Variant report

Variant	rs12541592
Chromosome Location	chr8:117705869-117705870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117703617..117706358-chr8:117706814..117709205,3	MCF-7	breast:
2	chr8:117697505..117699043-chr8:117703582..117706384,2	K562	blood:
3	chr8:117700895..117702576-chr8:117705776..117708112,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10505283	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12541272	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12545964	0.95[ASN][1000 genomes]
rs12547063	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12548564	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12548574	0.88[AMR][1000 genomes]
rs12548586	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1343663	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888632	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16888693	0.83[ASN][1000 genomes]
rs2366	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs764938	1.00[JPT][hapmap]
rs7833306	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844973	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117668200-117707000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:117670200-117707000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:117671000-117717600	Weak transcription	HepG2	liver
5	chr8:117674800-117706800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:117682800-117707400	Weak transcription	Right Atrium	heart
7	chr8:117685400-117707200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:117690000-117707000	Weak transcription	Primary B cells from cord blood	blood
9	chr8:117695600-117707600	Weak transcription	Dnd41	blood
10	chr8:117698000-117711200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:117698200-117707400	Weak transcription	Gastric	stomach
12	chr8:117698400-117713400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:117699000-117719000	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:117699400-117707000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:117699400-117707200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:117699400-117707400	Weak transcription	Right Ventricle	heart
17	chr8:117699400-117707600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:117699400-117707600	Weak transcription	Psoas Muscle	Psoas
19	chr8:117699600-117707200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:117699800-117707000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:117699800-117708000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:117700200-117708800	Weak transcription	HSMMtube	muscle
23	chr8:117700200-117715200	Weak transcription	Fetal Intestine Small	intestine
24	chr8:117700600-117706800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:117700600-117707600	Weak transcription	Aorta	Aorta
26	chr8:117700600-117707600	Weak transcription	Hela-S3	cervix
27	chr8:117701000-117706400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:117701200-117707200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:117701400-117716200	Weak transcription	Fetal Heart	heart
30	chr8:117702000-117710200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:117702800-117706600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:117703200-117706000	Weak transcription	Spleen	Spleen
33	chr8:117703400-117706400	Weak transcription	NHDF-Ad	bronchial
34	chr8:117703400-117707600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:117703400-117721200	Weak transcription	HSMM	muscle
36	chr8:117703600-117706600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:117703600-117707000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:117703600-117707400	Weak transcription	NHEK	skin
39	chr8:117703600-117707800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:117703600-117709400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:117703600-117715400	Weak transcription	Fetal Stomach	stomach
42	chr8:117703800-117706200	Weak transcription	Osteobl	bone
43	chr8:117703800-117707600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:117703800-117707600	Weak transcription	HMEC	breast
45	chr8:117703800-117708200	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:117703800-117709400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:117703800-117709600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:117703800-117721000	Weak transcription	NH-A	brain
49	chr8:117704000-117706000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:117704000-117706000	Weak transcription	Lung	lung

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