active TSS	Fetal Brain Female	brain
4	chr22:31089800-31091400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr22:31089800-31091600	Active TSS	Hela-S3	cervix
6	chr22:31089800-31091800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr22:31089800-31092000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr22:31090000-31091200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr22:31090000-31091200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:31090000-31091200	Active TSS	Brain Germinal Matrix	brain
11	chr22:31090000-31091200	Active TSS	Fetal Lung	lung
12	chr22:31090000-31091200	Active TSS	Pancreas	Pancrea
13	chr22:31090000-31091200	Active TSS	Right Atrium	heart
14	chr22:31090000-31091200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr22:31090000-31091400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31090000-31091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:31090000-31091400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr22:31090000-31091400	Active TSS	Brain Hippocampus Middle	brain
19	chr22:31090000-31091400	Active TSS	Brain Substantia Nigra	brain
20	chr22:31090000-31091400	Active TSS	A549	lung
21	chr22:31090000-31091400	Active TSS	HSMMtube	muscle
22	chr22:31090000-31091400	Active TSS	NHDF-Ad	bronchial
23	chr22:31090000-31091600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr22:31090000-31091600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr22:31090000-31091600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr22:31090000-31091600	Active TSS	NHLF	lung
27	chr22:31090000-31091800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr22:31090000-31091800	Active TSS	Brain Cingulate Gyrus	brain
29	chr22:31090200-31091200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:31090200-31091200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr22:31090200-31091200	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr22:31090200-31091200	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr22:31090200-31091200	Active TSS	Fetal Heart	heart
34	chr22:31090200-31091200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr22:31090200-31091200	Active TSS	Fetal Intestine Small	intestine
36	chr22:31090200-31091200	Active TSS	Left Ventricle	heart
37	chr22:31090200-31091200	Active TSS	Lung	lung
38	chr22:31090200-31091200	Active TSS	Small Intestine	intestine
39	chr22:31090200-31091200	Bivalent/Poised TSS	NHEK	skin
40	chr22:31090200-31091400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr22:31090200-31091400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:31090200-31091400	Active TSS	Gastric	stomach
43	chr22:31090200-31091600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr22:31090200-31091600	Active TSS	Brain Anterior Caudate	brain
45	chr22:31090200-31091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:31090200-31091800	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr22:31090200-31092200	Active TSS	Brain Angular Gyrus	brain
48	chr22:31090400-31091200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:31090400-31091200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr22:31090400-31091200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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