Variant report

Variant	rs16969405
Chromosome Location	chr15:78305054-78305055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78302062..78306347-chr15:78307060..78310472,4	K562	blood:
2	chr15:78291987..78294202-chr15:78303152..78305403,2	MCF-7	breast:
3	chr15:78303690..78306677-chr15:78365888..78368992,3	MCF-7	breast:
4	chr15:78301316..78302886-chr15:78304631..78306880,2	K562	blood:
5	chr15:78304614..78306614-chr15:78307790..78309750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10519182	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11629761	0.86[YRI][hapmap]
rs11639164	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11854491	0.87[AMR][1000 genomes]
rs12102130	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329101	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969367	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16969407	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969414	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969423	1.00[YRI][hapmap]
rs16969424	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969430	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969447	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs1985487	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28394000	0.86[AFR][1000 genomes]
rs28417785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28441175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28470811	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28491609	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28491820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28519575	0.86[AFR][1000 genomes]
rs28526757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579273	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28581571	0.99[AFR][1000 genomes]
rs28590577	0.81[AFR][1000 genomes]
rs28591625	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647720	0.99[AFR][1000 genomes]
rs28674965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4991997	0.88[EUR][1000 genomes]
rs55663439	0.88[EUR][1000 genomes]
rs55930913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58098690	0.88[EUR][1000 genomes]
rs58117418	0.88[EUR][1000 genomes]
rs58247186	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7167778	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74029743	0.88[EUR][1000 genomes]
rs74029754	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7495639	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920647	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78284600-78310200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr15:78285800-78309600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:78286000-78310400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:78287000-78316000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:78288400-78311000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr15:78288600-78309600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr15:78288600-78309600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr15:78288600-78309600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:78288600-78309600	Strong transcription	Thymus	Thymus
10	chr15:78288800-78309600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:78288800-78310400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr15:78289000-78309800	Strong transcription	Primary T cells from cord blood	blood
13	chr15:78289400-78309800	Strong transcription	Dnd41	blood
14	chr15:78293200-78309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:78293600-78310000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr15:78293800-78309600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:78295600-78305600	Enhancers	Pancreas	Pancrea
18	chr15:78296200-78316400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:78296400-78307800	Weak transcription	Hela-S3	cervix
21	chr15:78296600-78307800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:78297400-78310800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:78297600-78310400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:78297800-78305600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:78298400-78309600	Genic enhancers	Liver	Liver
26	chr15:78298600-78305200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:78298600-78309400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:78300200-78309000	Strong transcription	Aorta	Aorta
29	chr15:78300400-78305800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:78300600-78316400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:78300800-78305200	Strong transcription	Spleen	Spleen
32	chr15:78300800-78309600	Strong transcription	Fetal Stomach	stomach
33	chr15:78300800-78315400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:78301000-78310200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:78301000-78311400	Weak transcription	Right Atrium	heart
36	chr15:78301000-78316400	Weak transcription	Psoas Muscle	Psoas
37	chr15:78301200-78308800	Weak transcription	Fetal Heart	heart
38	chr15:78301200-78308800	Strong transcription	Fetal Thymus	thymus
39	chr15:78301200-78308800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr15:78301200-78309600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:78301200-78309800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:78301200-78315800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:78301400-78306600	Weak transcription	HSMM	muscle
44	chr15:78301400-78342200	Weak transcription	HMEC	breast
45	chr15:78301600-78305800	Weak transcription	Brain Germinal Matrix	brain
46	chr15:78301800-78313800	Strong transcription	Fetal Muscle Leg	muscle
47	chr15:78302200-78315400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr15:78302400-78307000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:78302400-78309200	Strong transcription	Colon Smooth Muscle	Colon
50	chr15:78302400-78309800	Strong transcription	HSMMtube	muscle

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