Variant report

Variant	rs67405165
Chromosome Location	chr5:79550747-79550748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79533016..79538413-chr5:79547668..79554494,9	MCF-7	breast:
2	chr5:79423046..79425756-chr5:79550269..79553191,3	MCF-7	breast:
3	chr5:79508706..79511076-chr5:79549297..79550935,2	K562	blood:
4	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:
5	chr5:79535394..79538837-chr5:79548301..79551920,3	K562	blood:
6	chr5:79462247..79466170-chr5:79549724..79555274,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000039319	Chromatin interaction
ENSG00000239159	Chromatin interaction
ENSG00000164300	Chromatin interaction
ENSG00000251675	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13153456	0.84[AMR][1000 genomes]
rs13179394	0.84[AMR][1000 genomes]
rs13179638	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13181284	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13188642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13190128	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13190586	0.84[AMR][1000 genomes]
rs17201222	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17260885	0.84[AMR][1000 genomes]
rs34006305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34286825	0.89[AMR][1000 genomes]
rs34325845	0.84[AMR][1000 genomes]
rs34445888	0.84[AMR][1000 genomes]
rs34550632	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34700139	0.84[AMR][1000 genomes]
rs34844945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35155855	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35242457	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35314308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35327965	0.84[AMR][1000 genomes]
rs35375564	0.89[AMR][1000 genomes]
rs35408097	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35720953	0.84[AMR][1000 genomes]
rs35762887	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35860790	0.84[AMR][1000 genomes]
rs35916537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71636211	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71636213	0.84[AMR][1000 genomes]
rs72776301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79547800-79551000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr5:79548400-79551000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr5:79548600-79550800	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr5:79548600-79551000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:79548600-79551200	Flanking Active TSS	Liver	Liver
6	chr5:79548600-79551200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:79548800-79550800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:79548800-79551000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:79548800-79552600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:79549000-79550800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr5:79549000-79550800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:79549000-79553000	Active TSS	Rectal Smooth Muscle	rectum
13	chr5:79549200-79550800	Flanking Active TSS	NHEK	skin
14	chr5:79549200-79553400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:79549200-79553400	Active TSS	Fetal Kidney	kidney
16	chr5:79549400-79550800	Enhancers	Spleen	Spleen
17	chr5:79549400-79552400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr5:79549400-79553400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:79549600-79551000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:79549600-79551000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr5:79549600-79551000	Flanking Active TSS	Thymus	Thymus
22	chr5:79549600-79552400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr5:79549600-79553000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:79549800-79550800	Flanking Active TSS	Placenta	Placenta
25	chr5:79549800-79551000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:79549800-79551200	Flanking Active TSS	Dnd41	blood
27	chr5:79549800-79551400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr5:79549800-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:79549800-79552400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr5:79549800-79552600	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr5:79549800-79552800	Active TSS	Esophagus	oesophagus
32	chr5:79549800-79552800	Active TSS	Fetal Intestine Large	intestine
33	chr5:79549800-79553000	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr5:79549800-79554600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr5:79550000-79550800	Flanking Active TSS	Fetal Thymus	thymus
36	chr5:79550000-79550800	Flanking Active TSS	HMEC	breast
37	chr5:79550000-79551000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr5:79550000-79551000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr5:79550000-79551000	Active TSS	Brain Germinal Matrix	brain
40	chr5:79550000-79551000	Flanking Active TSS	Fetal Heart	heart
41	chr5:79550000-79551000	Flanking Active TSS	Osteobl	bone
42	chr5:79550000-79551200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr5:79550000-79551200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr5:79550000-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:79550000-79553000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:79550000-79553600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:79550000-79554200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:79550200-79550800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:79550200-79550800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr5:79550200-79550800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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