Variant report

Variant	rs5749308
Chromosome Location	chr22:31984079-31984080
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31983609..31985774-chr22:32339217..32341040,2	MCF-7	breast:
2	chr22:31982333..31984122-chr22:32028532..32031400,2	MCF-7	breast:
3	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
4	chr22:31982271..31984848-chr22:32044660..32046890,2	MCF-7	breast:
5	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
6	chr22:31974667..31977596-chr22:31983172..31985417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128245	Chromatin interaction

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

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

rs_ID	r²[population]
rs1018489	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs130088	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs131227	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs131230	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs131236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16989378	0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2003687	1.00[AMR][1000 genomes]
rs35341171	1.00[AMR][1000 genomes]
rs5749307	0.90[AFR][1000 genomes]
rs5753618	1.00[YRI][hapmap]
rs5753697	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5753706	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5753720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5753722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994403	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61743940	1.00[AMR][1000 genomes]
rs910549	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9619199	1.00[AMR][1000 genomes]
rs9621260	1.00[AMR][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	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
2	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
6	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
8	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
10	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
12	chr22:31974600-31984200	Weak transcription	Right Ventricle	heart
13	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
15	chr22:31976200-32014800	Weak transcription	A549	lung
16	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
18	chr22:31977000-31985400	Weak transcription	Stomach Mucosa	stomach
19	chr22:31978200-31987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:31978400-31985800	Strong transcription	Thymus	Thymus
21	chr22:31978600-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:31979600-31984400	Strong transcription	Primary B cells from cord blood	blood
23	chr22:31979600-31984400	Strong transcription	GM12878-XiMat	blood
24	chr22:31979600-31984600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:31979600-31985800	Strong transcription	Dnd41	blood
26	chr22:31979600-31986200	Strong transcription	Primary T cells from cord blood	blood
27	chr22:31979600-31986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:31979600-31986400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:31979800-31984400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr22:31979800-31984600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr22:31979800-31984600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:31979800-31984600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:31979800-31984600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr22:31979800-31984800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:31979800-31985800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:31979800-31985800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:31979800-31986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:31979800-31986200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr22:31980000-31984400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr22:31980000-31984600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr22:31980000-31985800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:31980400-31984400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:31981000-31984400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr22:31981000-31984400	Strong transcription	Lung	lung
47	chr22:31981000-31985200	Strong transcription	Fetal Brain Female	brain
48	chr22:31981000-31985800	Strong transcription	Brain Germinal Matrix	brain
49	chr22:31981200-31984600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr22:31981200-31984600	Strong transcription	Fetal Muscle Leg	muscle

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