Variant report

Variant	rs41339048
Chromosome Location	chr8:117747524-117747525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117745068..117749495-chr8:117750950..117754600,6	K562	blood:
2	chr8:117745368..117747957-chr8:117764763..117767614,2	MCF-7	breast:
3	chr8:117742584..117744324-chr8:117747131..117748934,2	MCF-7	breast:
4	chr8:117745587..117747791-chr8:117765896..117768158,2	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10094452	0.84[YRI][hapmap]
rs10283122	0.83[YRI][hapmap]
rs10505285	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10808485	0.89[YRI][hapmap]
rs12547063	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12548586	0.96[AFR][1000 genomes]
rs1343663	0.88[AFR][1000 genomes]
rs1436767	0.83[LWK][hapmap]
rs16888615	0.89[AMR][1000 genomes]
rs16888619	0.89[AMR][1000 genomes]
rs16888625	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes]
rs16888629	0.89[AMR][1000 genomes]
rs16888650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888683	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888705	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888709	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888721	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366	0.87[AFR][1000 genomes]
rs4130879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4372028	0.84[YRI][hapmap]
rs4449824	0.84[YRI][hapmap]
rs56998977	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73322481	0.89[AMR][1000 genomes]
rs73324025	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7843792	0.83[LWK][hapmap]
rs7844973	0.91[AFR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
2	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:117734000-117747800	Weak transcription	Lung	lung
4	chr8:117734200-117752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
7	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:117734800-117747800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:117734800-117748600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:117736600-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:117737600-117766800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:117737800-117767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:117738200-117766400	Weak transcription	Placenta	Placenta
21	chr8:117738400-117747600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:117738400-117747800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:117738400-117755400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:117738400-117764200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:117739000-117747600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:117739000-117747800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:117739000-117766000	Weak transcription	Liver	Liver
28	chr8:117739800-117747800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:117739800-117760800	Weak transcription	Dnd41	blood
30	chr8:117740000-117747800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:117741000-117766800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:117741200-117748200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:117741200-117752000	Weak transcription	NHEK	skin
34	chr8:117741200-117752400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:117741200-117764400	Weak transcription	HepG2	liver
36	chr8:117741200-117767400	Weak transcription	Aorta	Aorta
37	chr8:117741400-117747800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:117741400-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:117741400-117752200	Weak transcription	A549	lung
40	chr8:117741600-117748400	Weak transcription	HUVEC	blood vessel
41	chr8:117742800-117751200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:117742800-117752400	Weak transcription	Gastric	stomach
43	chr8:117742800-117759400	Weak transcription	Esophagus	oesophagus
44	chr8:117742800-117766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:117742800-117767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:117743000-117747600	Weak transcription	NH-A	brain
47	chr8:117743200-117752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:117744000-117766800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:117744200-117747800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:117744200-117750600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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