Variant report

Variant	rs9530444
Chromosome Location	chr13:76098030-76098031
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	chr13:76095939..76098463-chr13:76110881..76113865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1050235	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146901	0.87[AMR][1000 genomes]
rs12146907	0.87[AMR][1000 genomes]
rs12146936	0.80[AMR][1000 genomes]
rs12859594	0.80[EUR][1000 genomes]
rs12859711	0.80[EUR][1000 genomes]
rs12861744	0.80[EUR][1000 genomes]
rs12861774	0.82[EUR][1000 genomes]
rs12865529	0.89[EUR][1000 genomes]
rs12866747	0.80[EUR][1000 genomes]
rs12869081	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12871445	0.82[EUR][1000 genomes]
rs17064647	0.89[EUR][1000 genomes]
rs2031234	0.80[EUR][1000 genomes]
rs34072684	0.80[EUR][1000 genomes]
rs34241221	0.80[EUR][1000 genomes]
rs34407556	0.80[EUR][1000 genomes]
rs34572351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34949196	0.80[EUR][1000 genomes]
rs35132045	0.80[EUR][1000 genomes]
rs35132275	0.82[EUR][1000 genomes]
rs35352582	0.80[EUR][1000 genomes]
rs35556048	0.89[EUR][1000 genomes]
rs35596538	0.89[EUR][1000 genomes]
rs35631959	0.82[EUR][1000 genomes]
rs35680815	0.85[EUR][1000 genomes]
rs35853105	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35901810	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36043532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885303	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885310	0.85[EUR][1000 genomes]
rs4885311	0.82[EUR][1000 genomes]
rs4885315	0.80[EUR][1000 genomes]
rs4885327	0.80[EUR][1000 genomes]
rs6562904	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6562910	0.80[EUR][1000 genomes]
rs66528354	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66635712	0.80[EUR][1000 genomes]
rs66808557	0.85[EUR][1000 genomes]
rs67051742	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67211435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67270540	0.80[EUR][1000 genomes]
rs67532736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67656352	0.80[EUR][1000 genomes]
rs68017902	0.80[EUR][1000 genomes]
rs68044755	0.82[EUR][1000 genomes]
rs68052366	0.80[EUR][1000 genomes]
rs71215998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7321611	0.80[EUR][1000 genomes]
rs7324560	0.80[EUR][1000 genomes]
rs7325969	0.85[EUR][1000 genomes]
rs9530443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543949	0.83[AMR][1000 genomes]
rs9543950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543953	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9543961	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543962	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr13:76089000-76099400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:76089000-76104800	Weak transcription	NHDF-Ad	bronchial
3	chr13:76089200-76099400	Weak transcription	Dnd41	blood
4	chr13:76093600-76109400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:76094400-76101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:76095600-76109200	Weak transcription	Gastric	stomach
7	chr13:76095800-76111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76096000-76099200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:76096000-76099400	Weak transcription	Fetal Thymus	thymus
10	chr13:76096000-76099600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr13:76096200-76099400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:76096200-76099400	Weak transcription	Thymus	Thymus
13	chr13:76096400-76099200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr13:76096400-76099400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:76096400-76099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:76096400-76099600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:76096600-76099400	Weak transcription	Adipose Nuclei	Adipose
18	chr13:76096600-76099400	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:76096600-76099400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:76096600-76099600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:76096600-76099600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:76096600-76101800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:76096600-76107400	Weak transcription	Fetal Intestine Small	intestine
24	chr13:76096600-76110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:76096600-76111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:76096800-76104400	Weak transcription	Primary B cells from cord blood	blood
27	chr13:76097000-76099600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:76097000-76099800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:76097000-76111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:76097000-76111600	Weak transcription	Spleen	Spleen
31	chr13:76097200-76099400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:76097200-76100000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:76097400-76099200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr13:76097400-76099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:76097400-76099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:76097400-76099400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr13:76097400-76099600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:76097400-76104800	Weak transcription	GM12878-XiMat	blood
39	chr13:76097400-76106200	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:76097600-76099200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:76097600-76099400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:76097600-76099400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:76097600-76099400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:76097600-76099400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr13:76097600-76099400	Weak transcription	Fetal Intestine Large	intestine
46	chr13:76097600-76099400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:76097600-76099400	Weak transcription	Placenta	Placenta
48	chr13:76097600-76099400	Weak transcription	Lung	lung
49	chr13:76097600-76099400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:76097600-76099400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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