Variant report

Variant	rs10075784
Chromosome Location	chr5:115234579-115234580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115232531..115235335-chr5:115239466..115241502,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10039749	0.81[ASN][1000 genomes]
rs10050876	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12188972	0.83[ASN][1000 genomes]
rs12332653	0.80[ASN][1000 genomes]
rs12517882	0.88[AFR][1000 genomes]
rs12519850	0.86[ASN][1000 genomes]
rs12520442	0.86[ASN][1000 genomes]
rs12523122	0.86[ASN][1000 genomes]
rs35238578	0.82[ASN][1000 genomes]
rs3733902	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3756555	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3797564	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3797565	0.86[ASN][1000 genomes]
rs3797566	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797567	0.94[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs41332950	0.86[ASN][1000 genomes]
rs4143542	0.83[ASN][1000 genomes]
rs58463583	0.89[ASN][1000 genomes]
rs6879485	0.87[AFR][1000 genomes]
rs6880372	0.82[ASN][1000 genomes]
rs71581217	0.86[ASN][1000 genomes]
rs7707539	0.91[AFR][1000 genomes]
rs7708164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723291	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3401617	chr5:115205732-115238678	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1027418	chr5:115206256-115446861	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv515611	chr5:115208843-115428381	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1021968	chr5:115213162-115426468	Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1024008	chr5:115222974-115431050	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1027117	chr5:115222974-115442883	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv2763487	chr5:115222986-115442895	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv462400	chr5:115223504-115428381	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv599478	chr5:115223504-115428381	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1030480	chr5:115228889-115446861	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	esv3441679	chr5:115230797-115238631	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv599479	chr5:115233116-115450969	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:115193200-115239000	Weak transcription	Gastric	stomach
3	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
5	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
6	chr5:115207600-115238400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:115207600-115239200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
11	chr5:115207800-115250800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:115208200-115236000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:115208600-115235600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:115212000-115236000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:115212600-115238200	Weak transcription	Dnd41	blood
18	chr5:115218600-115253000	Weak transcription	Placenta	Placenta
19	chr5:115218800-115253600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:115219000-115252800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:115219200-115252800	Weak transcription	Pancreas	Pancrea
22	chr5:115219200-115253200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:115219400-115236200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:115219400-115246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:115219400-115251000	Weak transcription	Fetal Lung	lung
26	chr5:115219400-115252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:115219600-115256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:115221400-115253800	Weak transcription	Fetal Stomach	stomach
29	chr5:115221400-115254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:115222000-115252800	Weak transcription	Fetal Intestine Small	intestine
31	chr5:115225600-115253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:115228000-115249200	Weak transcription	HSMMtube	muscle
33	chr5:115230200-115254000	Weak transcription	Ovary	ovary
34	chr5:115230600-115250200	Weak transcription	Liver	Liver
35	chr5:115231600-115245800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:115231600-115247200	Weak transcription	NHDF-Ad	bronchial
37	chr5:115232200-115235000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:115233000-115236600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:115233200-115235000	Strong transcription	Fetal Intestine Large	intestine
40	chr5:115233600-115234600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:115233600-115234600	Enhancers	NHLF	lung
42	chr5:115233600-115234800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:115233600-115234800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:115233600-115234800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:115233600-115235000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:115233600-115235200	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:115233800-115234800	Enhancers	NHEK	skin
48	chr5:115234000-115234600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:115234000-115234600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:115234000-115234800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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