Variant report

Variant	rs9643559
Chromosome Location	chr8:64101353-64101354
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	chr8:64098280..64100879-chr8:64101116..64103004,2	MCF-7	breast:
2	chr8:64078480..64080986-chr8:64100261..64102698,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185728	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10957275	0.82[EUR][1000 genomes]
rs12542182	0.82[EUR][1000 genomes]
rs12542741	0.80[EUR][1000 genomes]
rs12547669	0.80[EUR][1000 genomes]
rs12549833	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550222	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550793	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12677153	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12678231	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241753	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34803356	0.80[EUR][1000 genomes]
rs3857972	0.82[EUR][1000 genomes]
rs3929126	0.82[EUR][1000 genomes]
rs4601308	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4737633	0.87[EUR][1000 genomes]
rs4739053	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4739066	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4739068	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61223024	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983011	0.82[EUR][1000 genomes]
rs7000495	0.82[EUR][1000 genomes]
rs7000788	0.82[EUR][1000 genomes]
rs7000927	0.82[EUR][1000 genomes]
rs7001014	0.82[EUR][1000 genomes]
rs7011111	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73254967	0.82[EUR][1000 genomes]
rs73254968	0.82[EUR][1000 genomes]
rs73684686	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73684689	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73686707	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73686709	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643383	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9643384	0.82[EUR][1000 genomes]
rs9643556	0.82[EUR][1000 genomes]
rs9643557	0.82[EUR][1000 genomes]
rs9643558	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64084200-64102200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:64090000-64108200	Weak transcription	Fetal Heart	heart
3	chr8:64093400-64101800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:64093400-64102000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:64093400-64102200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr8:64093400-64103000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:64093400-64103800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:64093600-64101800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:64093600-64101800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:64093600-64102200	Strong transcription	Liver	Liver
11	chr8:64093800-64103600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:64094000-64101400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:64095400-64103200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:64095800-64101800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:64096200-64102400	Strong transcription	K562	blood
16	chr8:64097000-64102200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr8:64097000-64108200	Weak transcription	Right Atrium	heart
18	chr8:64097400-64101600	Strong transcription	Fetal Stomach	stomach
19	chr8:64097400-64102400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:64098200-64103600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:64098400-64102800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:64098600-64101600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:64098600-64101600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:64098600-64101600	Strong transcription	Colonic Mucosa	Colon
25	chr8:64098600-64101600	Strong transcription	Fetal Intestine Small	intestine
26	chr8:64098600-64101600	Strong transcription	Left Ventricle	heart
27	chr8:64098600-64101600	Strong transcription	Ovary	ovary
28	chr8:64098600-64102000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:64098600-64102000	Strong transcription	Fetal Muscle Leg	muscle
30	chr8:64098600-64102200	Strong transcription	Osteobl	bone
31	chr8:64098600-64102400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:64098600-64102400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:64098600-64103000	Strong transcription	Fetal Thymus	thymus
34	chr8:64098800-64101600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:64098800-64102000	Strong transcription	Fetal Lung	lung
36	chr8:64098800-64102200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:64098800-64102400	Strong transcription	NH-A	brain
38	chr8:64098800-64102800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:64098800-64103200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:64099000-64101400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr8:64099000-64101600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:64099000-64102200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:64099200-64101600	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr8:64099200-64103800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:64099200-64105800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:64099600-64101400	Weak transcription	Small Intestine	intestine
47	chr8:64099600-64102800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:64099600-64103200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:64099800-64101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:64099800-64102000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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