Variant report

Variant	rs17139552
Chromosome Location	chr5:115697335-115697336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:
2	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10519460	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948686	0.92[EUR][1000 genomes]
rs11949705	0.92[ASN][1000 genomes]
rs17139530	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139556	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139565	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139591	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4920914	0.92[EUR][1000 genomes]
rs4921095	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55702251	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56947773	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57067978	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57362825	0.85[EUR][1000 genomes]
rs57753916	0.83[ASN][1000 genomes]
rs59570866	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59951603	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594964	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6594965	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6878067	1.00[ASN][1000 genomes]
rs73264968	0.92[EUR][1000 genomes]
rs73266811	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73781050	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705979	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716629	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716923	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727761	1.00[ASN][1000 genomes]
rs7737229	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2753353	chr5:115696118-115699265	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:115687200-115706400	Weak transcription	Liver	Liver
6	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:115694400-115707800	Weak transcription	Spleen	Spleen
8	chr5:115695200-115697800	Enhancers	Fetal Brain Male	brain
9	chr5:115695200-115698000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr5:115695200-115700000	Weak transcription	K562	blood
11	chr5:115695600-115697600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr5:115695800-115706600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
14	chr5:115696000-115708000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:115696200-115697400	Flanking Active TSS	Fetal Brain Female	brain
16	chr5:115696400-115697800	Weak transcription	Primary B cells from cord blood	blood
17	chr5:115696400-115707600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:115696400-115708400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:115696600-115697600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:115696600-115697600	Enhancers	Lung	lung
21	chr5:115696600-115698000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:115696600-115698000	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr5:115696800-115697600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:115696800-115697600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:115696800-115697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:115696800-115697600	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr5:115696800-115697800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:115696800-115697800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr5:115696800-115697800	Active TSS	Colonic Mucosa	Colon
30	chr5:115696800-115697800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr5:115696800-115697800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr5:115696800-115697800	Enhancers	Stomach Mucosa	stomach
33	chr5:115696800-115698200	Enhancers	Fetal Heart	heart
34	chr5:115697000-115697400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:115697000-115697400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:115697000-115697400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr5:115697000-115697400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:115697000-115697400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:115697000-115697400	Active TSS	NH-A	brain
40	chr5:115697000-115697400	Flanking Bivalent TSS/Enh	NHEK	skin
41	chr5:115697000-115697600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:115697000-115697600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr5:115697000-115697600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr5:115697000-115697600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr5:115697000-115697600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr5:115697000-115697600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:115697000-115697600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:115697000-115697600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:115697000-115697600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:115697000-115697600	Active TSS	Brain Anterior Caudate	brain

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