Variant report

Variant	rs2195291
Chromosome Location	chr5:79975483-79975484
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79964150..79966462-chr5:79974912..79977180,3	MCF-7	breast:
2	chr5:79973822..79975746-chr5:79983343..79985103,2	MCF-7	breast:
3	chr5:79970108..79972408-chr5:79975282..79977185,2	MCF-7	breast:
4	chr5:79641607..79642562-chr5:79975250..79976114,3	MCF-7	breast:
5	chr5:79782620..79784555-chr5:79974141..79977090,2	MCF-7	breast:
6	chr5:79782909..79785526-chr5:79974882..79977098,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152380	Chromatin interaction
ENSG00000249042	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12652038	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1428030	0.82[CEU][hapmap]
rs1805355	0.82[CEU][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776969	0.82[CEU][hapmap]
rs3797877	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797880	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797885	0.82[CEU][hapmap]
rs3797886	0.82[CEU][hapmap]
rs4703815	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4703816	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704676	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704679	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151628	0.83[EUR][1000 genomes]
rs6151639	0.82[CEU][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151659	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151664	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151826	0.82[CEU][hapmap]
rs6864910	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719004	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836811	0.87[ASN][1000 genomes]
rs836812	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
2	chr5:79951800-79982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:79952400-79976600	Strong transcription	Fetal Thymus	thymus
4	chr5:79952400-79976800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr5:79952400-79983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:79952600-79985200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:79952600-79991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:79953200-79980800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:79956200-79979000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:79956400-80015600	Weak transcription	Psoas Muscle	Psoas
11	chr5:79958200-79998000	Weak transcription	Fetal Brain Male	brain
12	chr5:79961200-79977000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:79962800-80015600	Weak transcription	A549	lung
14	chr5:79963600-80038600	Weak transcription	Right Ventricle	heart
15	chr5:79963800-79979600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:79964000-79977800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:79964000-79984600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:79964000-79984800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:79964000-79998000	Weak transcription	Aorta	Aorta
20	chr5:79964400-79977800	Weak transcription	Esophagus	oesophagus
21	chr5:79964400-79983200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:79964400-79999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:79964600-79983000	Weak transcription	Brain Angular Gyrus	brain
24	chr5:79964800-79976800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:79964800-79998000	Weak transcription	Gastric	stomach
26	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:79965000-79977200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:79965000-80021400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:79965200-79980400	Weak transcription	Brain Germinal Matrix	brain
30	chr5:79965600-79978400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:79965800-79978400	Strong transcription	Dnd41	blood
32	chr5:79966000-79976200	Strong transcription	HSMM	muscle
33	chr5:79966000-79976600	Strong transcription	Fetal Intestine Large	intestine
34	chr5:79967000-79977000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr5:79968200-79979200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:79968400-79975800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:79968400-79976000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:79968400-79976000	Strong transcription	Osteobl	bone
39	chr5:79968400-79976600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:79968600-79976600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:79968600-79976800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr5:79969400-79975800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:79969400-79979000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:79969400-80001200	Weak transcription	NHLF	lung
45	chr5:79969600-80010600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:79969800-79997000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:79970400-79997000	Weak transcription	K562	blood
48	chr5:79970600-79976200	Strong transcription	Primary T cells from cord blood	blood
49	chr5:79971400-79975800	Strong transcription	GM12878-XiMat	blood
50	chr5:79971600-79978400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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