Variant report

Variant	rs72808976
Chromosome Location	chr5:115696911-115696912
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10519452	1.00[AFR][1000 genomes]
rs17139251	1.00[AFR][1000 genomes]
rs17139604	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17139607	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56168251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56370685	0.84[AMR][1000 genomes]
rs57209700	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57526524	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58291729	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58776100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72804896	1.00[AFR][1000 genomes]
rs72804900	1.00[AFR][1000 genomes]
rs72806907	1.00[AFR][1000 genomes]
rs72806917	1.00[AFR][1000 genomes]
rs72806927	1.00[AFR][1000 genomes]
rs72806930	1.00[AFR][1000 genomes]
rs72806931	1.00[AFR][1000 genomes]
rs72806933	1.00[AFR][1000 genomes]
rs72808912	1.00[AFR][1000 genomes]
rs72808927	1.00[AFR][1000 genomes]
rs72808929	1.00[AFR][1000 genomes]
rs72808932	1.00[AFR][1000 genomes]
rs72808949	1.00[AFR][1000 genomes]
rs72808977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72808978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72808979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808981	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808984	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808985	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808987	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808989	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808992	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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:86 , 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	chr5:115686400-115697000	Weak transcription	Fetal Lung	lung
5	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:115687200-115706400	Weak transcription	Liver	Liver
7	chr5:115687800-115697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
9	chr5:115693400-115697000	Enhancers	Fetal Muscle Leg	muscle
10	chr5:115694400-115707800	Weak transcription	Spleen	Spleen
11	chr5:115695000-115697000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:115695000-115697000	Enhancers	GM12878-XiMat	blood
13	chr5:115695000-115697200	Enhancers	Psoas Muscle	Psoas
14	chr5:115695200-115697000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:115695200-115697800	Enhancers	Fetal Brain Male	brain
16	chr5:115695200-115698000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr5:115695200-115700000	Weak transcription	K562	blood
18	chr5:115695400-115697000	Weak transcription	Placenta	Placenta
19	chr5:115695600-115697000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:115695600-115697000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:115695600-115697600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:115695800-115697000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:115695800-115697000	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr5:115695800-115697200	Enhancers	Ovary	ovary
25	chr5:115695800-115706600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
27	chr5:115696000-115697000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:115696000-115697000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:115696000-115697200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:115696000-115697200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:115696000-115708000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:115696200-115697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:115696200-115697200	Weak transcription	Fetal Thymus	thymus
34	chr5:115696200-115697400	Flanking Active TSS	Fetal Brain Female	brain
35	chr5:115696400-115697000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr5:115696400-115697000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:115696400-115697000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:115696400-115697000	Enhancers	Right Atrium	heart
39	chr5:115696400-115697000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr5:115696400-115697200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:115696400-115697800	Weak transcription	Primary B cells from cord blood	blood
42	chr5:115696400-115707600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:115696400-115708400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:115696600-115697000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:115696600-115697000	Enhancers	Brain Substantia Nigra	brain
46	chr5:115696600-115697000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr5:115696600-115697000	Enhancers	Fetal Intestine Large	intestine
48	chr5:115696600-115697000	Bivalent Enhancer	NHEK	skin
49	chr5:115696600-115697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:115696600-115697200	Enhancers	Rectal Mucosa Donor 29	rectum

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